Variant report

Variant	rs6114981
Chromosome Location	chr20:24974401-24974402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr20:24974122-24974840	MCF-7	breast:	n/a	n/a
2	CTCF	chr20:24974380-24974530	HRE	kidney:	n/a	n/a
3	CTCF	chr20:24974380-24974530	HPF	lung:	n/a	n/a
4	CTCF	chr20:24974380-24974530	AG04449	skin:	n/a	n/a
5	E2F4	chr20:24972905-24974465	MCF10A-Er-Src	breast:	n/a	chr20:24973329-24973339 chr20:24973368-24973378
6	CTCF	chr20:24974340-24974490	HCM	heart:	n/a	n/a
7	RAD21	chr20:24974296-24974546	GM12878	blood:	n/a	n/a
8	CTCF	chr20:24972584-24976092	A549	lung:	n/a	n/a
9	CTCF	chr20:24974300-24974450	HEK293	kidney:	n/a	n/a
10	CTCF	chr20:24974380-24974530	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr20:24974360-24974510	HCPEpiC	choroid plexus:	n/a	n/a
12	RAD21	chr20:24972827-24974927	SK-N-SH	brain:	n/a	chr20:24973647-24973661
13	CTCF	chr20:24974400-24974550	HCM	heart:	n/a	n/a
14	CTCF	chr20:24974340-24974490	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr20:24974340-24974490	HFF-Myc	foreskin:	n/a	n/a
16	RAD21	chr20:24974245-24974679	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr20:24974400-24974550	HEEpiC	esophagus:	n/a	n/a
18	CTCF	chr20:24974360-24974510	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr20:24974380-24974530	BJ	skin:	n/a	n/a
20	CTCF	chr20:24974320-24974470	HAc	cerebellar:	n/a	n/a
21	POLR2A	chr20:24970881-24974631	IMR90	lung:	n/a	n/a
22	CTCF	chr20:24974400-24974550	HMEC	breast:	n/a	n/a
23	RAD21	chr20:24974331-24974654	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr20:24974360-24974510	AG04450	lung:	n/a	n/a
25	CTCF	chr20:24974320-24974470	GM12864	blood:	n/a	n/a
26	CTCF	chr20:24974348-24974556	A549	lung:	n/a	n/a
27	POLR2A	chr20:24972739-24974856	GM12878	blood:	n/a	n/a
28	CTCF	chr20:24974155-24974693	MCF-7	breast:	n/a	n/a
29	CTCF	chr20:24974340-24974490	SK-N-SH_RA	brain:	n/a	n/a
30	SMC3	chr20:24974080-24974737	GM12878	blood:	n/a	n/a
31	CTCF	chr20:24974360-24974510	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr20:24974400-24974550	BE2_C	brain:	n/a	n/a
33	CTCF	chr20:24974380-24974530	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr20:24974247-24974662	GM12878	blood:	n/a	n/a
35	GABPA	chr20:24972451-24974850	MCF-7	breast:	n/a	n/a
36	CTCF	chr20:24974349-24974585	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr20:24974360-24974510	GM12874	blood:	n/a	n/a
38	CTCF	chr20:24974360-24974510	AG10803	skin:	n/a	n/a
39	CTCF	chr20:24974400-24974550	WI-38	lung:	n/a	n/a
40	CTCF	chr20:24974360-24974510	GM12864	blood:	n/a	n/a
41	SMC3	chr20:24974183-24974763	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr20:24974380-24974530	HMF	breast:	n/a	n/a
43	CTCF	chr20:24974400-24974550	GM06990	blood:	n/a	n/a
44	CTCF	chr20:24974306-24974628	A549	lung:	n/a	n/a
45	CTCF	chr20:24974400-24974550	GM12870	blood:	n/a	n/a
46	CTCF	chr20:24974400-24974550	GM12878	blood:	n/a	n/a
47	RAD21	chr20:24974317-24974595	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr20:24974360-24974510	AG09309	skin:	n/a	n/a
49	RAD21	chr20:24974152-24974788	HCT-116	colon:	n/a	n/a
50	CTCF	chr20:24974115-24974644	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:24974362-24974412	HEEpiC	esophagus:	n/a
2	chr20:24974362-24974412	U87	brain:	n/a
3	chr20:24974362-24974412	AG09319	gingival:	n/a
4	chr20:24974362-24974412	LNCaP	prostate:	n/a
5	chr20:24974362-24974412	Jurkat	blood:	n/a
6	chr20:24974362-24974412	AG04450	lung:	fetal
7	chr20:24974362-24974412	HNPCEpiC	eye:	n/a
8	chr20:24974362-24974412	A549	lung:	n/a
9	chr20:24974362-24974412	HEK293	kidney:	embryo
10	chr20:24974362-24974412	AoSMC	blood vessel:	n/a
11	chr20:24974362-24974412	PFSK-1	brain:	n/a
12	chr20:24974362-24974412	NHBE	bronchial:	n/a
13	chr20:24974362-24974412	HPAEpiC	pulmonary alveolar:	n/a
14	chr20:24974362-24974412	SK-N-SH	brain:	n/a
15	chr20:24974362-24974412	MCF10A-Er-Src	breast:	n/a
16	chr20:24974362-24974412	HL-60	blood:	n/a
17	chr20:24974362-24974412	PANC-1	pancreas:	n/a
18	chr20:24974362-24974412	CMK	blood:	n/a
19	chr20:24974362-24974412	ECC-1	luminal epithelium:	n/a
20	chr20:24974362-24974412	MCF-7	breast:	n/a
21	chr20:24974362-24974412	NT2-D1	testis:	n/a
22	chr20:24974362-24974412	GM06990	blood:	n/a
23	chr20:24974362-24974412	AG04449	skin:	fetal
24	chr20:24974362-24974412	AG09309	skin:	n/a
25	chr20:24974362-24974412	GM12892	blood:	n/a
26	chr20:24974362-24974412	GM12878	blood:	n/a
27	chr20:24974362-24974412	HCPEpiC	choroid plexus:	n/a
28	chr20:24974362-24974412	HRCEpiC	kidney:	n/a
29	chr20:24974362-24974412	HRPEpiC	eye:	n/a
30	chr20:24974362-24974412	HRE	kidney:	n/a
31	chr20:24974362-24974412	HepG2	liver:	n/a
32	chr20:24974362-24974412	GM19239	blood:	n/a
33	chr20:24974362-24974412	HCM	heart:	n/a
34	chr20:24974362-24974412	HIPEpiC	eye:	n/a
35	chr20:24974362-24974412	NH-A	brain:	n/a
36	chr20:24974362-24974412	BE2_C	brain:	n/a
37	chr20:24974362-24974412	HAEpiC	amniotic membrane:	n/a
38	chr20:24974362-24974412	SAEC	small airway:	n/a
39	chr20:24974362-24974412	HUVEC	blood vessel:	n/a
40	chr20:24974362-24974412	GM12891	blood:	n/a
41	chr20:24974362-24974412	RPTEC	kidney:	n/a
42	chr20:24974362-24974412	T-47D	breast:	n/a
43	chr20:24974362-24974412	BJ	skin:	n/a
44	chr20:24974362-24974412	ovcar-3	ovarian:	n/a
45	chr20:24974362-24974412	Hepatocyte	liver:	n/a
46	chr20:24974362-24974412	H1-hESC	embryonic stem cell:	embryo
47	chr20:24974362-24974412	SK-N-SH_RA	brain:	n/a
48	chr20:24974362-24974412	HMEC	breast:	n/a
49	chr20:24974362-24974412	Hela-S3	cervix:	n/a
50	chr20:24974362-24974412	SKMC	muscle:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24972188..24974753-chr20:24992355..24994002,2	K562	blood:
2	chr20:24970831..24976063-chr20:25037253..25040567,5	MCF-7	breast:
3	chr20:24972013..24974485-chr20:25388171..25390084,2	MCF-7	breast:
4	chr20:24973762..24975336-chr20:25378149..25379762,2	MCF-7	breast:
5	chr20:24974024..24975149-chr20:25046038..25047090,7	MCF-7	breast:
6	chr20:24971936..24974944-chr20:25175039..25178381,3	MCF-7	breast:
7	chr20:24972575..24975462-chr20:25603621..25605250,2	K562	blood:
8	chr20:24972059..24974449-chr20:25176101..25177683,2	MCF-7	breast:
9	chr20:24974184..24976552-chr20:25044724..25047326,32	MCF-7	breast:
10	chr20:24973677..24976371-chr20:25035249..25037062,2	MCF-7	breast:
11	chr20:24974051..24974784-chr20:25159865..25160396,2	MCF-7	breast:
12	chr20:24974373..24975913-chr20:24978993..24980704,2	MCF-7	breast:
13	chr20:24971839..24974533-chr20:25228512..25230139,2	MCF-7	breast:
14	chr20:24972184..24974531-chr20:25057258..25059368,3	MCF-7	breast:

No data

Variant related genes	Relation type
APMAP	TF binding region
APMAP	CpG island
ENSG00000100987	Chromatin interaction
ENSG00000170191	Chromatin interaction
ENSG00000154930	Chromatin interaction
ENSG00000101003	Chromatin interaction
ENSG00000100994	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000213742	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1007881	0.86[JPT][hapmap]
rs1056033	0.88[ASN][1000 genomes]
rs1056036	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11700073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11905625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11906373	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12625319	0.86[ASN][1000 genomes]
rs13041643	0.88[ASN][1000 genomes]
rs1331286	0.83[ASN][1000 genomes]
rs1535042	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1854849	0.83[ASN][1000 genomes]
rs1977540	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008275	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2092565	0.88[ASN][1000 genomes]
rs2103736	0.88[ASN][1000 genomes]
rs2151462	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2151463	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2179729	0.88[ASN][1000 genomes]
rs2179730	0.86[ASN][1000 genomes]
rs2179732	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2225459	0.88[ASN][1000 genomes]
rs2235847	0.85[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs227590	0.85[ASN][1000 genomes]
rs227597	0.83[ASN][1000 genomes]
rs227598	0.80[ASN][1000 genomes]
rs227613	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs227614	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227615	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227616	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227618	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227619	0.93[ASN][1000 genomes]
rs227620	0.93[ASN][1000 genomes]
rs227621	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227622	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227623	0.93[ASN][1000 genomes]
rs227624	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227626	0.93[ASN][1000 genomes]
rs227627	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs227628	0.93[ASN][1000 genomes]
rs227629	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227630	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227631	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227632	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227633	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227634	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227635	0.93[ASN][1000 genomes]
rs227639	0.93[ASN][1000 genomes]
rs227643	0.93[ASN][1000 genomes]
rs227646	0.93[ASN][1000 genomes]
rs227648	0.93[ASN][1000 genomes]
rs227649	0.83[ASN][1000 genomes]
rs227650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227651	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227652	0.93[ASN][1000 genomes]
rs227653	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs227657	0.93[ASN][1000 genomes]
rs227658	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs227659	0.93[ASN][1000 genomes]
rs2387365	0.83[ASN][1000 genomes]
rs2387366	0.88[ASN][1000 genomes]
rs2387572	0.88[ASN][1000 genomes]
rs2424691	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2892279	0.86[ASN][1000 genomes]
rs34419834	0.88[ASN][1000 genomes]
rs3746330	0.82[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4273288	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4527284	0.82[ASN][1000 genomes]
rs4539860	0.88[ASN][1000 genomes]
rs45468392	0.93[ASN][1000 genomes]
rs45556041	0.93[ASN][1000 genomes]
rs4813541	0.88[ASN][1000 genomes]
rs4813542	0.88[ASN][1000 genomes]
rs4815325	0.80[EUR][1000 genomes]
rs4815327	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4815337	0.88[ASN][1000 genomes]
rs4815339	0.86[ASN][1000 genomes]
rs4815340	0.88[ASN][1000 genomes]
rs4815341	0.86[ASN][1000 genomes]
rs4815351	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4815355	0.88[ASN][1000 genomes]
rs4815357	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs56312312	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57265446	0.95[ASN][1000 genomes]
rs58244398	0.97[ASN][1000 genomes]
rs6036976	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6050134	0.83[ASN][1000 genomes]
rs6050177	0.86[ASN][1000 genomes]
rs6050179	0.86[ASN][1000 genomes]
rs6050181	0.86[ASN][1000 genomes]
rs6050198	0.85[CHB][hapmap]
rs6050201	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6050249	0.82[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap]
rs6050255	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs6050259	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs6050261	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6083684	0.88[ASN][1000 genomes]
rs6083685	0.88[ASN][1000 genomes]
rs6083686	0.88[ASN][1000 genomes]
rs6083688	0.88[ASN][1000 genomes]
rs6083692	0.86[ASN][1000 genomes]
rs6083699	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6083709	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6106975	0.86[ASN][1000 genomes]
rs6106984	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114980	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114988	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114992	0.82[ASN][1000 genomes]
rs6132773	0.88[ASN][1000 genomes]
rs6132774	0.88[ASN][1000 genomes]
rs6132775	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132777	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132778	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6132783	0.90[ASN][1000 genomes]
rs6132784	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6132785	0.81[ASN][1000 genomes]
rs6132789	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs6138417	0.88[ASN][1000 genomes]
rs6138423	0.88[ASN][1000 genomes]
rs6138431	0.82[ASN][1000 genomes]
rs6138435	0.88[ASN][1000 genomes]
rs6138437	0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6138438	0.93[ASN][1000 genomes]
rs6138442	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138453	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6138455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138456	0.97[ASN][1000 genomes]
rs6138457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6138458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6138460	0.90[ASN][1000 genomes]
rs6138461	0.87[ASN][1000 genomes]
rs6138463	0.85[ASN][1000 genomes]
rs6138466	0.82[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6138473	0.82[CHD][hapmap];0.86[JPT][hapmap]
rs6138474	0.86[JPT][hapmap]
rs6138475	0.83[CHD][hapmap];0.86[JPT][hapmap]
rs62215110	0.93[ASN][1000 genomes]
rs62215115	0.93[ASN][1000 genomes]
rs62215128	0.97[ASN][1000 genomes]
rs62215131	0.97[ASN][1000 genomes]
rs6707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7268095	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7269416	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735886	0.88[ASN][1000 genomes]
rs8125909	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8183891	0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs914314	0.83[ASN][1000 genomes]
rs926661	0.86[ASN][1000 genomes]
rs926662	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv2762068	chr20:24908860-24974986	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv585745	chr20:24932028-25007089	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6114981	CST9	cis	parietal	SCAN
rs6114981	PYGB	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24972800-24974600	Active TSS	Fetal Brain Female	brain
2	chr20:24973600-24974600	Flanking Active TSS	NHEK	skin
3	chr20:24973800-24974600	Weak transcription	Spleen	Spleen
4	chr20:24973800-24974600	Flanking Active TSS	A549	lung
5	chr20:24973800-24974800	Flanking Active TSS	HepG2	liver
6	chr20:24973800-24975200	Weak transcription	Gastric	stomach
7	chr20:24973800-24975400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:24973800-24975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:24973800-24975800	Weak transcription	Lung	lung
10	chr20:24974000-24974600	Weak transcription	Esophagus	oesophagus
11	chr20:24974000-24974600	Weak transcription	Pancreas	Pancrea
12	chr20:24974000-24974800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr20:24974000-24974800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr20:24974000-24974800	Weak transcription	Colonic Mucosa	Colon
15	chr20:24974000-24974800	Enhancers	Fetal Kidney	kidney
16	chr20:24974000-24974800	Enhancers	Fetal Stomach	stomach
17	chr20:24974000-24974800	Enhancers	HUVEC	blood vessel
18	chr20:24974000-24975000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr20:24974000-24975000	Weak transcription	Left Ventricle	heart
20	chr20:24974000-24975000	Weak transcription	Stomach Mucosa	stomach
21	chr20:24974000-24975200	Weak transcription	Brain Germinal Matrix	brain
22	chr20:24974000-24975200	Weak transcription	Ovary	ovary
23	chr20:24974000-24975200	Weak transcription	Right Ventricle	heart
24	chr20:24974000-24975200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr20:24974000-24975600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr20:24974000-24975600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr20:24974000-24975600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr20:24974000-24975600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr20:24974000-24975800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr20:24974000-24975800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr20:24974000-24975800	Weak transcription	HSMMtube	muscle
32	chr20:24974000-24976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr20:24974000-24976000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr20:24974000-24976200	Enhancers	Primary B cells from peripheral blood	blood
35	chr20:24974000-24976200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr20:24974000-24976200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr20:24974000-24976200	Enhancers	Fetal Intestine Small	intestine
38	chr20:24974000-24976400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr20:24974000-24976400	Enhancers	Fetal Thymus	thymus
40	chr20:24974000-24976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:24974000-24976800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:24974000-24976800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr20:24974000-24977000	Enhancers	Fetal Muscle Leg	muscle
44	chr20:24974000-24977800	Enhancers	Placenta	Placenta
45	chr20:24974000-24979000	Enhancers	Duodenum Mucosa	Duodenum
46	chr20:24974000-24981000	Weak transcription	Psoas Muscle	Psoas
47	chr20:24974000-24985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr20:24974000-24985800	Weak transcription	Thymus	Thymus
49	chr20:24974000-24986400	Weak transcription	Aorta	Aorta
50	chr20:24974200-24974600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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