Variant report

Variant	esv3445834
Chromosome Location	chr8:103874576-103877824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:103876308-103876847	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:103875145-103875514	K562	blood:	n/a	n/a
3	ARID3A	chr8:103874943-103875227	HepG2	liver:	n/a	n/a
4	ATF1	chr8:103875068-103875483	K562	blood:	n/a	n/a
5	ATF1	chr8:103876226-103876662	K562	blood:	n/a	n/a
6	ATF2	chr8:103874865-103875574	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr8:103875972-103876991	GM12878	blood:	n/a	n/a
8	ATF2	chr8:103874859-103875685	GM12878	blood:	n/a	n/a
9	ATF2	chr8:103876094-103876800	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr8:103875978-103876730	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr8:103874486-103875814	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr8:103876687-103877188	GM12878	blood:	n/a	n/a
13	ATF2	chr8:103876039-103876599	GM12878	blood:	n/a	n/a
14	ATF2	chr8:103874882-103875613	GM12878	blood:	n/a	n/a
15	ATF3	chr8:103875038-103875607	K562	blood:	n/a	chr8:103875449-103875458
16	ATF3	chr8:103875065-103875360	K562	blood:	n/a	n/a
17	ATF3	chr8:103876273-103876739	A549	lung:	n/a	chr8:103876439-103876454 chr8:103876431-103876451
18	BACH1	chr8:103876493-103876989	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr8:103875065-103875548	GM12878	blood:	n/a	n/a
20	BCL3	chr8:103874692-103875686	A549	lung:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574 chr8:103875639-103875652
21	BCL3	chr8:103874697-103875732	A549	lung:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574 chr8:103875639-103875652
22	BCL3	chr8:103876107-103876703	A549	lung:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
23	BCL3	chr8:103875185-103875653	GM12878	blood:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574 chr8:103875639-103875652
24	BCL3	chr8:103876164-103876895	GM12878	blood:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876865-103876878 chr8:103876709-103876718 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
25	BCL3	chr8:103876003-103877047	A549	lung:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876865-103876878 chr8:103876709-103876718 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
26	BCLAF1	chr8:103876183-103877198	K562	blood:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876865-103876878 chr8:103876709-103876718 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
27	BCLAF1	chr8:103874879-103875711	GM12878	blood:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574 chr8:103875639-103875652
28	BCLAF1	chr8:103874844-103875649	K562	blood:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574
29	BCLAF1	chr8:103876102-103877163	GM12878	blood:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876865-103876878 chr8:103876709-103876718 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
30	BCLAF1	chr8:103875060-103875662	GM12878	blood:	n/a	chr8:103875593-103875602 chr8:103875392-103875405 chr8:103875386-103875395 chr8:103875562-103875575 chr8:103875319-103875328 chr8:103875561-103875574 chr8:103875639-103875652
31	BCLAF1	chr8:103875978-103877233	GM12878	blood:	n/a	chr8:103876644-103876657 chr8:103876206-103876215 chr8:103876865-103876878 chr8:103876709-103876718 chr8:103876457-103876470 chr8:103876205-103876218 chr8:103876458-103876471
32	BHLHE40	chr8:103875990-103877012	HepG2	liver:	n/a	chr8:103876177-103876193 chr8:103876029-103876038 chr8:103876028-103876041
33	BHLHE40	chr8:103875916-103876883	GM12878	blood:	n/a	chr8:103876177-103876193 chr8:103876029-103876038 chr8:103876028-103876041 chr8:103875916-103875932
34	BHLHE40	chr8:103875103-103875599	K562	blood:	n/a	n/a
35	BHLHE40	chr8:103875888-103877139	K562	blood:	n/a	chr8:103876177-103876193 chr8:103876029-103876038 chr8:103876028-103876041 chr8:103875916-103875932
36	BHLHE40	chr8:103875171-103875688	GM12878	blood:	n/a	chr8:103875639-103875655
37	BRCA1	chr8:103874984-103875554	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr8:103876212-103876368	GM12878	blood:	n/a	n/a
39	BRCA1	chr8:103875260-103875477	HepG2	liver:	n/a	n/a
40	BRCA1	chr8:103876169-103876625	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr8:103876116-103876227	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr8:103876573-103876889	H1-hESC	embryonic stem cell:	n/a	n/a
43	BRCA1	chr8:103876154-103877071	HepG2	liver:	n/a	n/a
44	CBX3	chr8:103874701-103875612	K562	blood:	n/a	n/a
45	CBX3	chr8:103876814-103877182	K562	blood:	n/a	n/a
46	CBX3	chr8:103876136-103877207	K562	blood:	n/a	n/a
47	CCNT2	chr8:103874630-103877044	K562	blood:	n/a	chr8:103875687-103875696 chr8:103876551-103876560 chr8:103875626-103875635
48	CEBPB	chr8:103876089-103876628	GM12878	blood:	n/a	n/a
49	CEBPB	chr8:103875193-103875344	HepG2	liver:	n/a	n/a
50	CEBPB	chr8:103876344-103876623	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103876601-103876651	HCPEpiC	choroid plexus:	n/a
2	chr8:103876601-103876651	HCPEpiC	choroid plexus:	n/a
3	chr8:103877365-103877415	SK-N-SH_RA	brain:	n/a
4	chr8:103876471-103876521	GM19239	blood:	n/a
5	chr8:103877365-103877415	AoSMC	blood vessel:	n/a
6	chr8:103876573-103876623	HRCEpiC	kidney:	n/a
7	chr8:103876467-103876517	HCPEpiC	choroid plexus:	n/a
8	chr8:103877083-103877133	HPAEpiC	pulmonary alveolar:	n/a
9	chr8:103875237-103875287	IMR90	lung:	fetal
10	chr8:103876573-103876623	LNCaP	prostate:	n/a
11	chr8:103876467-103876517	BJ	skin:	n/a
12	chr8:103876573-103876623	SK-N-MC	brain:	n/a
13	chr8:103876467-103876517	AG09319	gingival:	n/a
14	chr8:103876402-103876452	HEK293	kidney:	embryo
15	chr8:103875621-103875671	GM19239	blood:	n/a
16	chr8:103876469-103876519	Jurkat	blood:	n/a
17	chr8:103877083-103877133	PrEC	prostate:	n/a
18	chr8:103876467-103876517	HCM	heart:	n/a
19	chr8:103876411-103876461	PANC-1	pancreas:	n/a
20	chr8:103876402-103876452	HEEpiC	esophagus:	n/a
21	chr8:103876573-103876623	HRE	kidney:	n/a
22	chr8:103876411-103876461	HEK293	kidney:	embryo
23	chr8:103877365-103877415	T-47D	breast:	n/a
24	chr8:103876821-103876871	MCF-7	breast:	n/a
25	chr8:103876601-103876651	LNCaP	prostate:	n/a
26	chr8:103875515-103875565	ovcar-3	ovarian:	n/a
27	chr8:103876471-103876521	PrEC	prostate:	n/a
28	chr8:103876411-103876461	GM12878	blood:	n/a
29	chr8:103875515-103875565	HCT-116	colon:	n/a
30	chr8:103876821-103876871	ProgFib	skin:	n/a
31	chr8:103876467-103876517	GM12891	blood:	n/a
32	chr8:103877011-103877061	SAEC	small airway:	n/a
33	chr8:103877083-103877133	SK-N-SH	brain:	n/a
34	chr8:103876467-103876517	HNPCEpiC	eye:	n/a
35	chr8:103875237-103875287	AoSMC	blood vessel:	n/a
36	chr8:103876402-103876452	SAEC	small airway:	n/a
37	chr8:103876467-103876517	HEEpiC	esophagus:	n/a
38	chr8:103876601-103876651	Hepatocyte	liver:	n/a
39	chr8:103877365-103877415	AG04449	skin:	fetal
40	chr8:103877083-103877133	GM06990	blood:	n/a
41	chr8:103876469-103876519	HEEpiC	esophagus:	n/a
42	chr8:103875237-103875287	U87	brain:	n/a
43	chr8:103875237-103875287	NHDF-neo	bronchial:	n/a
44	chr8:103875621-103875671	PANC-1	pancreas:	n/a
45	chr8:103876402-103876452	CMK	blood:	n/a
46	chr8:103876467-103876517	GM12892	blood:	n/a
47	chr8:103876469-103876519	HRE	kidney:	n/a
48	chr8:103876601-103876651	A549	lung:	n/a
49	chr8:103876467-103876517	HUVEC	blood vessel:	n/a
50	chr8:103876402-103876452	NT2-D1	testis:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103875054..103878103-chr8:104425943..104429059,5	K562	blood:
2	chr8:103422495..103425381-chr8:103875147..103876814,2	MCF-7	breast:
3	chr8:103251204..103252824-chr8:103875184..103876837,2	MCF-7	breast:
4	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
5	chr8:103873381..103878542-chr8:103897806..103904719,11	MCF-7	breast:
6	chr12:57913034..57914671-chr8:103876019..103877740,2	MCF-7	breast:
7	chr8:103876345..103878103-chr8:104425943..104427544,2	K562	blood:
8	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
9	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
10	chr8:103875189..103878093-chr8:103942369..103944654,3	K562	blood:
11	chr8:103875189..103877224-chr8:103941864..103944592,2	K562	blood:
12	chr16:57653384..57655758-chr8:103875542..103877439,2	MCF-7	breast:
13	chr14:90862881..90863826-chr8:103876231..103877101,2	Hela-S3	cervix:
14	chr8:103838838..103843529-chr8:103874630..103876913,6	K562	blood:
15	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
16	chr8:103874946..103878144-chr8:103904857..103910279,6	MCF-7	breast:
17	chr12:51664068..51664576-chr8:103876150..103876665,2	Hela-S3	cervix:
18	chr7:100470857..100473840-chr8:103875332..103878147,2	K562	blood:
19	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
20	chr8:103845834..103848261-chr8:103873749..103875544,2	MCF-7	breast:
21	chr6:37664126..37664626-chr8:103877139..103878079,2	HCT-116	colon:
22	chr8:103249660..103252444-chr8:103873911..103876787,3	K562	blood:
23	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
24	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
25	chr1:10457879..10460190-chr8:103875742..103877594,2	MCF-7	breast:
26	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
27	chr8:103666126..103668691-chr8:103874120..103876148,4	MCF-7	breast:
28	chr8:103874799..103876980-chr8:104425955..104427549,2	MCF-7	breast:
29	chr8:103816389..103823057-chr8:103875264..103878654,9	K562	blood:
30	chr8:103877044..103878892-chr8:103894201..103897134,2	K562	blood:
31	chr8:103875472..103877017-chr8:103905100..103906657,2	MCF-7	breast:
32	chr11:62607811..62608803-chr8:103876455..103877307,3	Hela-S3	cervix:
33	chr8:103839572..103843466-chr8:103874674..103877109,4	K562	blood:
34	chr2:220363149..220364104-chr8:103876041..103876800,2	NB4	blood:
35	chr8:103873731..103878652-chr8:103915000..103924941,17	MCF-7	breast:
36	chr8:103845726..103848177-chr8:103872999..103876884,3	K562	blood:
37	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
38	chr7:45150811..45151313-chr8:103876046..103876653,2	Hela-S3	cervix:
39	chr8:103817439..103824960-chr8:103872390..103877790,15	MCF-7	breast:
40	chr8:103874632..103878836-chr8:104074842..104078968,5	MCF-7	breast:
41	chr8:103613879..103615577-chr8:103873601..103875436,2	MCF-7	breast:
42	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
43	chr8:103845693..103863418-chr8:103873617..103879329,26	MCF-7	breast:
44	chr8:103817889..103824823-chr8:103872385..103879164,18	MCF-7	breast:
45	chr3:150263749..150264305-chr8:103876303..103876889,2	Hela-S3	cervix:
46	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
47	chr8:103874072..103879942-chr8:103913926..103921009,16	MCF-7	breast:
48	chr8:103864345..103865888-chr8:103874121..103876056,2	MCF-7	breast:
49	chr8:102216466..102219803-chr8:103875379..103878352,3	K562	blood:
50	chr8:103875337..103875971-chr8:104032293..104033157,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KB-1507C5.2.1-4	chr8:103876399-103876851	NONHSAT128118
2	lnc-KB-1507C5.2.1-4	chr8:103876669-103876851	NONHSAT128120
3	lnc-KB-1507C5.2.1-4	chr8:103876646-103876851	NONHSAT128119
4	lnc-KB-1507C5.2.1-4	chr8:103877139-103877222	NONHSAT128120
5	lnc-KB-1507C5.2.1-4	chr8:103876686-103876851	NONHSAT128121
6	lnc-KB-1507C5.2.1-4	chr8:103877331-103877536	NONHSAT128120
7	lnc-KB-1507C5.2.1-4	chr8:103876712-103876851	NONHSAT128122

Variant related genes	Relation type
AZIN1	TF binding region
ENSG00000253320	TF binding region
AZIN1	CpG island
ENSG00000253320	CpG island
ENSG00000248473	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000144591	chromatin interactions
ENSG00000164934	chromatin interactions
ENSG00000205336	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000265898	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000155097	chromatin interactions
ENSG00000254236	chromatin interactions
ENSG00000208028	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000142657	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000244052	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000112139	chromatin interactions
ENSG00000253263	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000170545	chromatin interactions
ENSG00000250222	chromatin interactions
ENSG00000136270	chromatin interactions
ENSG00000198668	chromatin interactions
ENSG00000164933	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000175197	chromatin interactions

Extended variants
information (count: 131 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182808021	chr8:103874597-103874598	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs140961133	chr8:103874611-103874612	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs386728364	chr8:103874622-103874623	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs114213688	chr8:103874623-103874624	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs188275976	chr8:103874624-103874625	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs892486	chr8:103874629-103874630	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs556364891	chr8:103874642-103874643	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs150216759	chr8:103874675-103874676	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs564437077	chr8:103874683-103874684	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs112575891	chr8:103874724-103874725	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs79434749	chr8:103874814-103874815	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs374050153	chr8:103874840-103874841	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs558016666	chr8:103874851-103874852	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs571194865	chr8:103874906-103874907	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs3808542	chr8:103874924-103874925	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572603848	chr8:103874927-103874928	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs539837277	chr8:103874935-103874936	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs73699322	chr8:103875019-103875020	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553762494	chr8:103875043-103875044	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs114232418	chr8:103875052-103875053	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs573798056	chr8:103875055-103875056	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs543932191	chr8:103875057-103875058	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs28625448	chr8:103875086-103875087	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138896757	chr8:103875116-103875117	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs3808541	chr8:103875130-103875131	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs140983865	chr8:103875133-103875134	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs527555739	chr8:103875134-103875135	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs183575340	chr8:103875146-103875147	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs144744950	chr8:103875154-103875155	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs138686372	chr8:103875163-103875164	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs549456555	chr8:103875193-103875194	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs567774547	chr8:103875196-103875197	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs536048835	chr8:103875244-103875245	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs547642739	chr8:103875321-103875322	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs556510577	chr8:103875341-103875342	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs566398197	chr8:103875346-103875347	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs539723271	chr8:103875384-103875385	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs558231528	chr8:103875438-103875439	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs117767593	chr8:103875499-103875500	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs371276689	chr8:103875543-103875544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs555902191	chr8:103875570-103875571	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs574025009	chr8:103875591-103875592	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs542021201	chr8:103875601-103875602	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs2436851	chr8:103875613-103875614	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568065195	chr8:103875614-103875615	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs572330534	chr8:103875622-103875623	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs545773898	chr8:103875714-103875715	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs76052743	chr8:103875725-103875726	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs531215735	chr8:103875790-103875791	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs371296627	chr8:103875855-103875856	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Prostate cancer	22341455	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103862400-103874800	Weak transcription	Aorta	Aorta
2	chr8:103862400-103874800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:103865800-103874600	Weak transcription	Colonic Mucosa	Colon
4	chr8:103866800-103874800	Weak transcription	Lung	lung
5	chr8:103870400-103874600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:103871000-103874600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr8:103871400-103874600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr8:103871600-103874600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr8:103871600-103874800	Weak transcription	Stomach Mucosa	stomach
10	chr8:103872000-103874800	Weak transcription	Gastric	stomach
11	chr8:103872200-103874600	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:103872200-103874800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:103872200-103874800	Weak transcription	Esophagus	oesophagus
14	chr8:103872200-103874800	Weak transcription	Ovary	ovary
15	chr8:103872200-103874800	Active TSS	Right Atrium	heart
16	chr8:103872400-103874600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:103872400-103877200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr8:103872800-103874600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:103872800-103874800	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:103872800-103878000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr8:103873000-103876800	Active TSS	Placenta	Placenta
22	chr8:103873000-103877600	Active TSS	GM12878-XiMat	blood
23	chr8:103873000-103877800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:103873200-103874600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:103873200-103877400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:103873200-103877400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:103873200-103877400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr8:103873400-103874600	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:103873400-103874600	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:103873400-103874800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:103873400-103874800	Enhancers	Left Ventricle	heart
32	chr8:103873400-103874800	Enhancers	Small Intestine	intestine
33	chr8:103873400-103877200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:103873400-103877200	Active TSS	Pancreas	Pancrea
35	chr8:103873400-103877400	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr8:103873400-103877400	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr8:103873400-103877600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:103873600-103874800	Active TSS	NHLF	lung
39	chr8:103873600-103875000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr8:103873600-103876200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:103873600-103877800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:103873800-103874600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:103873800-103875200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
44	chr8:103873800-103875400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:103873800-103877000	Active TSS	HMEC	breast
46	chr8:103873800-103877400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:103873800-103877600	Active TSS	HSMM	muscle
48	chr8:103873800-103877800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:103874000-103874600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:103874000-103874800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links