Variant report

Variant	nsv464073
Chromosome Location	chr1:154837796-154904840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1343)
CpG islands
(count:855)
Chromatin interactive
region (count:112)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:154904539-154905109	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:154885922-154886077	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:154879134-154879460	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:154837765-154837964	K562	blood:	n/a	n/a
5	ARID3A	chr1:154858527-154859152	K562	blood:	n/a	n/a
6	ARID3A	chr1:154850980-154851157	HepG2	liver:	n/a	n/a
7	ARID3A	chr1:154856483-154856824	K562	blood:	n/a	n/a
8	ATF1	chr1:154856469-154856897	K562	blood:	n/a	n/a
9	ATF1	chr1:154858630-154859228	K562	blood:	n/a	n/a
10	ATF1	chr1:154861253-154861565	K562	blood:	n/a	n/a
11	ATF2	chr1:154846916-154847414	GM12878	blood:	n/a	n/a
12	ATF2	chr1:154846917-154847406	GM12878	blood:	n/a	n/a
13	BATF	chr1:154839678-154839921	GM12878	blood:	n/a	chr1:154839771-154839782
14	BATF	chr1:154838882-154839308	GM12878	blood:	n/a	chr1:154839120-154839131 chr1:154839081-154839092
15	BATF	chr1:154850956-154851198	GM12878	blood:	n/a	n/a
16	BATF	chr1:154838976-154839186	GM12878	blood:	n/a	chr1:154839120-154839131 chr1:154839081-154839092
17	BATF	chr1:154847049-154847256	GM12878	blood:	n/a	n/a
18	BATF	chr1:154846911-154847329	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:154847000-154847353	GM12878	blood:	n/a	n/a
20	BCL3	chr1:154879871-154880264	GM12878	blood:	n/a	n/a
21	BCLAF1	chr1:154850914-154851300	GM12878	blood:	n/a	n/a
22	BCLAF1	chr1:154837866-154838344	GM12878	blood:	n/a	n/a
23	BCLAF1	chr1:154850925-154851346	GM12878	blood:	n/a	n/a
24	BHLHE40	chr1:154837996-154838323	GM12878	blood:	n/a	chr1:154838193-154838209
25	BHLHE40	chr1:154856408-154856811	K562	blood:	n/a	n/a
26	BHLHE40	chr1:154858725-154859211	K562	blood:	n/a	n/a
27	BHLHE40	chr1:154857027-154857041	K562	blood:	n/a	n/a
28	BHLHE40	chr1:154842778-154843047	K562	blood:	n/a	chr1:154842960-154842976
29	BHLHE40	chr1:154854257-154854589	HepG2	liver:	n/a	chr1:154854422-154854443 chr1:154854426-154854439 chr1:154854427-154854436
30	BHLHE40	chr1:154861404-154861586	K562	blood:	n/a	n/a
31	BHLHE40	chr1:154839110-154839393	GM12878	blood:	n/a	n/a
32	BHLHE40	chr1:154847044-154847282	GM12878	blood:	n/a	n/a
33	BHLHE40	chr1:154851119-154851212	K562	blood:	n/a	n/a
34	BHLHE40	chr1:154881568-154881600	K562	blood:	n/a	n/a
35	BHLHE40	chr1:154839116-154839345	K562	blood:	n/a	n/a
36	BHLHE40	chr1:154849911-154850190	HepG2	liver:	n/a	n/a
37	BHLHE40	chr1:154850023-154850083	K562	blood:	n/a	n/a
38	BHLHE40	chr1:154842677-154843056	GM12878	blood:	n/a	chr1:154842960-154842976
39	BRCA1	chr1:154851092-154851186	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr1:154904683-154904986	Hela-S3	cervix:	n/a	n/a
41	BRCA1	chr1:154851017-154851202	HepG2	liver:	n/a	n/a
42	BRCA1	chr1:154854483-154854617	H1-hESC	embryonic stem cell:	n/a	n/a
43	CBX3	chr1:154880838-154881204	K562	blood:	n/a	n/a
44	CBX3	chr1:154898784-154899189	K562	blood:	n/a	n/a
45	CBX3	chr1:154879181-154879561	K562	blood:	n/a	n/a
46	CBX3	chr1:154838947-154839341	K562	blood:	n/a	n/a
47	CCNT2	chr1:154861271-154861530	K562	blood:	n/a	n/a
48	CCNT2	chr1:154858693-154859085	K562	blood:	n/a	n/a
49	CCNT2	chr1:154850993-154851221	K562	blood:	n/a	n/a
50	CCNT2	chr1:154856419-154856875	K562	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154842746-154842796	MCF10A-Er-Src	breast:	n/a
2	chr1:154842746-154842796	MCF10A-Er-Src	breast:	n/a
3	chr1:154843044-154843094	HNPCEpiC	eye:	n/a
4	chr1:154839813-154839863	NHDF-neo	bronchial:	n/a
5	chr1:154843044-154843094	A549	lung:	n/a
6	chr1:154842746-154842796	HMEC	breast:	n/a
7	chr1:154839909-154839959	SK-N-MC	brain:	n/a
8	chr1:154897518-154897568	CMK	blood:	n/a
9	chr1:154841980-154842030	T-47D	breast:	n/a
10	chr1:154843044-154843094	HPAEpiC	pulmonary alveolar:	n/a
11	chr1:154842746-154842796	HCT-116	colon:	n/a
12	chr1:154841980-154842030	HRPEpiC	eye:	n/a
13	chr1:154839983-154840033	PrEC	prostate:	n/a
14	chr1:154841980-154842030	PANC-1	pancreas:	n/a
15	chr1:154839813-154839863	HUVEC	blood vessel:	n/a
16	chr1:154843044-154843094	PFSK-1	brain:	n/a
17	chr1:154842746-154842796	HCF	heart:	n/a
18	chr1:154841980-154842030	HNPCEpiC	eye:	n/a
19	chr1:154839909-154839959	AG09319	gingival:	n/a
20	chr1:154843050-154843100	HCM	heart:	n/a
21	chr1:154841980-154842030	HCT-116	colon:	n/a
22	chr1:154842746-154842796	IMR90	lung:	fetal
23	chr1:154842862-154842912	BJ	skin:	n/a
24	chr1:154842767-154842817	AG04449	skin:	fetal
25	chr1:154843050-154843100	K562	blood:	n/a
26	chr1:154842717-154842767	HAEpiC	amniotic membrane:	n/a
27	chr1:154843122-154843172	NHDF-neo	bronchial:	n/a
28	chr1:154842717-154842767	ovcar-3	ovarian:	n/a
29	chr1:154843050-154843100	PANC-1	pancreas:	n/a
30	chr1:154839813-154839863	GM19239	blood:	n/a
31	chr1:154842767-154842817	HUVEC	blood vessel:	n/a
32	chr1:154904804-154904854	IMR90	lung:	fetal
33	chr1:154842746-154842796	HCM	heart:	n/a
34	chr1:154839909-154839959	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:154839909-154839959	SK-N-SH_RA	brain:	n/a
36	chr1:154843122-154843172	Jurkat	blood:	n/a
37	chr1:154842862-154842912	T-47D	breast:	n/a
38	chr1:154843044-154843094	HCF	heart:	n/a
39	chr1:154839909-154839959	Jurkat	blood:	n/a
40	chr1:154904804-154904854	HEK293	kidney:	embryo
41	chr1:154839813-154839863	HL-60	blood:	n/a
42	chr1:154897518-154897568	HRE	kidney:	n/a
43	chr1:154897518-154897568	AG09319	gingival:	n/a
44	chr1:154843122-154843172	U87	brain:	n/a
45	chr1:154842862-154842912	PFSK-1	brain:	n/a
46	chr1:154839813-154839863	HEK293	kidney:	embryo
47	chr1:154842746-154842796	Jurkat	blood:	n/a
48	chr1:154897518-154897568	ovcar-3	ovarian:	n/a
49	chr1:154839813-154839863	HRCEpiC	kidney:	n/a
50	chr1:154841980-154842030	Hela-S3	cervix:	n/a

(count:112 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:154902125..154904691-chr1:154910364..154912646,2	K562	blood:
2	chr1:154835897..154836702-chr1:154850989..154851642,2	MCF-7	breast:
3	chr1:154745091..154747433-chr1:154836698..154838219,2	MCF-7	breast:
4	chr1:154850673..154851447-chr1:155107628..155108468,2	K562	blood:
5	chr1:154530611..154532941-chr1:154864890..154866826,3	K562	blood:
6	chr1:154882150..154887936-chr1:154908082..154910802,7	MCF-7	breast:
7	chr1:154882435..154885017-chr1:154964825..154967536,2	MCF-7	breast:
8	chr1:154880349..154881948-chr1:154884492..154887038,2	K562	blood:
9	chr1:154877727..154880578-chr1:154909694..154912244,2	MCF-7	breast:
10	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
11	chr1:154586470..154587169-chr1:154850673..154851549,2	MCF-7	breast:
12	chr1:154884926..154886519-chr1:154892159..154893677,2	MCF-7	breast:
13	chr1:154856910..154859429-chr1:154860330..154863097,2	MCF-7	breast:
14	chr1:154856910..154859429-chr1:154860330..154863097,2	MCF-7	breast:
15	chr1:154578327..154580689-chr1:154898287..154900817,2	MCF-7	breast:
16	chr1:154854131..154858067-chr1:154858764..154862484,5	K562	blood:
17	chr1:154845435..154848130-chr1:154852897..154855839,2	MCF-7	breast:
18	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
19	chr1:154886823..154888374-chr1:155057346..155059577,2	MCF-7	breast:
20	chr1:154642183..154644763-chr1:154849809..154851514,2	MCF-7	breast:
21	chr1:154882778..154883698-chr1:154989669..154990611,2	K562	blood:
22	chr1:154738174..154739219-chr1:154850720..154851591,9	MCF-7	breast:
23	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
24	chr1:154900855..154902464-chr1:154938532..154940932,2	K562	blood:
25	chr1:154878990..154879698-chr1:154916003..154917099,3	MCF-7	breast:
26	chr1:154885018..154887470-chr1:155022221..155024315,2	MCF-7	breast:
27	chr1:154900011..154901853-chr1:154902099..154904633,2	K562	blood:
28	chr1:154857099..154859852-chr1:154946554..154949088,2	K562	blood:
29	chr1:154858585..154859443-chr15:88730294..88731056,2	MCF-7	breast:
30	chr1:154897179..154899202-chr1:154902262..154904996,2	K562	blood:
31	chr1:154842738..154843321-chr1:154850684..154851201,2	K562	blood:
32	chr1:154901094..154903589-chr1:154973486..154975306,2	K562	blood:
33	chr1:154897126..154900008-chr1:155040809..155042688,2	MCF-7	breast:
34	chr1:154881013..154882772-chr1:154900438..154902039,2	MCF-7	breast:
35	chr1:154831109..154833831-chr1:154838313..154840043,2	MCF-7	breast:
36	chr1:154844363..154847365-chr1:154847993..154851967,4	K562	blood:
37	chr1:154884926..154886519-chr1:154892159..154893677,2	MCF-7	breast:
38	chr1:154807296..154809029-chr1:154856227..154858930,2	K562	blood:
39	chr1:154835876..154837706-chr1:154845124..154847917,3	MCF-7	breast:
40	chr1:154862185..154864763-chr1:154865065..154866622,2	K562	blood:
41	chr1:154886112..154888306-chr1:154903481..154905396,2	K562	blood:
42	chr1:154878889..154879807-chr1:155033687..155034617,2	K562	blood:
43	chr1:154880263..154882530-chr1:154985215..154987910,2	K562	blood:
44	chr1:154886112..154888306-chr1:154903481..154905396,2	K562	blood:
45	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
46	chr1:154854688..154856959-chr1:154860372..154862285,3	K562	blood:
47	chr1:154903050..154905621-chr1:154907770..154910146,3	K562	blood:
48	chr1:154844363..154847365-chr1:154847993..154851967,4	K562	blood:
49	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
50	chr1:154898414..154901108-chr1:154965094..154967313,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMVK-6	chr1:154877513-154877872	expReg_chr1_16325_-
2	lnc-PMVK-7	chr1:154875959-154876532	expReg_chr1_16324_-
3	lnc-PMVK-8	chr1:154874765-154874969	expReg_chr1_16321_-
4	lnc-PMVK-3	chr1:154880039-154883076	expRegAs_chr1_16333_-
5	lnc-PMVK-4	chr1:154878566-154878768	expRegAs_chr1_16331_-
6	lnc-PMVK-5	chr1:154877982-154878314	expReg_chr1_16327_-
7	lnc-PMVK-2	chr1:154883080-154883596	expRegAs_chr1_16334_-

No data

Variant related genes	Relation type
KCNN3	TF binding region
KCNN3	CpG island
ENSG00000169241	chromatin interactions
ENSG00000163352	chromatin interactions
ENSG00000160688	chromatin interactions
ENSG00000271380	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000143603	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000264349	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000273110	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000163344	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000160710	chromatin interactions
ENSG00000270361	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000163348	chromatin interactions
ENSG00000188229	chromatin interactions

Extended variants
information (count: 2128 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:2128 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7553195	chr1:154837796-154837797	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533557523	chr1:154837797-154837798	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189961300	chr1:154837830-154837831	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181271767	chr1:154837876-154837877	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs142530292	chr1:154837877-154837878	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs549326379	chr1:154837895-154837896	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs150565018	chr1:154837898-154837899	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139597657	chr1:154837933-154837934	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs116839452	chr1:154837939-154837940	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565751083	chr1:154838010-154838011	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs4845677	chr1:154838050-154838051	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs186248233	chr1:154838093-154838094	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570120272	chr1:154838095-154838096	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149758147	chr1:154838146-154838147	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs78139082	chr1:154838207-154838208	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs530699164	chr1:154838208-154838209	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs369646140	chr1:154838253-154838254	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs535043012	chr1:154838269-154838270	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs144229706	chr1:154838270-154838271	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs561152403	chr1:154838311-154838312	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs578126657	chr1:154838316-154838317	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190625438	chr1:154838401-154838402	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs148726926	chr1:154838434-154838435	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs575775658	chr1:154838444-154838445	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs576481763	chr1:154838474-154838475	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs545535371	chr1:154838556-154838557	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371220440	chr1:154838619-154838620	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs561558838	chr1:154838642-154838643	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs144700216	chr1:154838695-154838696	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs547394886	chr1:154838782-154838783	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs147896754	chr1:154838856-154838857	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs533168429	chr1:154838879-154838880	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs370019195	chr1:154838880-154838881	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs373270114	chr1:154838881-154838882	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs139998867	chr1:154838883-154838884	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs6664414	chr1:154838968-154838969	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs537570234	chr1:154839009-154839010	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs145508071	chr1:154839025-154839026	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs567568266	chr1:154839035-154839036	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs534989087	chr1:154839047-154839048	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs553394102	chr1:154839151-154839152	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs367683144	chr1:154839168-154839169	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs546675535	chr1:154839191-154839192	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs538939951	chr1:154839255-154839256	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs374422726	chr1:154839295-154839296	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs369127614	chr1:154839346-154839347	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs35130860	chr1:154839356-154839357	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs557181197	chr1:154839370-154839371	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs77965255	chr1:154839422-154839423	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs59465212	chr1:154839425-154839426	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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

Chromatin state (count:1559 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:154827600-154839400	Enhancers	Fetal Brain Male	brain
3	chr1:154831200-154839800	Enhancers	Psoas Muscle	Psoas
4	chr1:154831400-154839400	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:154831800-154839400	Enhancers	Fetal Thymus	thymus
6	chr1:154832400-154840000	Enhancers	K562	blood
7	chr1:154832800-154837800	Enhancers	HSMMtube	muscle
8	chr1:154833000-154839200	Weak transcription	Right Atrium	heart
9	chr1:154833200-154838400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:154833200-154839800	Weak transcription	Left Ventricle	heart
11	chr1:154835000-154837800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:154835400-154839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:154835400-154840000	Flanking Active TSS	GM12878-XiMat	blood
14	chr1:154835600-154838200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:154835600-154839200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:154836000-154838000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:154836000-154838600	Enhancers	Thymus	Thymus
18	chr1:154836000-154839400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:154836200-154838400	Weak transcription	Brain Germinal Matrix	brain
20	chr1:154836200-154838600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:154836400-154840600	Enhancers	Spleen	Spleen
22	chr1:154836400-154841600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr1:154836600-154837800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:154836600-154838400	Enhancers	Brain Anterior Caudate	brain
25	chr1:154836600-154838600	Weak transcription	Fetal Heart	heart
26	chr1:154836600-154839200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:154836600-154840600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:154836800-154837800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:154836800-154839200	Weak transcription	Right Ventricle	heart
30	chr1:154836800-154839600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr1:154837000-154838400	Weak transcription	HSMM	muscle
32	chr1:154837000-154838600	Weak transcription	Brain Substantia Nigra	brain
33	chr1:154837000-154838600	Weak transcription	NH-A	brain
34	chr1:154837000-154839200	Weak transcription	Lung	lung
35	chr1:154837000-154839400	Weak transcription	Esophagus	oesophagus
36	chr1:154837000-154839600	Enhancers	Primary B cells from cord blood	blood
37	chr1:154837200-154838600	Enhancers	Pancreas	Pancrea
38	chr1:154837200-154839200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr1:154837200-154842200	Active TSS	Colon Smooth Muscle	Colon
40	chr1:154837400-154837800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:154837400-154838000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr1:154837400-154838200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:154837400-154838400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:154837400-154839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:154837400-154839400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:154837600-154838200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:154837600-154838400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:154837600-154838600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:154837600-154838800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:154837600-154839000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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