Variant report

Variant	esv3366048
Chromosome Location	chr8:126440820-126444518
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	chr8:126444057-126444072	K562	blood:	n/a	n/a
2	ARID3A	chr8:126442326-126442724	K562	blood:	n/a	n/a
3	ARID3A	chr8:126442284-126442757	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:126444281-126444801	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:126444273-126444598	K562	blood:	n/a	n/a
6	ARID3A	chr8:126441792-126442066	HepG2	liver:	n/a	n/a
7	ATF1	chr8:126441743-126442709	K562	blood:	n/a	chr8:126442154-126442168
8	ATF2	chr8:126444162-126444639	GM12878	blood:	n/a	n/a
9	ATF2	chr8:126441953-126442276	GM12878	blood:	n/a	chr8:126442154-126442168 chr8:126442156-126442167
10	ATF2	chr8:126444213-126444532	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr8:126443928-126444584	GM12878	blood:	n/a	n/a
12	ATF2	chr8:126441716-126442756	GM12878	blood:	n/a	chr8:126442154-126442168 chr8:126442156-126442167
13	ATF2	chr8:126441977-126442754	H1-hESC	embryonic stem cell:	n/a	chr8:126442154-126442168 chr8:126442156-126442167
14	ATF2	chr8:126441763-126442787	H1-hESC	embryonic stem cell:	n/a	chr8:126442154-126442168 chr8:126442156-126442167
15	ATF3	chr8:126441687-126442982	A549	lung:	n/a	chr8:126442158-126442166 chr8:126442156-126442167 chr8:126442155-126442168 chr8:126442225-126442234 chr8:126442156-126442169 chr8:126442158-126442168 chr8:126442156-126442167 chr8:126442229-126442238
16	ATF3	chr8:126442286-126442750	K562	blood:	n/a	n/a
17	ATF3	chr8:126443581-126444558	A549	lung:	n/a	n/a
18	ATF3	chr8:126442180-126442814	A549	lung:	n/a	chr8:126442225-126442234 chr8:126442229-126442238
19	ATF3	chr8:126442195-126442689	K562	blood:	n/a	chr8:126442225-126442234 chr8:126442229-126442238
20	ATF3	chr8:126443685-126444542	A549	lung:	n/a	n/a
21	BACH1	chr8:126441786-126441881	K562	blood:	n/a	n/a
22	BACH1	chr8:126442991-126443124	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr8:126444083-126444421	K562	blood:	n/a	n/a
24	BACH1	chr8:126441350-126441450	K562	blood:	n/a	n/a
25	BACH1	chr8:126441315-126442669	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr8:126444401-126444486	H1-hESC	embryonic stem cell:	n/a	n/a
27	BATF	chr8:126442341-126442693	GM12878	blood:	n/a	n/a
28	BATF	chr8:126441679-126441998	GM12878	blood:	n/a	chr8:126441857-126441868
29	BCL11A	chr8:126441812-126442159	GM12878	blood:	n/a	chr8:126441993-126442006
30	BCL3	chr8:126441126-126442971	A549	lung:	n/a	chr8:126441372-126441385 chr8:126442425-126442438 chr8:126442177-126442186 chr8:126442429-126442442 chr8:126441993-126442006 chr8:126442807-126442820 chr8:126442808-126442821 chr8:126442813-126442822 chr8:126442810-126442823
31	BCL3	chr8:126443417-126444453	A549	lung:	n/a	chr8:126443669-126443678 chr8:126444212-126444220
32	BCL3	chr8:126441855-126442788	GM12878	blood:	n/a	chr8:126442425-126442438 chr8:126442177-126442186 chr8:126442429-126442442 chr8:126441993-126442006
33	BCL3	chr8:126442242-126442884	A549	lung:	n/a	chr8:126442425-126442438 chr8:126442429-126442442 chr8:126442807-126442820 chr8:126442808-126442821 chr8:126442813-126442822 chr8:126442810-126442823
34	BCLAF1	chr8:126441968-126442748	GM12878	blood:	n/a	chr8:126442425-126442438 chr8:126442177-126442186 chr8:126442429-126442442 chr8:126441993-126442006
35	BCLAF1	chr8:126442089-126442662	GM12878	blood:	n/a	chr8:126442425-126442438 chr8:126442177-126442186 chr8:126442429-126442442
36	BCLAF1	chr8:126443176-126443885	GM12878	blood:	n/a	chr8:126443669-126443678
37	BCLAF1	chr8:126444034-126444542	GM12878	blood:	n/a	chr8:126444212-126444220
38	BHLHE40	chr8:126443510-126443787	K562	blood:	n/a	n/a
39	BHLHE40	chr8:126441475-126442743	GM12878	blood:	n/a	chr8:126442012-126442028 chr8:126441910-126441926 chr8:126441644-126441660 chr8:126441652-126441668
40	BHLHE40	chr8:126444079-126444603	GM12878	blood:	n/a	n/a
41	BHLHE40	chr8:126443520-126443877	GM12878	blood:	n/a	n/a
42	BHLHE40	chr8:126444273-126444533	HepG2	liver:	n/a	n/a
43	BHLHE40	chr8:126444118-126445090	K562	blood:	n/a	n/a
44	BHLHE40	chr8:126441841-126442772	HepG2	liver:	n/a	chr8:126442012-126442028 chr8:126441910-126441926
45	BHLHE40	chr8:126441386-126443149	K562	blood:	n/a	chr8:126442012-126442028 chr8:126441910-126441926 chr8:126442807-126442823 chr8:126441644-126441660 chr8:126441652-126441668 chr8:126442813-126442829
46	BRCA1	chr8:126441872-126442730	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr8:126443631-126443893	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr8:126441346-126441442	GM12878	blood:	n/a	n/a
49	BRCA1	chr8:126442393-126442760	HepG2	liver:	n/a	n/a
50	BRCA1	chr8:126444107-126444595	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:126444349-126444399	HCF	heart:	n/a
2	chr8:126443014-126443064	HRCEpiC	kidney:	n/a
3	chr8:126442431-126442481	IMR90	lung:	fetal
4	chr8:126442431-126442481	HNPCEpiC	eye:	n/a
5	chr8:126444349-126444399	HCF	heart:	n/a
6	chr8:126443014-126443064	HRCEpiC	kidney:	n/a
7	chr8:126442431-126442481	IMR90	lung:	fetal
8	chr8:126442431-126442481	HNPCEpiC	eye:	n/a
9	chr8:126442472-126442522	SKMC	muscle:	n/a
10	chr8:126441383-126441433	HAEpiC	amniotic membrane:	n/a
11	chr8:126442446-126442496	GM12891	blood:	n/a
12	chr8:126442449-126442499	SK-N-SH_RA	brain:	n/a
13	chr8:126442581-126442631	AG04450	lung:	fetal
14	chr8:126444251-126444301	RPTEC	kidney:	n/a
15	chr8:126442587-126442637	Hepatocyte	liver:	n/a
16	chr8:126442747-126442797	HEK293	kidney:	embryo
17	chr8:126443767-126443817	GM12891	blood:	n/a
18	chr8:126443767-126443817	AG10803	skin:	n/a
19	chr8:126441753-126441803	PANC-1	pancreas:	n/a
20	chr8:126444349-126444399	ECC-1	luminal epithelium:	n/a
21	chr8:126441393-126441443	HRCEpiC	kidney:	n/a
22	chr8:126442446-126442496	SKMC	muscle:	n/a
23	chr8:126442587-126442637	HPAEpiC	pulmonary alveolar:	n/a
24	chr8:126442431-126442481	NT2-D1	testis:	n/a
25	chr8:126444349-126444399	CMK	blood:	n/a
26	chr8:126442581-126442631	NHBE	bronchial:	n/a
27	chr8:126442299-126442349	A549	lung:	n/a
28	chr8:126442060-126442110	NH-A	brain:	n/a
29	chr8:126443014-126443064	K562	blood:	n/a
30	chr8:126443014-126443064	GM12892	blood:	n/a
31	chr8:126441753-126441803	AG04450	lung:	fetal
32	chr8:126442581-126442631	Caco-2	colon:	n/a
33	chr8:126441393-126441443	Hela-S3	cervix:	n/a
34	chr8:126442449-126442499	GM12892	blood:	n/a
35	chr8:126443014-126443064	HIPEpiC	eye:	n/a
36	chr8:126441383-126441433	SKMC	muscle:	n/a
37	chr8:126441997-126442047	AoSMC	blood vessel:	n/a
38	chr8:126441383-126441433	AoSMC	blood vessel:	n/a
39	chr8:126442434-126442484	H1-hESC	embryonic stem cell:	embryo
40	chr8:126442060-126442110	SK-N-MC	brain:	n/a
41	chr8:126443767-126443817	HCM	heart:	n/a
42	chr8:126442060-126442110	NT2-D1	testis:	n/a
43	chr8:126441383-126441433	A549	lung:	n/a
44	chr8:126443767-126443817	K562	blood:	n/a
45	chr8:126442747-126442797	A549	lung:	n/a
46	chr8:126442581-126442631	GM12891	blood:	n/a
47	chr8:126442446-126442496	GM19239	blood:	n/a
48	chr8:126442060-126442110	NB4	blood:	n/a
49	chr8:126442587-126442637	T-47D	breast:	n/a
50	chr8:126443767-126443817	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36544227..36545755-chr8:126441431..126444271,2	MCF-7	breast:
2	chr8:126392836..126396701-chr8:126439754..126442098,3	MCF-7	breast:
3	chr14:21458014..21458635-chr8:126442241..126442991,2	Hela-S3	cervix:
4	chr6:97730833..97731489-chr8:126442102..126442847,2	HCT-116	colon:
5	chr4:120133188..120133842-chr8:126442570..126443136,2	HCT-116	colon:
6	chr8:126361514..126365167-chr8:126440219..126443605,3	K562	blood:
7	chr8:126101740..126106410-chr8:126441508..126444796,5	MCF-7	breast:
8	chr11:67158736..67159360-chr8:126441508..126442128,2	Hela-S3	cervix:
9	chr17:38256169..38256674-chr8:126441503..126442227,2	Hela-S3	cervix:
10	chr1:115124113..115124667-chr8:126442091..126442879,2	Hela-S3	cervix:
11	chr5:138089739..138090262-chr8:126440998..126441567,2	Hela-S3	cervix:
12	chr1:228270694..228272754-chr8:126441550..126443960,2	MCF-7	breast:
13	chr17:56708566..56709323-chr8:126442440..126443001,2	HCT-116	colon:
14	chr8:126441570..126442157-chr9:96928113..96928890,2	Hela-S3	cervix:
15	chr8:126443664..126444354-chr9:137000189..137001139,2	HCT-116	colon:
16	chr1:17231301..17232205-chr8:126443378..126443976,2	HCT-116	colon:
17	chr19:46233620..46234337-chr8:126442117..126442771,2	Hela-S3	cervix:
18	chr18:26187575..26188075-chr8:126441565..126442226,2	NB4	blood:
19	chr8:126194440..126196761-chr8:126440520..126442418,2	MCF-7	breast:
20	chr8:126281825..126283978-chr8:126442164..126443779,2	K562	blood:
21	chr8:126412879..126414831-chr8:126440456..126442134,2	MCF-7	breast:
22	chr8:126103818..126106100-chr8:126441528..126444004,2	K562	blood:
23	chr8:126289014..126291245-chr8:126440114..126442015,2	MCF-7	breast:
24	chr11:47399997..47402556-chr8:126443816..126446707,2	MCF-7	breast:
25	chr8:126136568..126138069-chr8:126439799..126441480,2	MCF-7	breast:
26	chr8:126319216..126321150-chr8:126442622..126444295,2	MCF-7	breast:
27	chr8:126100915..126106135-chr8:126441974..126444669,8	MCF-7	breast:
28	chr19:38852887..38853409-chr8:126442063..126443013,2	Hela-S3	cervix:
29	chr22:50963482..50964232-chr8:126442574..126443424,2	HCT-116	colon:
30	chr19:42363610..42364497-chr8:126442503..126443017,2	HCT-116	colon:
31	chr16:2014423..2015234-chr8:126441171..126441947,2	Hela-S3	cervix:
32	chr12:50135344..50136171-chr8:126443648..126444329,2	Hela-S3	cervix:
33	chr8:126371278..126373915-chr8:126440851..126442526,2	MCF-7	breast:
34	chr8:126442729..126444290-chr8:126611048..126613106,2	MCF-7	breast:
35	chr7:100464019..100464889-chr8:126442460..126443145,2	Hela-S3	cervix:
36	chr6:36515055..36515860-chr8:126442339..126442957,2	HCT-116	colon:
37	chr11:67805971..67806654-chr8:126442470..126443020,2	Hela-S3	cervix:
38	chr8:126112294..126114961-chr8:126440449..126443868,3	MCF-7	breast:
39	chr8:126441684..126444249-chr8:127568995..127571626,4	MCF-7	breast:
40	chr8:126367782..126370387-chr8:126440468..126442210,2	K562	blood:
41	chr8:126439858..126442559-chr8:126576058..126577661,2	MCF-7	breast:
42	chr8:126439520..126441495-chr8:126640041..126642897,2	MCF-7	breast:
43	chr8:126126335..126143313-chr8:126439680..126445836,35	MCF-7	breast:
44	chr8:126242033..126243257-chr8:126442565..126443586,3	MCF-7	breast:
45	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
46	chr8:126440357..126442550-chr8:126518210..126520213,2	K562	blood:
47	chr8:126441642..126443564-chr8:127568775..127570380,2	MCF-7	breast:
48	chr8:126409326..126412304-chr8:126440467..126442135,2	MCF-7	breast:
49	chr8:126123096..126125735-chr8:126439490..126442539,3	MCF-7	breast:

Variant related genes	Relation type
TRIB1	TF binding region
TRIB1	CpG island
ENSG00000254286	chromatin interactions
ENSG00000178636	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000242170	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000161277	chromatin interactions
ENSG00000156831	chromatin interactions
ENSG00000066336	chromatin interactions
ENSG00000226684	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000165792	chromatin interactions
ENSG00000044115	chromatin interactions
ENSG00000254010	chromatin interactions
ENSG00000112079	chromatin interactions
ENSG00000266963	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000168672	chromatin interactions
ENSG00000116752	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000087077	chromatin interactions
ENSG00000146263	chromatin interactions
ENSG00000143761	chromatin interactions
ENSG00000177051	chromatin interactions
ENSG00000254431	chromatin interactions
ENSG00000273249	chromatin interactions
ENSG00000196363	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000130489	chromatin interactions
ENSG00000164961	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000255198	chromatin interactions
ENSG00000269946	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 145 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374996171	chr8:126440833-126440834	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs72647323	chr8:126440867-126440868	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs2385112	chr8:126440902-126440903	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs185828811	chr8:126440917-126440918	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs72647324	chr8:126440918-126440919	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541477283	chr8:126440987-126440988	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs561547973	chr8:126441028-126441029	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs575237513	chr8:126441043-126441044	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs373823308	chr8:126441156-126441157	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544147390	chr8:126441170-126441171	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs190287926	chr8:126441234-126441235	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs13256040	chr8:126441244-126441245	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs13256108	chr8:126441311-126441312	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs13253963	chr8:126441321-126441322	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs72647325	chr8:126441324-126441325	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs532603417	chr8:126441343-126441344	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs182448760	chr8:126441348-126441349	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs13254741	chr8:126441362-126441363	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs13254005	chr8:126441364-126441365	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs187708686	chr8:126441367-126441368	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs13254008	chr8:126441370-126441371	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs13256394	chr8:126441396-126441397	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs13254294	chr8:126441401-126441402	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs528075908	chr8:126441403-126441404	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs547810566	chr8:126441432-126441433	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs567741158	chr8:126441445-126441446	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs536913717	chr8:126441629-126441630	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs550471002	chr8:126441644-126441645	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs149642118	chr8:126441650-126441651	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs539112015	chr8:126441660-126441661	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs559379045	chr8:126441661-126441662	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs142938599	chr8:126441662-126441663	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs533092232	chr8:126441670-126441671	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs558999120	chr8:126441705-126441706	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs572479618	chr8:126441740-126441741	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs534992029	chr8:126441747-126441748	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs554971233	chr8:126441762-126441763	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs149261320	chr8:126441797-126441798	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs58173440	chr8:126441807-126441808	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs574898174	chr8:126441853-126441854	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs544085291	chr8:126441914-126441915	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs563875312	chr8:126441928-126441929	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs4871594	chr8:126442065-126442066	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs546116108	chr8:126442078-126442079	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs2891681	chr8:126442112-126442113	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs559379211	chr8:126442116-126442117	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs569621891	chr8:126442159-126442160	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs183961152	chr8:126442202-126442203	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs547897699	chr8:126442235-126442236	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs561307032	chr8:126442346-126442347	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:145)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Gastric cancer	21635755	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126423400-126441200	Weak transcription	Right Atrium	heart
2	chr8:126430400-126441000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:126433000-126441200	Weak transcription	HMEC	breast
4	chr8:126435400-126441200	Weak transcription	GM12878-XiMat	blood
5	chr8:126436000-126441200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:126436200-126441000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:126436400-126441200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr8:126436800-126441400	Weak transcription	Ovary	ovary
9	chr8:126438200-126441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:126438200-126441000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:126438200-126441200	Enhancers	Colonic Mucosa	Colon
12	chr8:126438200-126441200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr8:126438400-126441200	Weak transcription	Lung	lung
14	chr8:126438600-126441200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:126438600-126441200	Weak transcription	Left Ventricle	heart
16	chr8:126438800-126441200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:126438800-126441200	Enhancers	Hela-S3	cervix
18	chr8:126438800-126441400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:126438800-126441400	Weak transcription	Liver	Liver
20	chr8:126439000-126441200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:126439000-126441400	Enhancers	Fetal Thymus	thymus
22	chr8:126439200-126441200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:126439200-126441400	Weak transcription	Esophagus	oesophagus
24	chr8:126439400-126441200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:126439400-126441200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:126439400-126441200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:126439600-126441000	Weak transcription	Fetal Intestine Large	intestine
28	chr8:126439600-126441000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:126439600-126441200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:126439600-126441200	Weak transcription	Adipose Nuclei	Adipose
31	chr8:126439600-126441200	Weak transcription	Brain Hippocampus Middle	brain
32	chr8:126439800-126441000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:126439800-126441000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:126439800-126441000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:126439800-126441000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:126439800-126441000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:126439800-126441000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:126439800-126441000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:126439800-126441000	Weak transcription	Brain Germinal Matrix	brain
40	chr8:126439800-126441000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr8:126439800-126441000	Weak transcription	Fetal Brain Female	brain
42	chr8:126439800-126441000	Weak transcription	Fetal Stomach	stomach
43	chr8:126439800-126441000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:126439800-126441000	Weak transcription	Stomach Mucosa	stomach
45	chr8:126439800-126441000	Enhancers	A549	lung
46	chr8:126439800-126441000	Weak transcription	NH-A	brain
47	chr8:126439800-126441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:126439800-126441200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:126439800-126441200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:126439800-126441200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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