Variant report

Variant	nsv8447
Chromosome Location	chr1:155144629-155156937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1296)
CpG islands
(count:1652)
Chromatin interactive
region (count:64)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:155145673-155145999	HepG2	liver:	n/a	n/a
2	ATF2	chr1:155145467-155146160	GM12878	blood:	n/a	chr1:155145598-155145612
3	ATF3	chr1:155145458-155146113	A549	lung:	n/a	n/a
4	ATF3	chr1:155145535-155146066	A549	lung:	n/a	n/a
5	BACH1	chr1:155145480-155146211	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:155146690-155147059	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr1:155145612-155145973	GM12878	blood:	n/a	n/a
8	BCL3	chr1:155145521-155146126	A549	lung:	n/a	n/a
9	BCL3	chr1:155145363-155146192	A549	lung:	n/a	n/a
10	BCLAF1	chr1:155145498-155146100	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:155145552-155146004	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:155145150-155146007	K562	blood:	n/a	n/a
13	BHLHE40	chr1:155145148-155145310	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:155145500-155146044	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr1:155145519-155146060	K562	blood:	n/a	n/a
16	CCNT2	chr1:155145162-155145953	K562	blood:	n/a	n/a
17	CEBPB	chr1:155148329-155148815	MCF-7	breast:	n/a	chr1:155148556-155148567
18	CEBPB	chr1:155149071-155149454	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr1:155145676-155145982	HepG2	liver:	n/a	n/a
20	CEBPB	chr1:155151315-155151708	A549	lung:	n/a	n/a
21	CEBPB	chr1:155145681-155146021	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:155151307-155151705	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr1:155151254-155151748	K562	blood:	n/a	n/a
24	CEBPB	chr1:155145641-155146070	MCF-7	breast:	n/a	n/a
25	CEBPB	chr1:155151256-155151770	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:155151317-155151671	K562	blood:	n/a	n/a
27	CEBPB	chr1:155145671-155146029	K562	blood:	n/a	n/a
28	CEBPB	chr1:155148431-155148659	Hela-S3	cervix:	n/a	chr1:155148556-155148567
29	CEBPB	chr1:155148440-155148671	A549	lung:	n/a	chr1:155148556-155148567
30	CEBPB	chr1:155149109-155149403	K562	blood:	n/a	n/a
31	CEBPB	chr1:155151325-155151674	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:155151384-155151663	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr1:155151303-155151743	K562	blood:	n/a	n/a
34	CEBPB	chr1:155145762-155145910	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:155151261-155151798	MCF-7	breast:	n/a	n/a
36	CEBPB	chr1:155145615-155146017	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr1:155151314-155151701	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:155151321-155151701	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:155151312-155151692	HepG2	liver:	n/a	n/a
40	CEBPB	chr1:155148497-155148716	HepG2	liver:	n/a	chr1:155148556-155148567
41	CEBPB	chr1:155145671-155145971	K562	blood:	n/a	n/a
42	CEBPB	chr1:155151336-155151600	HepG2	liver:	n/a	n/a
43	CEBPB	chr1:155151319-155151676	A549	lung:	n/a	n/a
44	CEBPB	chr1:155145676-155146028	A549	lung:	n/a	n/a
45	CEBPB	chr1:155151241-155151779	A549	lung:	n/a	n/a
46	CEBPB	chr1:155151394-155151709	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPD	chr1:155145391-155145893	HepG2	liver:	n/a	n/a
48	CEBPD	chr1:155151244-155151761	K562	blood:	n/a	n/a
49	CEBPD	chr1:155151249-155151680	HepG2	liver:	n/a	n/a
50	CEBPD	chr1:155151375-155151630	HepG2	liver:	n/a	n/a

(count:1652 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155152367-155152417	GM12891	blood:	n/a
2	chr1:155148157-155148207	SK-N-SH	brain:	n/a
3	chr1:155145515-155145565	Hepatocyte	liver:	n/a
4	chr1:155145882-155145932	GM06990	blood:	n/a
5	chr1:155145220-155145270	NT2-D1	testis:	n/a
6	chr1:155152367-155152417	GM12891	blood:	n/a
7	chr1:155148157-155148207	SK-N-SH	brain:	n/a
8	chr1:155145515-155145565	Hepatocyte	liver:	n/a
9	chr1:155145882-155145932	GM06990	blood:	n/a
10	chr1:155145220-155145270	NT2-D1	testis:	n/a
11	chr1:155145786-155145836	MCF10A-Er-Src	breast:	n/a
12	chr1:155145555-155145605	Hela-S3	cervix:	n/a
13	chr1:155146720-155146770	GM06990	blood:	n/a
14	chr1:155146302-155146352	T-47D	breast:	n/a
15	chr1:155146720-155146770	HNPCEpiC	eye:	n/a
16	chr1:155145252-155145302	AG04450	lung:	fetal
17	chr1:155145882-155145932	AG04449	skin:	fetal
18	chr1:155145515-155145565	HRPEpiC	eye:	n/a
19	chr1:155148157-155148207	U87	brain:	n/a
20	chr1:155145774-155145824	GM06990	blood:	n/a
21	chr1:155146497-155146547	PANC-1	pancreas:	n/a
22	chr1:155146720-155146770	RPTEC	kidney:	n/a
23	chr1:155148157-155148207	A549	lung:	n/a
24	chr1:155147160-155147210	HUVEC	blood vessel:	n/a
25	chr1:155145515-155145565	HRCEpiC	kidney:	n/a
26	chr1:155145786-155145836	HRCEpiC	kidney:	n/a
27	chr1:155144902-155144952	K562	blood:	n/a
28	chr1:155145252-155145302	NHBE	bronchial:	n/a
29	chr1:155150019-155150069	IMR90	lung:	fetal
30	chr1:155147160-155147210	HEK293	kidney:	embryo
31	chr1:155146497-155146547	AG04450	lung:	fetal
32	chr1:155145780-155145830	NHBE	bronchial:	n/a
33	chr1:155147397-155147447	GM12891	blood:	n/a
34	chr1:155156300-155156350	LNCaP	prostate:	n/a
35	chr1:155148157-155148207	PFSK-1	brain:	n/a
36	chr1:155156300-155156350	U87	brain:	n/a
37	chr1:155146497-155146547	HIPEpiC	eye:	n/a
38	chr1:155147397-155147447	HRPEpiC	eye:	n/a
39	chr1:155150019-155150069	HNPCEpiC	eye:	n/a
40	chr1:155145555-155145605	IMR90	lung:	fetal
41	chr1:155147431-155147481	HRE	kidney:	n/a
42	chr1:155146785-155146835	HNPCEpiC	eye:	n/a
43	chr1:155145774-155145824	PrEC	prostate:	n/a
44	chr1:155145515-155145565	IMR90	lung:	fetal
45	chr1:155145228-155145278	CMK	blood:	n/a
46	chr1:155150019-155150069	NH-A	brain:	n/a
47	chr1:155145926-155145976	SK-N-SH_RA	brain:	n/a
48	chr1:155145252-155145302	NHDF-neo	bronchial:	n/a
49	chr1:155145515-155145565	Caco-2	colon:	n/a
50	chr1:155145515-155145565	NHBE	bronchial:	n/a

(count:64 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:155102095..155105261-chr1:155144437..155147447,3	K562	blood:
2	chr1:155145241..155146055-chr1:249119766..249120747,2	Hela-S3	cervix:
3	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
4	chr1:155146416..155150261-chr1:155194777..155198198,7	MCF-7	breast:
5	chr1:155064648..155066932-chr1:155147928..155150182,2	K562	blood:
6	chr1:155145241..155146117-chr6:32939671..32940179,2	HCT-116	colon:
7	chr1:155110723..155112742-chr1:155150988..155153173,2	K562	blood:
8	chr1:155139568..155140486-chr1:155148663..155149519,2	K562	blood:
9	chr1:155053097..155054666-chr1:155148381..155150762,2	MCF-7	breast:
10	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
11	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
12	chr1:155155866..155157645-chr1:155191595..155193213,2	MCF-7	breast:
13	chr1:155149492..155150014-chr1:155161259..155161836,2	MCF-7	breast:
14	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
15	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
16	chr1:155149010..155149798-chr1:155292525..155293331,4	K562	blood:
17	chr1:155111752..155114583-chr1:155147267..155150123,4	MCF-7	breast:
18	chr1:155148507..155150033-chr1:155162898..155164095,27	MCF-7	breast:
19	chr1:155062424..155064059-chr1:155147918..155149990,2	K562	blood:
20	chr1:155030728..155033754-chr1:155154705..155158020,3	K562	blood:
21	chr1:155148495..155149762-chr1:155196236..155196972,5	MCF-7	breast:
22	chr1:155057862..155060802-chr1:155145958..155147519,2	K562	blood:
23	chr1:155107108..155109934-chr1:155145596..155147858,3	K562	blood:
24	chr1:155035026..155037423-chr1:155149492..155151258,2	MCF-7	breast:
25	chr1:155146543..155149271-chr1:155213227..155215655,2	K562	blood:
26	chr1:155066706..155067679-chr1:155149226..155149765,2	MCF-7	breast:
27	chr1:155148862..155150825-chr1:155499842..155501461,2	MCF-7	breast:
28	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
29	chr1:155149477..155151291-chr1:155230798..155233673,2	MCF-7	breast:
30	chr1:155149535..155150526-chr1:155162691..155163480,2	MCF-7	breast:
31	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
32	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
33	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
34	chr1:155144509..155147724-chr1:155241916..155244574,3	MCF-7	breast:
35	chr1:155050575..155052612-chr1:155144958..155146789,2	MCF-7	breast:
36	chr1:155149130..155149875-chr1:155176389..155177179,2	MCF-7	breast:
37	chr1:155145257..155146073-chr20:43882743..43883438,2	Hela-S3	cervix:
38	chr1:155021809..155025289-chr1:155144477..155147497,3	K562	blood:
39	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
40	chr1:155110723..155114225-chr1:155147854..155154401,7	K562	blood:
41	chr1:155148823..155149771-chr1:155196116..155196635,2	K562	blood:
42	chr1:155148380..155150190-chr1:155292147..155294545,2	MCF-7	breast:
43	chr1:155148830..155149338-chr1:155220083..155220748,2	K562	blood:
44	chr1:155148094..155148734-chr1:155176753..155177302,2	MCF-7	breast:
45	chr1:155140056..155140720-chr1:155149675..155150429,2	K562	blood:
46	chr1:155149084..155150074-chr1:155196318..155196838,2	MCF-7	breast:
47	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
48	chr1:155148758..155149726-chr1:155162834..155163883,7	K562	blood:
49	chr1:155015970..155018698-chr1:155144403..155146699,2	K562	blood:
50	chr1:155059639..155063596-chr1:155149285..155151101,3	MCF-7	breast:

No data

Variant related genes	Relation type
TRIM46	TF binding region
KRTCAP2	TF binding region
TRIM46	CpG island
KRTCAP2	CpG island
ENSG00000176444	chromatin interactions
ENSG00000251246	chromatin interactions
ENSG00000116521	chromatin interactions
ENSG00000179085	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000232093	chromatin interactions
ENSG00000243364	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000160753	chromatin interactions
ENSG00000124107	chromatin interactions
ENSG00000169241	chromatin interactions
ENSG00000177628	chromatin interactions
ENSG00000264500	chromatin interactions
ENSG00000185499	chromatin interactions
ENSG00000175137	chromatin interactions
ENSG00000225855	chromatin interactions
ENSG00000169231	chromatin interactions
ENSG00000160766	chromatin interactions
ENSG00000169242	chromatin interactions

Extended variants
information (count: 461 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192156213	chr1:155144657-155144658	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs564587884	chr1:155144722-155144723	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs368665639	chr1:155144751-155144752	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs58939130	chr1:155144757-155144758	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35995892	chr1:155144865-155144866	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs11264340	chr1:155144870-155144871	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs371270389	chr1:155144887-155144888	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs556954583	chr1:155144895-155144896	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs376317314	chr1:155144923-155144924	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs574874449	chr1:155144989-155144990	Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs200955916	chr1:155145018-155145019	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs200041628	chr1:155145058-155145059	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs200430293	chr1:155145077-155145078	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs150295746	chr1:155145097-155145098	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs368098245	chr1:155145138-155145139	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs375445153	chr1:155145155-155145156	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs572752863	chr1:155145222-155145223	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs142437742	chr1:155145253-155145254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs369840909	chr1:155145262-155145263	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs138648521	chr1:155145288-155145289	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs11547202	chr1:155145298-155145299	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs11813	chr1:155145313-155145314	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs373294163	chr1:155145328-155145329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs17854920	chr1:155145356-155145357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs200865365	chr1:155145362-155145363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs377512582	chr1:155145376-155145377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs41264911	chr1:155145392-155145393	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373450421	chr1:155145393-155145394	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs200364715	chr1:155145395-155145396	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs185113349	chr1:155145401-155145402	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs376639701	chr1:155145428-155145429	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs530106473	chr1:155145442-155145443	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs149562975	chr1:155145447-155145448	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs567175830	chr1:155145626-155145627	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs534199834	chr1:155145660-155145661	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs74980878	chr1:155145668-155145669	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs376452045	chr1:155145690-155145691	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs370529024	chr1:155145697-155145698	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs144579240	chr1:155145712-155145713	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs374855733	chr1:155145713-155145714	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
41	rs141865060	chr1:155145717-155145718	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
42	rs538757076	chr1:155145744-155145745	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
43	rs147936640	chr1:155145747-155145748	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
44	rs556637431	chr1:155145751-155145752	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
45	rs368223709	chr1:155145756-155145757	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs551900242	chr1:155145757-155145758	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs371241351	chr1:155145764-155145765	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs145673508	chr1:155145769-155145770	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
49	rs371951041	chr1:155145787-155145788	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs145938518	chr1:155145800-155145801	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Dihydropyrimidine dehydrogenase deficiency	18421352	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155134200-155145000	Weak transcription	Small Intestine	intestine
2	chr1:155140400-155144800	Weak transcription	Psoas Muscle	Psoas
3	chr1:155142200-155144800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155142400-155144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:155142400-155144800	Weak transcription	Gastric	stomach
6	chr1:155142400-155145000	Weak transcription	Pancreas	Pancrea
7	chr1:155142600-155145000	Weak transcription	Esophagus	oesophagus
8	chr1:155143000-155144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:155143200-155144800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:155143200-155144800	Weak transcription	Fetal Kidney	kidney
11	chr1:155143200-155144800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:155143200-155145000	Weak transcription	Aorta	Aorta
13	chr1:155143600-155145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:155143600-155145000	Weak transcription	Ovary	ovary
15	chr1:155144000-155144800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:155144000-155144800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:155144000-155144800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:155144000-155144800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:155144200-155144800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:155144200-155144800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:155144200-155144800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:155144200-155144800	Enhancers	Liver	Liver
23	chr1:155144200-155144800	Weak transcription	Spleen	Spleen
24	chr1:155144200-155145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:155144200-155145000	Weak transcription	Lung	lung
26	chr1:155144400-155144800	Enhancers	Adipose Nuclei	Adipose
27	chr1:155144400-155144800	Enhancers	Colon Smooth Muscle	Colon
28	chr1:155144400-155144800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:155144400-155144800	Enhancers	Fetal Intestine Large	intestine
30	chr1:155144400-155144800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr1:155144400-155144800	Enhancers	Fetal Stomach	stomach
32	chr1:155144400-155144800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr1:155144400-155144800	Transcr. at gene 5' and 3'	K562	blood
34	chr1:155144400-155145000	Enhancers	Primary T cells from cord blood	blood
35	chr1:155144400-155145000	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:155144400-155145000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:155144400-155145000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr1:155144400-155145000	Enhancers	Fetal Heart	heart
39	chr1:155144400-155145200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:155144400-155145200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:155144600-155144800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr1:155144600-155144800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr1:155144600-155144800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:155144600-155144800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:155144600-155144800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr1:155144600-155144800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr1:155144600-155144800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:155144600-155144800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:155144600-155144800	Enhancers	Brain Angular Gyrus	brain
50	chr1:155144600-155144800	Enhancers	Brain Cingulate Gyrus	brain

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