Variant report

Variant	esv3387271
Chromosome Location	chr8:103818001-103820749
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	chr8:103818567-103818689	K562	blood:	n/a	n/a
2	ARID3A	chr8:103818449-103819366	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:103820530-103820996	K562	blood:	n/a	n/a
4	ARID3A	chr8:103819716-103821032	HepG2	liver:	n/a	n/a
5	ATF1	chr8:103820694-103821041	K562	blood:	n/a	n/a
6	ATF1	chr8:103818972-103819249	K562	blood:	n/a	n/a
7	ATF2	chr8:103818073-103819044	GM12878	blood:	n/a	n/a
8	ATF2	chr8:103818426-103818958	GM12878	blood:	n/a	n/a
9	ATF2	chr8:103819609-103819979	GM12878	blood:	n/a	n/a
10	ATF2	chr8:103819577-103820100	GM12878	blood:	n/a	n/a
11	ATF3	chr8:103820199-103821177	A549	lung:	n/a	n/a
12	ATF3	chr8:103818802-103819403	K562	blood:	n/a	chr8:103818873-103818886
13	ATF3	chr8:103818437-103819123	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818873-103818886 chr8:103818636-103818644
14	ATF3	chr8:103820394-103821213	A549	lung:	n/a	n/a
15	ATF3	chr8:103818179-103820135	A549	lung:	n/a	chr8:103818773-103818782 chr8:103818873-103818886 chr8:103818636-103818644
16	ATF3	chr8:103819523-103820165	A549	lung:	n/a	n/a
17	ATF3	chr8:103818661-103819349	K562	blood:	n/a	chr8:103818773-103818782 chr8:103818873-103818886
18	BACH1	chr8:103820721-103820857	K562	blood:	n/a	n/a
19	BACH1	chr8:103818354-103818532	K562	blood:	n/a	n/a
20	BACH1	chr8:103819080-103819280	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr8:103819484-103820046	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr8:103818760-103819299	K562	blood:	n/a	n/a
23	BATF	chr8:103818500-103819008	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:103818704-103818952	GM12878	blood:	n/a	chr8:103818751-103818764 chr8:103818818-103818831
25	BCL11A	chr8:103818429-103818969	GM12878	blood:	n/a	chr8:103818751-103818764 chr8:103818818-103818831 chr8:103818632-103818641 chr8:103818655-103818668
26	BCL3	chr8:103818269-103821245	A549	lung:	n/a	chr8:103818969-103818982 chr8:103818751-103818764 chr8:103818818-103818831 chr8:103819911-103819919 chr8:103818632-103818641 chr8:103818655-103818668
27	BCL3	chr8:103818390-103819339	GM12878	blood:	n/a	chr8:103818969-103818982 chr8:103818751-103818764 chr8:103818818-103818831 chr8:103818632-103818641 chr8:103818655-103818668
28	BCL3	chr8:103818222-103821784	A549	lung:	n/a	chr8:103818969-103818982 chr8:103818751-103818764 chr8:103818818-103818831 chr8:103819911-103819919 chr8:103818632-103818641 chr8:103818655-103818668
29	BCLAF1	chr8:103820626-103821214	GM12878	blood:	n/a	n/a
30	BCLAF1	chr8:103818147-103818840	GM12878	blood:	n/a	chr8:103818751-103818764 chr8:103818818-103818831 chr8:103818632-103818641 chr8:103818655-103818668
31	BCLAF1	chr8:103819562-103820111	GM12878	blood:	n/a	chr8:103819911-103819919
32	BCLAF1	chr8:103818276-103819076	GM12878	blood:	n/a	chr8:103818969-103818982 chr8:103818751-103818764 chr8:103818818-103818831 chr8:103818632-103818641 chr8:103818655-103818668
33	BCLAF1	chr8:103819439-103820050	GM12878	blood:	n/a	chr8:103819911-103819919
34	BHLHE40	chr8:103818438-103818837	HepG2	liver:	n/a	chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818775-103818791
35	BHLHE40	chr8:103818327-103821104	HepG2	liver:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
36	BHLHE40	chr8:103818300-103820277	K562	blood:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
37	BHLHE40	chr8:103819589-103820050	HepG2	liver:	n/a	chr8:103819811-103819820
38	BHLHE40	chr8:103818441-103818770	HepG2	liver:	n/a	chr8:103818754-103818770
39	BHLHE40	chr8:103820564-103821036	GM12878	blood:	n/a	n/a
40	BHLHE40	chr8:103819633-103820033	HepG2	liver:	n/a	chr8:103819811-103819820
41	BHLHE40	chr8:103818292-103820163	GM12878	blood:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
42	BHLHE40	chr8:103820489-103821091	K562	blood:	n/a	n/a
43	BHLHE40	chr8:103818342-103820133	A549	lung:	n/a	chr8:103819811-103819820 chr8:103818810-103818826 chr8:103818754-103818770 chr8:103818997-103819013 chr8:103818998-103819014 chr8:103818775-103818791
44	BRCA1	chr8:103818465-103818587	HepG2	liver:	n/a	n/a
45	BRCA1	chr8:103818928-103819047	HepG2	liver:	n/a	n/a
46	BRCA1	chr8:103819729-103820042	H1-hESC	embryonic stem cell:	n/a	n/a
47	BRCA1	chr8:103820255-103820326	HepG2	liver:	n/a	n/a
48	BRCA1	chr8:103819480-103819979	HepG2	liver:	n/a	n/a
49	BRCA1	chr8:103819668-103819963	GM12878	blood:	n/a	n/a
50	BRCA1	chr8:103819062-103821236	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103819572-103819622	HL-60	blood:	n/a
2	chr8:103818636-103818686	NHDF-neo	bronchial:	n/a
3	chr8:103819572-103819622	HL-60	blood:	n/a
4	chr8:103818636-103818686	NHDF-neo	bronchial:	n/a
5	chr8:103819487-103819537	Hepatocyte	liver:	n/a
6	chr8:103818062-103818112	HRE	kidney:	n/a
7	chr8:103819487-103819537	HCF	heart:	n/a
8	chr8:103819572-103819622	PANC-1	pancreas:	n/a
9	chr8:103819487-103819537	BE2_C	brain:	n/a
10	chr8:103818861-103818911	SK-N-SH	brain:	n/a
11	chr8:103818062-103818112	BE2_C	brain:	n/a
12	chr8:103818636-103818686	Hela-S3	cervix:	n/a
13	chr8:103818636-103818686	HRCEpiC	kidney:	n/a
14	chr8:103818636-103818686	HCPEpiC	choroid plexus:	n/a
15	chr8:103819203-103819253	HCF	heart:	n/a
16	chr8:103819572-103819622	HIPEpiC	eye:	n/a
17	chr8:103818861-103818911	MCF-7	breast:	n/a
18	chr8:103819203-103819253	GM19239	blood:	n/a
19	chr8:103820614-103820664	HMEC	breast:	n/a
20	chr8:103819572-103819622	IMR90	lung:	fetal
21	chr8:103818919-103818969	GM12891	blood:	n/a
22	chr8:103819572-103819622	MCF-7	breast:	n/a
23	chr8:103818919-103818969	NHDF-neo	bronchial:	n/a
24	chr8:103819203-103819253	AG04450	lung:	fetal
25	chr8:103818636-103818686	AG09309	skin:	n/a
26	chr8:103818919-103818969	HPAEpiC	pulmonary alveolar:	n/a
27	chr8:103818062-103818112	MCF10A-Er-Src	breast:	n/a
28	chr8:103820614-103820664	HIPEpiC	eye:	n/a
29	chr8:103818919-103818969	SK-N-SH_RA	brain:	n/a
30	chr8:103820614-103820664	Hepatocyte	liver:	n/a
31	chr8:103818919-103818969	HUVEC	blood vessel:	n/a
32	chr8:103819572-103819622	SK-N-SH_RA	brain:	n/a
33	chr8:103819487-103819537	K562	blood:	n/a
34	chr8:103818919-103818969	HAEpiC	amniotic membrane:	n/a
35	chr8:103818062-103818112	AoSMC	blood vessel:	n/a
36	chr8:103818062-103818112	HCT-116	colon:	n/a
37	chr8:103819572-103819622	AG09309	skin:	n/a
38	chr8:103819203-103819253	NHBE	bronchial:	n/a
39	chr8:103819572-103819622	LNCaP	prostate:	n/a
40	chr8:103819487-103819537	SK-N-MC	brain:	n/a
41	chr8:103819487-103819537	NHDF-neo	bronchial:	n/a
42	chr8:103819487-103819537	Caco-2	colon:	n/a
43	chr8:103819572-103819622	HUVEC	blood vessel:	n/a
44	chr8:103818861-103818911	PrEC	prostate:	n/a
45	chr8:103819203-103819253	SK-N-SH_RA	brain:	n/a
46	chr8:103818861-103818911	MCF10A-Er-Src	breast:	n/a
47	chr8:103819572-103819622	SAEC	small airway:	n/a
48	chr8:103819203-103819253	HPAEpiC	pulmonary alveolar:	n/a
49	chr8:103820614-103820664	HEEpiC	esophagus:	n/a
50	chr8:103818919-103818969	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
2	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
3	chr22:26878870..26880742-chr8:103818199..103820468,2	MCF-7	breast:
4	chr8:103728869..103730949-chr8:103820340..103823063,2	MCF-7	breast:
5	chr1:113247405..113248288-chr8:103819589..103820438,2	Hela-S3	cervix:
6	chr8:103699541..103701462-chr8:103819381..103821442,2	MCF-7	breast:
7	chr8:103740987..103747065-chr8:103820578..103824576,6	K562	blood:
8	chr8:103306340..103308594-chr8:103820369..103822986,2	MCF-7	breast:
9	chr15:75746623..75747199-chr8:103819168..103820055,2	Hela-S3	cervix:
10	chr20:37074912..37075730-chr8:103819429..103819957,2	Hela-S3	cervix:
11	chr11:62607921..62609557-chr8:103817365..103819306,2	MCF-7	breast:
12	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
13	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
14	chr8:103696488..103698955-chr8:103820136..103822762,2	MCF-7	breast:
15	chr8:103446967..103449088-chr8:103820705..103822908,2	MCF-7	breast:
16	chr8:103667505..103668484-chr8:103818650..103819608,4	MCF-7	breast:
17	chr8:103250357..103253420-chr8:103818570..103821747,5	MCF-7	breast:
18	chr8:103665763..103666536-chr8:103820129..103820844,3	MCF-7	breast:
19	chr8:103819513..103821263-chr8:103841167..103843159,2	K562	blood:
20	chr8:103267417..103268998-chr8:103817417..103819784,2	MCF-7	breast:
21	chr8:103817310..103819555-chr8:144690473..144693447,2	MCF-7	breast:
22	chr8:103800931..103801833-chr8:103819953..103821402,6	MCF-7	breast:
23	chr8:103251230..103254364-chr8:103817398..103821115,5	K562	blood:
24	chr3:49058624..49059288-chr8:103818461..103819229,2	Hela-S3	cervix:
25	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
26	chr8:103600160..103603020-chr8:103819170..103821439,2	K562	blood:
27	chr8:103788996..103790949-chr8:103819445..103820984,2	MCF-7	breast:
28	chr12:65218457..65219292-chr8:103819159..103819916,2	MCF-7	breast:
29	chr17:39680970..39683210-chr8:103819163..103820752,2	MCF-7	breast:
30	chr8:103666410..103667102-chr8:103817768..103818726,2	Hela-S3	cervix:
31	chr8:103801046..103802242-chr8:103819152..103820867,8	MCF-7	breast:
32	chr8:103612922..103613818-chr8:103820286..103821055,2	MCF-7	breast:
33	chr8:103801123..103801836-chr8:103820284..103821038,3	MCF-7	breast:
34	chr19:8385776..8387962-chr8:103817947..103819696,2	MCF-7	breast:
35	chr8:103665037..103666754-chr8:103819414..103820860,9	MCF-7	breast:
36	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
37	chr8:103818013..103820619-chr8:103873753..103877719,3	K562	blood:
38	chr8:103665907..103666652-chr8:103819723..103820565,2	MCF-7	breast:
39	chr8:103441212..103444184-chr8:103820683..103822944,2	MCF-7	breast:
40	chr17:57182576..57184136-chr8:103818187..103820992,2	MCF-7	breast:
41	chr8:103819401..103822063-chr8:103831348..103833645,2	MCF-7	breast:
42	chr8:101732486..101734553-chr8:103818799..103820944,2	K562	blood:
43	chr8:103592013..103594944-chr8:103820236..103822716,2	MCF-7	breast:
44	chr8:103713648..103714314-chr8:103819880..103820381,2	MCF-7	breast:
45	chr8:103816803..103818468-chr8:103818908..103820464,2	K562	blood:
46	chr8:103713778..103716086-chr8:103819862..103822357,3	MCF-7	breast:
47	chr8:103692803..103694427-chr8:103820243..103822323,2	MCF-7	breast:
48	chr8:103669664..103670176-chr8:103818037..103818965,2	MCF-7	breast:
49	chr8:103818007..103820586-chr9:131474498..131476310,2	MCF-7	breast:
50	chr8:103701066..103702596-chr8:103819068..103820617,2	K562	blood:

Variant related genes	Relation type
ENSG00000253669	TF binding region
ENSG00000253669	CpG island
ENSG00000254024	chromatin interactions
ENSG00000167996	chromatin interactions
ENSG00000160447	chromatin interactions
ENSG00000163874	chromatin interactions
ENSG00000266799	chromatin interactions
ENSG00000167774	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000171345	chromatin interactions
ENSG00000100099	chromatin interactions
ENSG00000224738	chromatin interactions
ENSG00000267855	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000104524	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000233621	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000233927	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000070756	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000108395	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000174365	chromatin interactions
ENSG00000253382	chromatin interactions
ENSG00000100104	chromatin interactions
ENSG00000272037	chromatin interactions
ENSG00000250684	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000155366	chromatin interactions
ENSG00000096968	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555594512	chr8:103818028-103818029	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs573708408	chr8:103818095-103818096	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs10589129	chr8:103818154-103818155	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs534699998	chr8:103818158-103818159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs143779934	chr8:103818246-103818247	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
6	rs79037095	chr8:103818297-103818298	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs77858128	chr8:103818333-103818334	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
8	rs546016279	chr8:103818340-103818341	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
9	rs564143155	chr8:103818374-103818375	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs193302307	chr8:103818406-103818407	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
11	rs185122088	chr8:103818414-103818415	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs561922467	chr8:103818415-103818416	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
13	rs528934909	chr8:103818482-103818483	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
14	rs534176281	chr8:103818483-103818484	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs368956853	chr8:103818529-103818530	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs189195278	chr8:103818537-103818538	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs532871546	chr8:103818540-103818541	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
18	rs554021602	chr8:103818566-103818567	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs551421337	chr8:103818640-103818641	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs569936577	chr8:103818668-103818669	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs537208721	chr8:103818673-103818674	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs549308228	chr8:103818686-103818687	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs574082826	chr8:103818708-103818709	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
24	rs567617062	chr8:103818753-103818754	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs535047873	chr8:103818769-103818770	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
26	rs2436865	chr8:103818770-103818771	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs34990692	chr8:103818774-103818775	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
28	rs577938353	chr8:103818787-103818788	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
29	rs538780500	chr8:103818854-103818855	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
30	rs35178366	chr8:103818885-103818886	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
31	rs375187349	chr8:103818887-103818888	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
32	rs10107304	chr8:103818914-103818915	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
33	rs10107236	chr8:103819023-103819024	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs562006904	chr8:103819043-103819044	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
35	rs573829831	chr8:103819147-103819148	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
36	rs541055797	chr8:103819157-103819158	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
37	rs10107447	chr8:103819160-103819161	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
38	rs371840707	chr8:103819216-103819217	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs10107743	chr8:103819237-103819238	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141984439	chr8:103819244-103819245	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs563036876	chr8:103819261-103819262	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs531057512	chr8:103819363-103819364	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs549144635	chr8:103819402-103819403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
44	rs113487030	chr8:103819420-103819421	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
45	rs528800689	chr8:103819447-103819448	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
46	rs77314830	chr8:103819470-103819471	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
47	rs571556420	chr8:103819508-103819509	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
48	rs538981182	chr8:103819509-103819510	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
49	rs545949269	chr8:103819561-103819562	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
50	rs112528209	chr8:103819615-103819616	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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

Chromatin state (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103809600-103819400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:103810000-103818200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:103814800-103818400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:103815600-103818800	Enhancers	Primary T cells from cord blood	blood
5	chr8:103815800-103818200	Enhancers	Liver	Liver
6	chr8:103816000-103818400	Enhancers	Primary B cells from peripheral blood	blood
7	chr8:103816000-103818400	Enhancers	Fetal Intestine Large	intestine
8	chr8:103816000-103818400	Enhancers	Placenta	Placenta
9	chr8:103816000-103819200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:103816200-103818200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:103816200-103818200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr8:103816200-103818200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:103816200-103818200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:103816200-103818200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:103816200-103818200	Enhancers	Fetal Intestine Small	intestine
16	chr8:103816200-103818200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:103816200-103818400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:103816200-103818400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:103816200-103818400	Enhancers	Fetal Thymus	thymus
20	chr8:103816200-103818400	Enhancers	Lung	lung
21	chr8:103816400-103818200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:103816400-103818200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:103816400-103818200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr8:103816400-103818200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:103816400-103818200	Enhancers	Dnd41	blood
26	chr8:103816400-103818400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:103816400-103818600	Enhancers	Small Intestine	intestine
28	chr8:103816400-103819200	Enhancers	Primary B cells from cord blood	blood
29	chr8:103816600-103818200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:103816600-103818200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:103816600-103818200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:103816600-103818200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:103816600-103818600	Enhancers	Fetal Lung	lung
34	chr8:103816800-103818200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:103816800-103818200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:103816800-103818200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:103816800-103818200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:103816800-103818200	Enhancers	Brain Anterior Caudate	brain
39	chr8:103816800-103818200	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:103816800-103818200	Enhancers	Brain Hippocampus Middle	brain
41	chr8:103816800-103818200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr8:103816800-103818200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:103816800-103818200	Enhancers	Fetal Kidney	kidney
44	chr8:103816800-103818200	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:103816800-103818200	Enhancers	Psoas Muscle	Psoas
46	chr8:103816800-103818200	Enhancers	NHDF-Ad	bronchial
47	chr8:103816800-103818400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:103816800-103818400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:103816800-103818400	Enhancers	Fetal Muscle Leg	muscle
50	chr8:103816800-103818400	Enhancers	Left Ventricle	heart

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