Variant report

Variant	nsv891205
Chromosome Location	chr8:96062601-96115476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1982)
CpG islands
(count:611)
Chromatin interactive
region (count:173)
LncRNA
region (count:17)
Mature miRNA
region (count: 4)
miRNA target
sites (count:0)

(count:1982 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:96112153-96114204	HepG2	liver:	n/a	chr8:96113369-96113385
2	ARID3A	chr8:96102402-96103236	K562	blood:	n/a	n/a
3	ARID3A	chr8:96081323-96081519	K562	blood:	n/a	n/a
4	ARID3A	chr8:96114805-96115209	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:96069167-96069511	K562	blood:	n/a	n/a
6	ARID3A	chr8:96113340-96114142	K562	blood:	n/a	chr8:96113369-96113385
7	ARID3A	chr8:96105371-96106093	K562	blood:	n/a	n/a
8	ARID3A	chr8:96079866-96080277	K562	blood:	n/a	n/a
9	ARID3A	chr8:96069228-96069447	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:96103446-96103806	K562	blood:	n/a	n/a
11	ARID3A	chr8:96079673-96080081	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:96081252-96081574	HepG2	liver:	n/a	n/a
13	ARID3A	chr8:96086881-96088345	HepG2	liver:	n/a	n/a
14	ATF1	chr8:96102445-96102938	K562	blood:	n/a	n/a
15	ATF1	chr8:96113296-96114174	K562	blood:	n/a	n/a
16	ATF1	chr8:96105295-96105794	K562	blood:	n/a	n/a
17	ATF2	chr8:96103241-96103917	GM12878	blood:	n/a	n/a
18	ATF2	chr8:96101850-96102848	GM12878	blood:	n/a	n/a
19	ATF2	chr8:96090295-96090613	GM12878	blood:	n/a	n/a
20	ATF2	chr8:96105026-96105333	GM12878	blood:	n/a	n/a
21	ATF2	chr8:96103243-96104895	GM12878	blood:	n/a	n/a
22	ATF2	chr8:96105345-96105761	GM12878	blood:	n/a	n/a
23	ATF2	chr8:96086342-96087063	GM12878	blood:	n/a	n/a
24	ATF2	chr8:96103963-96104614	GM12878	blood:	n/a	n/a
25	ATF2	chr8:96112509-96113511	GM12878	blood:	n/a	n/a
26	ATF2	chr8:96112677-96113259	GM12878	blood:	n/a	n/a
27	ATF2	chr8:96085182-96086003	GM12878	blood:	n/a	n/a
28	ATF2	chr8:96101699-96102919	GM12878	blood:	n/a	n/a
29	ATF2	chr8:96090166-96090783	GM12878	blood:	n/a	n/a
30	ATF2	chr8:96104900-96105824	GM12878	blood:	n/a	n/a
31	ATF3	chr8:96105367-96105699	K562	blood:	n/a	n/a
32	ATF3	chr8:96102499-96102916	K562	blood:	n/a	n/a
33	BACH1	chr8:96069344-96069396	K562	blood:	n/a	n/a
34	BACH1	chr8:96102586-96102974	K562	blood:	n/a	n/a
35	BATF	chr8:96104125-96104551	GM12878	blood:	n/a	chr8:96104325-96104336
36	BATF	chr8:96090359-96090560	GM12878	blood:	n/a	n/a
37	BATF	chr8:96104119-96104514	GM12878	blood:	n/a	chr8:96104325-96104336
38	BATF	chr8:96101845-96102327	GM12878	blood:	n/a	n/a
39	BATF	chr8:96105246-96105654	GM12878	blood:	n/a	n/a
40	BATF	chr8:96105090-96105776	GM12878	blood:	n/a	n/a
41	BATF	chr8:96103463-96103814	GM12878	blood:	n/a	n/a
42	BATF	chr8:96112690-96113455	GM12878	blood:	n/a	n/a
43	BATF	chr8:96112771-96113116	GM12878	blood:	n/a	n/a
44	BCL11A	chr8:96103451-96103786	GM12878	blood:	n/a	n/a
45	BCL11A	chr8:96104098-96104547	GM12878	blood:	n/a	n/a
46	BCL11A	chr8:96090285-96090636	GM12878	blood:	n/a	n/a
47	BCL11A	chr8:96104195-96104442	GM12878	blood:	n/a	n/a
48	BCL3	chr8:96085477-96085869	GM12878	blood:	n/a	chr8:96085645-96085658
49	BCL3	chr8:96104052-96104553	GM12878	blood:	n/a	n/a
50	BCL3	chr8:96103342-96103890	GM12878	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96112814-96112864	SK-N-SH_RA	brain:	n/a
2	chr8:96112814-96112864	SK-N-SH_RA	brain:	n/a
3	chr8:96085994-96086044	PrEC	prostate:	n/a
4	chr8:96085689-96085739	PFSK-1	brain:	n/a
5	chr8:96085994-96086044	SK-N-SH	brain:	n/a
6	chr8:96085689-96085739	HCF	heart:	n/a
7	chr8:96085994-96086044	AG04450	lung:	fetal
8	chr8:96086565-96086615	T-47D	breast:	n/a
9	chr8:96085385-96085435	NB4	blood:	n/a
10	chr8:96085689-96085739	MCF-7	breast:	n/a
11	chr8:96085385-96085435	SK-N-MC	brain:	n/a
12	chr8:96085994-96086044	SK-N-MC	brain:	n/a
13	chr8:96070313-96070363	PrEC	prostate:	n/a
14	chr8:96084821-96084871	K562	blood:	n/a
15	chr8:96085385-96085435	AG04449	skin:	fetal
16	chr8:96112814-96112864	HCPEpiC	choroid plexus:	n/a
17	chr8:96084821-96084871	Jurkat	blood:	n/a
18	chr8:96070313-96070363	CMK	blood:	n/a
19	chr8:96085994-96086044	MCF-7	breast:	n/a
20	chr8:96085270-96085320	GM12891	blood:	n/a
21	chr8:96086565-96086615	HUVEC	blood vessel:	n/a
22	chr8:96070313-96070363	HEK293	kidney:	embryo
23	chr8:96070313-96070363	LNCaP	prostate:	n/a
24	chr8:96089695-96089745	HPAEpiC	pulmonary alveolar:	n/a
25	chr8:96085689-96085739	HNPCEpiC	eye:	n/a
26	chr8:96085994-96086044	AG09319	gingival:	n/a
27	chr8:96085385-96085435	HEK293	kidney:	embryo
28	chr8:96085994-96086044	NHBE	bronchial:	n/a
29	chr8:96085448-96085498	HepG2	liver:	n/a
30	chr8:96070313-96070363	GM12878	blood:	n/a
31	chr8:96089695-96089745	CMK	blood:	n/a
32	chr8:96085385-96085435	NHBE	bronchial:	n/a
33	chr8:96085448-96085498	AG09319	gingival:	n/a
34	chr8:96084821-96084871	Hepatocyte	liver:	n/a
35	chr8:96085270-96085320	HNPCEpiC	eye:	n/a
36	chr8:96085270-96085320	HCPEpiC	choroid plexus:	n/a
37	chr8:96089695-96089745	SK-N-SH_RA	brain:	n/a
38	chr8:96085385-96085435	HEEpiC	esophagus:	n/a
39	chr8:96085385-96085435	HCPEpiC	choroid plexus:	n/a
40	chr8:96086565-96086615	K562	blood:	n/a
41	chr8:96085270-96085320	RPTEC	kidney:	n/a
42	chr8:96112814-96112864	NT2-D1	testis:	n/a
43	chr8:96086565-96086615	HCF	heart:	n/a
44	chr8:96070313-96070363	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:96086565-96086615	NHBE	bronchial:	n/a
46	chr8:96085994-96086044	AG10803	skin:	n/a
47	chr8:96086565-96086615	AG10803	skin:	n/a
48	chr8:96085270-96085320	NHDF-neo	bronchial:	n/a
49	chr8:96085270-96085320	SKMC	muscle:	n/a
50	chr8:96085270-96085320	A549	lung:	n/a

(count:173 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr8:96035298..96037639-chr8:96096701..96099172,2	MCF-7	breast:
2	chr8:95962267..95964815-chr8:96087157..96088833,2	MCF-7	breast:
3	chr8:96073662..96075442-chr8:96100722..96102763,2	K562	blood:
4	chr8:96092840..96095684-chr8:96102296..96104588,4	K562	blood:
5	chr8:96079089..96080992-chr8:96128939..96131322,2	MCF-7	breast:
6	chr8:96097174..96099699-chr8:96151326..96153504,2	MCF-7	breast:
7	chr20:46129164..46131854-chr8:96077259..96079857,2	MCF-7	breast:
8	chr8:95958396..95961086-chr8:96079770..96081416,2	MCF-7	breast:
9	chr8:96073817..96076023-chr8:96107819..96110019,2	MCF-7	breast:
10	chr8:96077355..96081323-chr8:96161993..96165637,3	MCF-7	breast:
11	chr8:96087016..96088619-chr8:96092629..96094625,2	K562	blood:
12	chr8:96068165..96069769-chr8:96128418..96130836,2	K562	blood:
13	chr8:96106016..96107546-chr8:96145116..96146956,2	K562	blood:
14	chr8:96073668..96076397-chr8:96204920..96206874,2	MCF-7	breast:
15	chr1:149858166..149859995-chr8:96096320..96099010,2	MCF-7	breast:
16	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
17	chr8:95958215..95960553-chr8:96082467..96084119,2	MCF-7	breast:
18	chr8:96113683..96115248-chr8:96145285..96147511,2	K562	blood:
19	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
20	chr8:96049863..96052563-chr8:96097765..96099435,2	MCF-7	breast:
21	chr8:96064035..96066670-chr8:96066870..96069382,2	MCF-7	breast:
22	chr8:95908133..95910346-chr8:96060102..96062695,2	MCF-7	breast:
23	chr8:96059402..96061636-chr8:96070767..96073160,2	MCF-7	breast:
24	chr8:96076398..96079120-chr8:96079944..96081555,2	K562	blood:
25	chr8:96036860..96039472-chr8:96108627..96112245,4	MCF-7	breast:
26	chr8:96102212..96104143-chr8:96108955..96110574,2	K562	blood:
27	chr8:96093323..96095396-chr8:96123393..96125579,2	MCF-7	breast:
28	chr8:95907523..95909755-chr8:96112942..96116370,3	MCF-7	breast:
29	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
30	chr8:96037342..96039267-chr8:96086128..96088306,2	MCF-7	breast:
31	chr8:96079008..96081719-chr8:96123344..96126236,2	K562	blood:
32	chr8:96073662..96075442-chr8:96100722..96102763,2	K562	blood:
33	chr8:96063931..96065992-chr8:96169093..96171727,2	K562	blood:
34	chr8:96071292..96073984-chr8:96078454..96081250,3	K562	blood:
35	chr8:96036624..96038754-chr8:96097409..96099751,2	MCF-7	breast:
36	chr8:96085236..96087766-chr9:140513238..140514849,2	MCF-7	breast:
37	chr8:95961629..95965113-chr8:96078252..96080869,3	MCF-7	breast:
38	chr17:56735002..56737611-chr8:96106065..96108769,2	MCF-7	breast:
39	chr8:96070557..96072277-chr8:96168044..96170372,2	MCF-7	breast:
40	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
41	chr8:96100209..96105308-chr8:96143573..96151809,12	K562	blood:
42	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
43	chr8:96088443..96090157-chr8:96145920..96147559,2	MCF-7	breast:
44	chr8:96086865..96087716-chr8:96235978..96236892,2	MCF-7	breast:
45	chr8:96107931..96110001-chr8:96127728..96130296,2	MCF-7	breast:
46	chr8:96068974..96069736-chr8:96172085..96172944,4	MCF-7	breast:
47	chr8:95906003..95908804-chr8:96112986..96114846,2	MCF-7	breast:
48	chr8:96096089..96098113-chr8:96363999..96366342,2	MCF-7	breast:
49	chr8:96056185..96059291-chr8:96067561..96070788,3	MCF-7	breast:
50	chr8:95651261..95654150-chr8:96088265..96089954,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-1	chr8:96084945-96085148	ENSG00000245080
2	lnc-C8orf38-1	chr8:96087861-96087980	NONHSAT127816
3	lnc-TP53INP1-1	chr8:96079036-96081463	ENSG00000245080
4	lnc-TP53INP1-2	chr8:96099874-96100152	ENSG00000254248.1
5	lnc-C8orf38-1	chr8:96115204-96115239	NONHSAT127816
6	lnc-C8orf38-1	chr8:96112622-96112756	NONHSAT127824
7	lnc-PLEKHF2-3	chr8:96088313-96089041	NONHSAT127823
8	lnc-TP53INP1-2	chr8:96097791-96097894	ENSG00000254248.1
9	lnc-PLEKHF2-3	chr8:96093160-96093807	NONHSAT127823
10	lnc-C8orf38-1	chr8:96113360-96113454	NONHSAT127824
11	lnc-PLEKHF2-3	chr8:96095231-96095554	NONHSAT127823
12	lnc-TP53INP1-1	chr8:96085157-96085410	ENSG00000245080
13	lnc-C8orf38-1	chr8:96115204-96115685	NONHSAT127824
14	lnc-TP53INP1-1	chr8:96081152-96081463	ENSG00000245080
15	lnc-C8orf38-1	chr8:96113360-96113454	NONHSAT127816
16	lnc-TP53INP1-2	chr8:96083960-96084246	ENSG00000254248.1
17	lnc-TP53INP1-2	chr8:96090749-96090872	ENSG00000254248.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3150a-3p	chr8:96085190-96085211	MIMAT0015023
hsa-miR-3150b-5p	chr8:96085189-96085210	MIMAT0019226
hsa-miR-3150a-5p	chr8:96085153-96085174	MIMAT0019206
hsa-miR-3150b-3p	chr8:96085152-96085172	MIMAT0018194

No data

Variant related genes	Relation type
NDUFAF6	TF binding region
MIR3150A	TF binding region
RNU6-1209P	TF binding region
ENSG00000254248	TF binding region
NDUFAF6	CpG island
MIR3150A	CpG island
RNU6-1209P	CpG island
ENSG00000254248	CpG island
ENSG00000261437	chromatin interactions
ENSG00000253878	chromatin interactions
ENSG00000200525	chromatin interactions
ENSG00000175895	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000245080	chromatin interactions
ENSG00000253773	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000181090	chromatin interactions
ENSG00000156172	chromatin interactions
ENSG00000104413	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000254248	chromatin interactions
ENSG00000203993	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000164941	chromatin interactions
ENSG00000164938	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000175305	chromatin interactions
MTAP	miRNA target sites
STAG2	miRNA target sites
HSPBAP1	miRNA target sites
NAA20	miRNA target sites

Extended variants
information (count: 2015 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2678822	chr8:96062601-96062602	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531373311	chr8:96062612-96062613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs575072953	chr8:96062622-96062623	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531419717	chr8:96062649-96062650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs189157094	chr8:96062653-96062654	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556291711	chr8:96062695-96062696	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs576041471	chr8:96062724-96062725	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs544688899	chr8:96062765-96062766	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs35939470	chr8:96062784-96062785	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs564864484	chr8:96062815-96062816	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557172430	chr8:96062833-96062834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs57925408	chr8:96062930-96062931	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs193042661	chr8:96062954-96062955	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs11993424	chr8:96062999-96063000	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs560783025	chr8:96063031-96063032	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs529828944	chr8:96063036-96063037	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549906878	chr8:96063055-96063056	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs563442974	chr8:96063099-96063100	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs532596204	chr8:96063290-96063291	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs552312482	chr8:96063291-96063292	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs566045702	chr8:96063379-96063380	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs74443130	chr8:96063412-96063413	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548892670	chr8:96063423-96063424	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571107505	chr8:96063425-96063426	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs568717946	chr8:96063485-96063486	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs529868945	chr8:96063488-96063489	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548007779	chr8:96063516-96063517	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs114121618	chr8:96063532-96063533	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs557550521	chr8:96063565-96063566	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs148681959	chr8:96063613-96063614	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs538698164	chr8:96063620-96063621	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs558295899	chr8:96063657-96063658	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs369542246	chr8:96063676-96063677	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs571992681	chr8:96063680-96063681	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs182930694	chr8:96063707-96063708	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs2678821	chr8:96063730-96063731	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553607845	chr8:96063783-96063784	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs577175872	chr8:96063818-96063819	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs142291982	chr8:96063828-96063829	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs563461660	chr8:96063842-96063843	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532528973	chr8:96063853-96063854	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs546265054	chr8:96063863-96063864	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs546167300	chr8:96063866-96063867	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559531664	chr8:96063876-96063877	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs567325102	chr8:96063925-96063926	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs570389513	chr8:96063960-96063961	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs76847527	chr8:96063988-96063989	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111260311	chr8:96064000-96064001	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs28645447	chr8:96064036-96064037	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs531197758	chr8:96064077-96064078	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:1588 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96037800-96070200	Weak transcription	Aorta	Aorta
2	chr8:96038000-96063800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:96038200-96072400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:96038200-96080000	Weak transcription	Colonic Mucosa	Colon
5	chr8:96038400-96063600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:96038400-96066800	Weak transcription	Stomach Mucosa	stomach
7	chr8:96038400-96085200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:96042800-96072200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:96043600-96063600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:96044200-96071800	Strong transcription	Dnd41	blood
11	chr8:96044400-96063200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr8:96044400-96066600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:96044400-96066800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:96044600-96065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr8:96044800-96066600	Strong transcription	Fetal Thymus	thymus
16	chr8:96045000-96068800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:96045800-96064000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr8:96046400-96070200	Weak transcription	Gastric	stomach
19	chr8:96048400-96071800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:96050000-96063800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:96052000-96063800	Strong transcription	A549	lung
22	chr8:96052000-96064600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:96052000-96065000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:96052000-96065400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr8:96052200-96065800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:96052200-96070200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:96052400-96068200	Strong transcription	Liver	Liver
28	chr8:96052800-96063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:96052800-96065800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:96053000-96063600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:96053200-96063600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:96053400-96063400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:96053600-96063400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:96054000-96065800	Strong transcription	Duodenum Mucosa	Duodenum
35	chr8:96055200-96064600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:96055200-96064800	Strong transcription	K562	blood
37	chr8:96055400-96063400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:96055400-96063600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:96055400-96066600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:96055600-96063000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:96055600-96063800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:96056200-96068600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:96056400-96064200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:96057000-96063400	Strong transcription	HMEC	breast
45	chr8:96057000-96064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:96057000-96065600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:96057400-96064400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:96057600-96063200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:96057600-96063800	Strong transcription	Placenta	Placenta
50	chr8:96058000-96063400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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