Variant report

Variant	nsv432953
Chromosome Location	chr1:154820067-154855055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1523)
CpG islands
(count:1225)
Chromatin interactive
region (count:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:154850980-154851157	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:154837765-154837964	K562	blood:	n/a	n/a
3	ATF1	chr1:154836148-154836459	K562	blood:	n/a	n/a
4	ATF2	chr1:154846917-154847406	GM12878	blood:	n/a	n/a
5	ATF2	chr1:154832026-154833433	GM12878	blood:	n/a	n/a
6	ATF2	chr1:154829291-154829691	GM12878	blood:	n/a	n/a
7	ATF2	chr1:154846916-154847414	GM12878	blood:	n/a	n/a
8	ATF2	chr1:154832131-154833309	GM12878	blood:	n/a	n/a
9	ATF2	chr1:154835781-154836695	GM12878	blood:	n/a	n/a
10	ATF2	chr1:154830042-154830712	GM12878	blood:	n/a	n/a
11	ATF2	chr1:154822055-154822537	GM12878	blood:	n/a	n/a
12	ATF2	chr1:154822017-154822653	GM12878	blood:	n/a	n/a
13	ATF2	chr1:154835767-154836825	GM12878	blood:	n/a	n/a
14	BATF	chr1:154839678-154839921	GM12878	blood:	n/a	chr1:154839771-154839782
15	BATF	chr1:154822074-154822443	GM12878	blood:	n/a	n/a
16	BATF	chr1:154830265-154830701	GM12878	blood:	n/a	chr1:154830486-154830497
17	BATF	chr1:154838976-154839186	GM12878	blood:	n/a	chr1:154839120-154839131 chr1:154839081-154839092
18	BATF	chr1:154835849-154836108	GM12878	blood:	n/a	n/a
19	BATF	chr1:154830294-154830641	GM12878	blood:	n/a	chr1:154830486-154830497
20	BATF	chr1:154838882-154839308	GM12878	blood:	n/a	chr1:154839120-154839131 chr1:154839081-154839092
21	BATF	chr1:154832179-154833312	GM12878	blood:	n/a	chr1:154832343-154832352
22	BATF	chr1:154822035-154822569	GM12878	blood:	n/a	n/a
23	BATF	chr1:154850956-154851198	GM12878	blood:	n/a	n/a
24	BATF	chr1:154836217-154836544	GM12878	blood:	n/a	chr1:154836424-154836434 chr1:154836423-154836434
25	BATF	chr1:154847049-154847256	GM12878	blood:	n/a	n/a
26	BATF	chr1:154846911-154847329	GM12878	blood:	n/a	n/a
27	BATF	chr1:154836150-154836623	GM12878	blood:	n/a	chr1:154836424-154836434 chr1:154836423-154836434
28	BCL11A	chr1:154847000-154847353	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:154832720-154833151	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:154822075-154822475	GM12878	blood:	n/a	chr1:154822242-154822251 chr1:154822241-154822250
31	BCL11A	chr1:154836129-154836614	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:154836197-154836592	GM12878	blood:	n/a	n/a
33	BCL11A	chr1:154832608-154833265	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:154822029-154822487	GM12878	blood:	n/a	chr1:154822242-154822251 chr1:154822241-154822250
35	BCL3	chr1:154836066-154836559	GM12878	blood:	n/a	n/a
36	BCL3	chr1:154832699-154833335	GM12878	blood:	n/a	n/a
37	BCL3	chr1:154830319-154830706	GM12878	blood:	n/a	n/a
38	BCL3	chr1:154822050-154822663	GM12878	blood:	n/a	chr1:154822242-154822251 chr1:154822241-154822250
39	BCLAF1	chr1:154822101-154822421	GM12878	blood:	n/a	chr1:154822242-154822251 chr1:154822241-154822250
40	BCLAF1	chr1:154850925-154851346	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:154835985-154836723	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:154850914-154851300	GM12878	blood:	n/a	n/a
43	BCLAF1	chr1:154832167-154833405	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:154822039-154822534	GM12878	blood:	n/a	chr1:154822242-154822251 chr1:154822241-154822250
45	BCLAF1	chr1:154830080-154830823	GM12878	blood:	n/a	n/a
46	BCLAF1	chr1:154836049-154836916	GM12878	blood:	n/a	n/a
47	BCLAF1	chr1:154837866-154838344	GM12878	blood:	n/a	n/a
48	BCLAF1	chr1:154832006-154833478	GM12878	blood:	n/a	n/a
49	BHLHE40	chr1:154850023-154850083	K562	blood:	n/a	n/a
50	BHLHE40	chr1:154842677-154843056	GM12878	blood:	n/a	chr1:154842960-154842976

(count:1225 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154832235-154832285	SKMC	muscle:	n/a
2	chr1:154843044-154843094	Hela-S3	cervix:	n/a
3	chr1:154832535-154832585	Hela-S3	cervix:	n/a
4	chr1:154842767-154842817	SAEC	small airway:	n/a
5	chr1:154839983-154840033	GM19239	blood:	n/a
6	chr1:154832235-154832285	SKMC	muscle:	n/a
7	chr1:154843044-154843094	Hela-S3	cervix:	n/a
8	chr1:154832535-154832585	Hela-S3	cervix:	n/a
9	chr1:154842767-154842817	SAEC	small airway:	n/a
10	chr1:154839983-154840033	GM19239	blood:	n/a
11	chr1:154832535-154832585	HCT-116	colon:	n/a
12	chr1:154839813-154839863	NH-A	brain:	n/a
13	chr1:154841980-154842030	HAEpiC	amniotic membrane:	n/a
14	chr1:154842717-154842767	HepG2	liver:	n/a
15	chr1:154843122-154843172	MCF-7	breast:	n/a
16	chr1:154832235-154832285	PANC-1	pancreas:	n/a
17	chr1:154842746-154842796	NH-A	brain:	n/a
18	chr1:154834293-154834343	GM12878	blood:	n/a
19	chr1:154843122-154843172	GM12878	blood:	n/a
20	chr1:154832235-154832285	ECC-1	luminal epithelium:	n/a
21	chr1:154842862-154842912	Jurkat	blood:	n/a
22	chr1:154839813-154839863	PFSK-1	brain:	n/a
23	chr1:154839983-154840033	HEEpiC	esophagus:	n/a
24	chr1:154843122-154843172	MCF10A-Er-Src	breast:	n/a
25	chr1:154833117-154833167	NB4	blood:	n/a
26	chr1:154842767-154842817	GM06990	blood:	n/a
27	chr1:154839909-154839959	ECC-1	luminal epithelium:	n/a
28	chr1:154842862-154842912	HepG2	liver:	n/a
29	chr1:154842767-154842817	AG09309	skin:	n/a
30	chr1:154842746-154842796	NT2-D1	testis:	n/a
31	chr1:154843044-154843094	HAEpiC	amniotic membrane:	n/a
32	chr1:154834293-154834343	GM12892	blood:	n/a
33	chr1:154843044-154843094	HCT-116	colon:	n/a
34	chr1:154833117-154833167	PrEC	prostate:	n/a
35	chr1:154843314-154843364	NH-A	brain:	n/a
36	chr1:154821946-154821996	AoSMC	blood vessel:	n/a
37	chr1:154842717-154842767	T-47D	breast:	n/a
38	chr1:154843314-154843364	NHDF-neo	bronchial:	n/a
39	chr1:154839813-154839863	PrEC	prostate:	n/a
40	chr1:154843314-154843364	ECC-1	luminal epithelium:	n/a
41	chr1:154843044-154843094	NHDF-neo	bronchial:	n/a
42	chr1:154841980-154842030	ProgFib	skin:	n/a
43	chr1:154821946-154821996	Hepatocyte	liver:	n/a
44	chr1:154842767-154842817	NB4	blood:	n/a
45	chr1:154833700-154833750	K562	blood:	n/a
46	chr1:154821946-154821996	GM06990	blood:	n/a
47	chr1:154833117-154833167	NH-A	brain:	n/a
48	chr1:154843122-154843172	SK-N-SH_RA	brain:	n/a
49	chr1:154834293-154834343	NHBE	bronchial:	n/a
50	chr1:154833121-154833171	NB4	blood:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:154586470..154587169-chr1:154850673..154851549,2	MCF-7	breast:
2	chr1:154830014..154831577-chr6:31809567..31811071,2	K562	blood:
3	chr1:154829274..154831457-chr1:154833879..154837058,3	K562	blood:
4	chr1:154832792..154836317-chr1:154841340..154844437,3	K562	blood:
5	chr1:154842738..154843321-chr1:154850684..154851201,2	K562	blood:
6	chr1:154845435..154848130-chr1:154852897..154855839,2	MCF-7	breast:
7	chr1:154844710..154847396-chr1:154974560..154977442,2	K562	blood:
8	chr1:154823084..154826737-chr1:154829485..154832130,3	K562	blood:
9	chr1:154823084..154826737-chr1:154829485..154832130,3	K562	blood:
10	chr1:154738195..154738722-chr1:154850574..154851210,2	MCF-7	breast:
11	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
12	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
13	chr1:154532085..154532922-chr1:154850731..154851574,4	MCF-7	breast:
14	chr1:154827805..154830333-chr1:154834809..154836322,2	MCF-7	breast:
15	chr1:154530563..154532390-chr1:154836555..154839204,2	K562	blood:
16	chr1:154642183..154644763-chr1:154849809..154851514,2	MCF-7	breast:
17	chr1:154807696..154809910-chr1:154820298..154822379,2	MCF-7	breast:
18	chr1:154531372..154532440-chr1:154850697..154851289,4	MCF-7	breast:
19	chr1:154771337..154773585-chr1:154832415..154834960,2	MCF-7	breast:
20	chr1:154835897..154836702-chr1:154850989..154851642,2	MCF-7	breast:
21	chr1:154732985..154733689-chr1:154850662..154851410,2	K562	blood:
22	chr1:154801371..154804323-chr1:154835493..154837251,2	MCF-7	breast:
23	chr1:154854131..154858067-chr1:154858764..154862484,5	K562	blood:
24	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
25	chr1:154781476..154783319-chr1:154818716..154820251,2	K562	blood:
26	chr1:154845435..154848130-chr1:154852897..154855839,2	MCF-7	breast:
27	chr1:154835897..154836702-chr1:154850989..154851642,2	MCF-7	breast:
28	chr1:154850719..154853708-chr1:154868283..154870650,2	MCF-7	breast:
29	chr1:154848210..154851147-chr1:154969290..154972007,2	K562	blood:
30	chr1:154723642..154724526-chr1:154850849..154851381,2	MCF-7	breast:
31	chr1:154641915..154643065-chr1:154850985..154851524,3	MCF-7	breast:
32	chr1:154829152..154831379-chr1:154835811..154838261,2	K562	blood:
33	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
34	chr1:154531579..154532180-chr1:154850720..154851668,3	K562	blood:
35	chr1:154814172..154816492-chr1:154821493..154823120,2	K562	blood:
36	chr1:154814154..154816151-chr1:154819703..154821824,2	K562	blood:
37	chr1:154732930..154733557-chr1:154850674..154851626,3	MCF-7	breast:
38	chr1:154831109..154833831-chr1:154838313..154840043,2	MCF-7	breast:
39	chr1:154793548..154796604-chr1:154817553..154820667,3	MCF-7	breast:
40	chr1:154837856..154840689-chr1:154908471..154910619,2	MCF-7	breast:
41	chr1:154850673..154851447-chr1:155107628..155108468,2	K562	blood:
42	chr1:154835228..154837630-chr1:154839759..154842729,3	MCF-7	breast:
43	chr1:154835876..154837706-chr1:154845124..154847917,3	MCF-7	breast:
44	chr1:154835187..154837273-chr1:154839083..154841729,2	K562	blood:
45	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
46	chr1:154730023..154732605-chr1:154848497..154850117,2	K562	blood:
47	chr1:154452484..154453008-chr1:154850669..154851579,2	K562	blood:
48	chr1:154829152..154831379-chr1:154835811..154838261,2	K562	blood:
49	chr1:154574246..154575826-chr1:154839450..154841062,2	K562	blood:
50	chr1:154829274..154831457-chr1:154833879..154837058,3	K562	blood:

No data

Variant related genes	Relation type
KCNN3	TF binding region
KCNN3	CpG island
ENSG00000270361	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000163344	chromatin interactions
ENSG00000143603	chromatin interactions
ENSG00000273110	chromatin interactions
ENSG00000160710	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000169241	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1218559	chr1:154820067-154820068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34975315	chr1:154820089-154820090	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140888348	chr1:154820167-154820168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs545422719	chr1:154820192-154820193	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs563633740	chr1:154820211-154820212	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs575539286	chr1:154820222-154820223	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs1218558	chr1:154820248-154820249	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189450037	chr1:154820310-154820311	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs150391034	chr1:154820360-154820361	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs374308559	chr1:154820419-154820420	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs559028333	chr1:154820421-154820422	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs138181065	chr1:154820423-154820424	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs369650445	chr1:154820429-154820430	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs113047457	chr1:154820430-154820431	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs192398531	chr1:154820443-154820444	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs1218557	chr1:154820444-154820445	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs34404937	chr1:154820464-154820465	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs536618281	chr1:154820495-154820496	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs549292548	chr1:154820502-154820503	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs567411430	chr1:154820517-154820518	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs142845690	chr1:154820528-154820529	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs146102643	chr1:154820530-154820531	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs578152103	chr1:154820558-154820559	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs571067476	chr1:154820576-154820577	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs185342635	chr1:154820577-154820578	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs557153667	chr1:154820578-154820579	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs575629971	chr1:154820608-154820609	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs114485418	chr1:154820619-154820620	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs570267442	chr1:154820637-154820638	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs573414264	chr1:154820665-154820666	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs529936276	chr1:154820674-154820675	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs537831685	chr1:154820696-154820697	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs533258994	chr1:154820712-154820713	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs554632989	chr1:154820723-154820724	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs574581040	chr1:154820735-154820736	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs142112042	chr1:154820748-154820749	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs551086513	chr1:154820765-154820766	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs61104084	chr1:154820768-154820769	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs377515092	chr1:154820814-154820815	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs60328853	chr1:154820815-154820816	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370344180	chr1:154820839-154820840	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs113489901	chr1:154820858-154820859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs546907265	chr1:154820861-154820862	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs571512747	chr1:154820921-154820922	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs540367749	chr1:154820929-154820930	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs538821433	chr1:154820964-154820965	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs557444170	chr1:154820970-154820971	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs35282563	chr1:154820990-154820991	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs190203872	chr1:154821014-154821015	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs181310927	chr1:154821017-154821018	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	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
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	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
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:1333 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:154812000-154822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154812400-154824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:154812600-154822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:154813800-154821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154813800-154822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:154814800-154820400	Weak transcription	Pancreas	Pancrea
9	chr1:154815800-154820200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:154815800-154823200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:154816800-154820200	Enhancers	Fetal Brain Female	brain
12	chr1:154817000-154820200	Enhancers	Brain Germinal Matrix	brain
13	chr1:154817600-154820200	Enhancers	Brain Anterior Caudate	brain
14	chr1:154817600-154820200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:154817600-154821200	Enhancers	Psoas Muscle	Psoas
16	chr1:154817800-154820200	Enhancers	Brain Angular Gyrus	brain
17	chr1:154817800-154823200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr1:154818000-154820200	Enhancers	Brain Hippocampus Middle	brain
19	chr1:154818000-154820200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr1:154818000-154820200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:154818000-154820200	Enhancers	Brain Substantia Nigra	brain
22	chr1:154818000-154821000	Enhancers	Left Ventricle	heart
23	chr1:154818000-154821200	Enhancers	Spleen	Spleen
24	chr1:154818400-154820200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr1:154818400-154820800	Enhancers	Ovary	ovary
26	chr1:154818600-154820400	Enhancers	GM12878-XiMat	blood
27	chr1:154818800-154820400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:154818800-154821200	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:154819000-154820200	Weak transcription	Fetal Lung	lung
30	chr1:154819200-154820800	Enhancers	Right Atrium	heart
31	chr1:154819200-154822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:154819200-154828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:154819400-154820200	Weak transcription	Fetal Thymus	thymus
34	chr1:154819400-154820400	Weak transcription	Lung	lung
35	chr1:154819400-154822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:154819400-154822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:154819400-154822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:154819400-154824200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:154819800-154820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:154819800-154820200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:154819800-154820200	Weak transcription	Placenta	Placenta
42	chr1:154819800-154821600	Enhancers	Right Ventricle	heart
43	chr1:154819800-154821800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:154820000-154820400	Enhancers	Colon Smooth Muscle	Colon
45	chr1:154820000-154820800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:154820000-154821200	Enhancers	Fetal Stomach	stomach
47	chr1:154820000-154821800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:154820000-154821800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:154820000-154824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:154820000-154826000	Enhancers	Skeletal Muscle Female	skeletal muscle

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