Variant report

Variant	nsv515934
Chromosome Location	chr1:46493460-46502836
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	ATF2	chr1:46502610-46503204	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:46502647-46503150	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr1:46502605-46503140	GM12878	blood:	n/a	n/a
4	BCL3	chr1:46502496-46503246	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:46502610-46503225	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:46502638-46503047	K562	blood:	n/a	n/a
7	BHLHE40	chr1:46502750-46503067	GM12878	blood:	n/a	n/a
8	CEBPB	chr1:46502789-46503045	GM12878	blood:	n/a	n/a
9	CEBPD	chr1:46502659-46503643	K562	blood:	n/a	n/a
10	CHD2	chr1:46502713-46503054	GM12878	blood:	n/a	n/a
11	CHD2	chr1:46502665-46503547	K562	blood:	n/a	n/a
12	CHD2	chr1:46502684-46502963	HepG2	liver:	n/a	n/a
13	CHD2	chr1:46502697-46503152	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr1:46502340-46502490	K562	blood:	n/a	n/a
15	CTCF	chr1:46502763-46502998	GM20000	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
16	CTCF	chr1:46500620-46500770	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr1:46501820-46501970	HEK293	kidney:	n/a	n/a
18	CTCF	chr1:46502716-46503050	K562	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
19	CTCF	chr1:46502800-46502950	AG04450	lung:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
20	CTCF	chr1:46502820-46502970	HCM	heart:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
21	CTCF	chr1:46501780-46501930	AG04449	skin:	n/a	n/a
22	CTCF	chr1:46501820-46501970	AG10803	skin:	n/a	n/a
23	CTCF	chr1:46502395-46503550	HCT-116	colon:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
24	CTCF	chr1:46502569-46503223	K562	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
25	CTCF	chr1:46500612-46500780	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:46502730-46503033	GM10266	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
27	CTCF	chr1:46501700-46501850	A549	lung:	n/a	n/a
28	CTCF	chr1:46501840-46501990	AG10803	skin:	n/a	n/a
29	CTCF	chr1:46501820-46501970	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr1:46502820-46502970	HPAF	blood vessel:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
31	CTCF	chr1:46502080-46502230	NHLF	lung:	n/a	n/a
32	CTCF	chr1:46502800-46502950	GM12866	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
33	CTCF	chr1:46502800-46502950	GM12864	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
34	CTCF	chr1:46502758-46503053	SK-N-SH_RA	brain:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
35	CTCF	chr1:46502760-46503015	H1-hESC	embryonic stem cell:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
36	CTCF	chr1:46500660-46500711	MCF-7	breast:	n/a	n/a
37	CTCF	chr1:46502820-46502970	SAEC	small airway:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
38	CTCF	chr1:46501880-46502030	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:46502800-46502950	HEEpiC	esophagus:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
40	CTCF	chr1:46502080-46502230	AG10803	skin:	n/a	n/a
41	CTCF	chr1:46501823-46501943	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr1:46502717-46503053	MCF-7	breast:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
43	CTCF	chr1:46500540-46500690	GM12875	blood:	n/a	n/a
44	CTCF	chr1:46501780-46501930	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr1:46501400-46501550	GM06990	blood:	n/a	n/a
46	CTCF	chr1:46502800-46502950	K562	blood:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
47	CTCF	chr1:46500627-46500630	GM12891	blood:	n/a	n/a
48	CTCF	chr1:46501800-46501950	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr1:46502820-46502970	HRPEpiC	eye:	n/a	chr1:46502895-46502911 chr1:46502897-46502906 chr1:46502899-46502909 chr1:46502897-46502910 chr1:46502896-46502917 chr1:46502894-46502912 chr1:46502897-46502910
50	CTCF	chr1:46501960-46502110	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:46502608-46502658	HEEpiC	esophagus:	n/a
2	chr1:46502608-46502658	MCF10A-Er-Src	breast:	n/a
3	chr1:46502608-46502658	CMK	blood:	n/a
4	chr1:46502608-46502658	HIPEpiC	eye:	n/a
5	chr1:46502608-46502658	NB4	blood:	n/a
6	chr1:46502608-46502658	GM06990	blood:	n/a
7	chr1:46502608-46502658	AG09319	gingival:	n/a
8	chr1:46502608-46502658	T-47D	breast:	n/a
9	chr1:46502608-46502658	GM12891	blood:	n/a
10	chr1:46502608-46502658	HCM	heart:	n/a
11	chr1:46502608-46502658	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:46502608-46502658	NH-A	brain:	n/a
13	chr1:46502608-46502658	NHBE	bronchial:	n/a
14	chr1:46502608-46502658	HepG2	liver:	n/a
15	chr1:46502608-46502658	AG09309	skin:	n/a
16	chr1:46502608-46502658	LNCaP	prostate:	n/a
17	chr1:46502608-46502658	GM19239	blood:	n/a
18	chr1:46502608-46502658	U87	brain:	n/a
19	chr1:46502608-46502658	AG04450	lung:	fetal
20	chr1:46502608-46502658	Jurkat	blood:	n/a
21	chr1:46502608-46502658	BJ	skin:	n/a
22	chr1:46502608-46502658	NHDF-neo	bronchial:	n/a
23	chr1:46502608-46502658	HAEpiC	amniotic membrane:	n/a
24	chr1:46502608-46502658	A549	lung:	n/a
25	chr1:46502608-46502658	K562	blood:	n/a
26	chr1:46502608-46502658	SK-N-SH	brain:	n/a
27	chr1:46502608-46502658	HCPEpiC	choroid plexus:	n/a
28	chr1:46502608-46502658	RPTEC	kidney:	n/a
29	chr1:46502608-46502658	SK-N-SH_RA	brain:	n/a
30	chr1:46502608-46502658	ECC-1	luminal epithelium:	n/a
31	chr1:46502608-46502658	HRPEpiC	eye:	n/a
32	chr1:46502608-46502658	SK-N-MC	brain:	n/a
33	chr1:46502608-46502658	HEK293	kidney:	embryo
34	chr1:46502608-46502658	GM12892	blood:	n/a
35	chr1:46502608-46502658	PFSK-1	brain:	n/a
36	chr1:46502608-46502658	HNPCEpiC	eye:	n/a
37	chr1:46502608-46502658	AG04449	skin:	fetal
38	chr1:46502608-46502658	SKMC	muscle:	n/a
39	chr1:46502608-46502658	HRE	kidney:	n/a
40	chr1:46502608-46502658	HCF	heart:	n/a
41	chr1:46502608-46502658	SAEC	small airway:	n/a
42	chr1:46502608-46502658	HL-60	blood:	n/a
43	chr1:46502608-46502658	HCT-116	colon:	n/a
44	chr1:46502608-46502658	HRCEpiC	kidney:	n/a
45	chr1:46502608-46502658	MCF-7	breast:	n/a
46	chr1:46502608-46502658	HMEC	breast:	n/a
47	chr1:46502608-46502658	IMR90	lung:	fetal
48	chr1:46502608-46502658	Hela-S3	cervix:	n/a
49	chr1:46502608-46502658	H1-hESC	embryonic stem cell:	embryo
50	chr1:46502608-46502658	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:46500117..46505906-chr1:46642218..46647717,9	K562	blood:
2	chr1:46486434..46490068-chr1:46491695..46494942,4	K562	blood:
3	chr1:46501684..46503933-chr1:46638611..46640285,2	K562	blood:
4	chr1:46494989..46496996-chr1:46515212..46517430,2	K562	blood:
5	chr1:46502035..46504255-chr1:46662505..46664043,2	K562	blood:
6	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
7	chr1:46496781..46499217-chr1:46640648..46642564,2	K562	blood:
8	chr1:46502426..46503494-chr1:46644975..46645543,3	MCF-7	breast:
9	chr1:46502630..46503505-chr1:46596675..46597385,2	Hela-S3	cervix:
10	chr1:46502375..46504805-chr1:46664271..46665927,2	K562	blood:
11	chr1:46498806..46500907-chr1:46597285..46600123,2	MCF-7	breast:
12	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
13	chr1:46500927..46503041-chr1:46594569..46596961,2	MCF-7	breast:
14	chr1:46501329..46503162-chr1:46604855..46606915,2	K562	blood:
15	chr1:46502754..46504889-chr1:46644727..46646775,2	MCF-7	breast:
16	chr1:46501987..46504531-chr1:46644237..46646306,43	K562	blood:
17	chr1:46502476..46504695-chr1:46767882..46770571,2	K562	blood:
18	chr1:46501151..46503873-chr1:46689820..46692443,2	MCF-7	breast:
19	chr1:46496210..46497962-chr1:46596487..46598924,2	MCF-7	breast:
20	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:
21	chr1:46488776..46491318-chr1:46492009..46494441,2	K562	blood:
22	chr1:46498325..46500159-chr1:46595927..46599001,3	K562	blood:
23	chr1:46502434..46503605-chr1:46644931..46645927,6	MCF-7	breast:
24	chr1:46501521..46503992-chr1:46598593..46600286,2	K562	blood:
25	chr1:46502105..46504084-chr1:46528170..46530129,2	K562	blood:
26	chr1:46501344..46502975-chr1:46637425..46639494,2	MCF-7	breast:
27	chr1:46500166..46508245-chr1:46642169..46649663,17	K562	blood:
28	chr1:46502781..46503507-chr1:46643468..46644085,2	K562	blood:
29	chr1:46502151..46503328-chr1:46688941..46690179,5	K562	blood:
30	chr1:46501257..46504423-chr1:46594631..46599309,4	MCF-7	breast:
31	chr1:46501490..46502010-chr1:46688870..46689796,2	K562	blood:
32	chr1:46502035..46506029-chr1:46661019..46664447,3	K562	blood:
33	chr1:46502496..46503477-chr1:46663439..46664734,4	K562	blood:
34	chr1:46501155..46503229-chr1:46711979..46714694,2	K562	blood:
35	chr1:46495760..46499404-chr1:46501029..46505549,6	K562	blood:
36	chr1:46499846..46501821-chr1:46501905..46505233,3	K562	blood:
37	chr1:46493789..46494398-chr1:46502594..46503341,2	K562	blood:
38	chr1:46502253..46502993-chr1:46638861..46639852,3	K562	blood:
39	chr1:46502577..46505104-chr1:46641214..46645319,3	MCF-7	breast:

Variant related genes	Relation type
MAST2	TF binding region
MAST2	CpG island
ENSG00000085999	chromatin interactions
ENSG00000250719	chromatin interactions
ENSG00000173660	chromatin interactions
ENSG00000132128	chromatin interactions
ENSG00000117472	chromatin interactions
ENSG00000227857	chromatin interactions
ENSG00000085998	chromatin interactions
ENSG00000117461	chromatin interactions
ENSG00000086015	chromatin interactions

Extended variants
information (count: 477 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:477 , 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	rs1707336	chr1:46493460-46493461	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576278578	chr1:46493463-46493464	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573978021	chr1:46493481-46493482	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374237095	chr1:46493517-46493518	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377201981	chr1:46493526-46493527	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs199840302	chr1:46493554-46493555	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562000521	chr1:46493559-46493560	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529555131	chr1:46493564-46493565	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569388488	chr1:46493586-46493587	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559919472	chr1:46493602-46493603	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs367586843	chr1:46493605-46493606	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527362841	chr1:46493617-46493618	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs552026001	chr1:46493623-46493624	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs143606091	chr1:46493644-46493645	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs114910066	chr1:46493655-46493656	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs550016417	chr1:46493730-46493731	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs568333355	chr1:46493747-46493748	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542585406	chr1:46493750-46493751	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535413806	chr1:46493882-46493883	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553214791	chr1:46493938-46493939	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147201709	chr1:46494012-46494013	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565982925	chr1:46494045-46494046	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs539921859	chr1:46494092-46494093	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557786050	chr1:46494156-46494157	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183953371	chr1:46494222-46494223	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139617600	chr1:46494224-46494225	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs188579839	chr1:46494275-46494276	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs34681549	chr1:46494287-46494288	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370530612	chr1:46494325-46494326	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573370232	chr1:46494333-46494334	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373873850	chr1:46494356-46494357	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574251463	chr1:46494376-46494377	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs115716768	chr1:46494379-46494380	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371362863	chr1:46494400-46494401	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs370216966	chr1:46494401-46494402	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs201553050	chr1:46494409-46494410	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376878000	chr1:46494425-46494426	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs370216375	chr1:46494436-46494437	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs571991613	chr1:46494443-46494444	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs372751187	chr1:46494445-46494446	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545785967	chr1:46494469-46494470	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564129687	chr1:46494488-46494489	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376009302	chr1:46494508-46494509	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200494868	chr1:46494523-46494524	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs56065470	chr1:46494553-46494554	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561900007	chr1:46494554-46494555	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191974594	chr1:46494589-46494590	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs368626024	chr1:46494592-46494593	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs371389324	chr1:46494623-46494624	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs185347733	chr1:46494627-46494628	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Neuroblastoma	21899760	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46473000-46500400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:46473600-46502600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr1:46474400-46502600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:46474600-46496600	Weak transcription	Fetal Thymus	thymus
5	chr1:46475600-46525000	Weak transcription	Fetal Kidney	kidney
6	chr1:46476200-46502600	Weak transcription	Stomach Mucosa	stomach
7	chr1:46476400-46495200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:46476600-46515800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:46477400-46493800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:46477400-46496000	Weak transcription	Small Intestine	intestine
11	chr1:46484800-46502000	Strong transcription	Fetal Intestine Small	intestine
12	chr1:46485000-46502000	Strong transcription	Fetal Stomach	stomach
13	chr1:46485800-46503000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:46486800-46502400	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:46487000-46496600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:46487000-46502000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr1:46487200-46500800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr1:46487200-46501600	Strong transcription	Fetal Brain Female	brain
19	chr1:46487600-46501600	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:46488800-46501800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:46488800-46505200	Weak transcription	HMEC	breast
22	chr1:46489400-46493800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr1:46489400-46493800	Weak transcription	GM12878-XiMat	blood
24	chr1:46489800-46493600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:46489800-46494200	Weak transcription	NHLF	lung
26	chr1:46489800-46494800	Weak transcription	Hela-S3	cervix
27	chr1:46489800-46495400	Weak transcription	Primary B cells from cord blood	blood
28	chr1:46490000-46493600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:46490000-46493600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr1:46490000-46494000	Weak transcription	Thymus	Thymus
31	chr1:46490000-46494000	Weak transcription	Spleen	Spleen
32	chr1:46490000-46494200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:46490000-46494400	Weak transcription	Aorta	Aorta
34	chr1:46490000-46494400	Weak transcription	Esophagus	oesophagus
35	chr1:46490000-46497800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:46490200-46493600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:46490200-46493600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:46490200-46493600	Weak transcription	Liver	Liver
39	chr1:46490200-46493600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:46490200-46494000	Weak transcription	NHDF-Ad	bronchial
41	chr1:46490200-46494200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr1:46490200-46494400	Weak transcription	Ovary	ovary
43	chr1:46490200-46494600	Weak transcription	Brain Angular Gyrus	brain
44	chr1:46490200-46495400	Weak transcription	Pancreas	Pancrea
45	chr1:46490200-46496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:46490200-46496400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:46490200-46524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:46490400-46493800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:46490400-46495600	Weak transcription	A549	lung
50	chr1:46490400-46498600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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