Variant report

Variant	rs10013662
Chromosome Location	chr4:1157140-1157141
allele	C/T
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	EP300	chr4:1157021-1157448	GM12878	blood:	n/a	n/a
2	MEF2A	chr4:1156977-1157509	GM12878	blood:	n/a	n/a
3	EGR1	chr4:1157019-1157340	K562	blood:	n/a	chr4:1157137-1157151
4	BATF	chr4:1157006-1157255	GM12878	blood:	n/a	n/a
5	EP300	chr4:1156994-1157346	GM12878	blood:	n/a	n/a
6	SP1	chr4:1156974-1157263	GM12878	blood:	n/a	n/a
7	MEF2C	chr4:1156966-1157423	GM12878	blood:	n/a	chr4:1157206-1157221
8	BCL11A	chr4:1157015-1157327	GM12878	blood:	n/a	n/a
9	SPI1	chr4:1157070-1157253	GM12878	blood:	n/a	n/a
10	RUNX3	chr4:1157032-1157304	GM12878	blood:	n/a	n/a
11	IRF4	chr4:1156978-1157385	GM12878	blood:	n/a	n/a
12	IRF1	chr4:1156972-1157555	K562	blood:	n/a	n/a
13	REST	chr4:1157002-1157260	Hela-S3	cervix:	n/a	n/a
14	POU2F2	chr4:1156968-1157252	GM12891	blood:	n/a	n/a
15	SPI1	chr4:1156748-1157620	GM12878	blood:	n/a	n/a
16	MEF2A	chr4:1156965-1157406	GM12878	blood:	n/a	n/a
17	POU2F2	chr4:1156967-1157371	GM12878	blood:	n/a	n/a
18	EGR1	chr4:1157014-1157312	K562	blood:	n/a	chr4:1157137-1157151
19	EGR1	chr4:1157066-1157212	GM12878	blood:	n/a	chr4:1157137-1157151
20	SPI1	chr4:1156878-1157283	GM12891	blood:	n/a	n/a
21	SPI1	chr4:1157032-1157294	GM12878	blood:	n/a	n/a
22	SPI1	chr4:1156980-1157578	GM12891	blood:	n/a	n/a
23	EBF1	chr4:1157137-1157280	GM12878	blood:	n/a	n/a
24	EGR1	chr4:1157065-1157216	GM12878	blood:	n/a	chr4:1157137-1157151
25	RUNX3	chr4:1157019-1157331	GM12878	blood:	n/a	n/a
26	TBP	chr4:1157008-1157167	K562	blood:	n/a	n/a
27	IRF4	chr4:1156876-1157357	GM12878	blood:	n/a	n/a
28	BCLAF1	chr4:1157005-1157448	GM12878	blood:	n/a	n/a
29	ATF2	chr4:1156933-1157407	GM12878	blood:	n/a	n/a
30	STAT3	chr4:1157101-1157557	GM12878	blood:	n/a	n/a
31	POU2F2	chr4:1157068-1157223	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1156903..1159382-chr4:1165380..1166976,2	K562	blood:
2	chr4:1123569..1125967-chr4:1156643..1158968,2	K562	blood:

Variant related genes	Relation type
ENSG00000273179	TF binding region
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11931513	1.00[EUR][1000 genomes]
rs11932895	1.00[EUR][1000 genomes]
rs1250087	1.00[MEX][hapmap]
rs1272043	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs13115935	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1383658	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1383659	0.94[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1481168	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1680075	1.00[EUR][1000 genomes]
rs1680082	1.00[EUR][1000 genomes]
rs17164618	1.00[EUR][1000 genomes]
rs1732105	1.00[EUR][1000 genomes]
rs1871758	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2127911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28750743	0.89[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap]
rs34082974	1.00[EUR][1000 genomes]
rs4246689	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4336168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4465987	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974567	1.00[ASW][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974580	1.00[EUR][1000 genomes]
rs4974581	1.00[EUR][1000 genomes]
rs4974634	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974635	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4974636	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4974645	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs57461362	1.00[EUR][1000 genomes]
rs59318613	1.00[EUR][1000 genomes]
rs59669372	1.00[EUR][1000 genomes]
rs60410862	1.00[EUR][1000 genomes]
rs6818213	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6834402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6835204	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6836809	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6836952	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73069991	1.00[EUR][1000 genomes]
rs73069994	1.00[EUR][1000 genomes]
rs73071910	1.00[EUR][1000 genomes]
rs73071925	1.00[EUR][1000 genomes]
rs73073722	1.00[EUR][1000 genomes]
rs73073725	1.00[EUR][1000 genomes]
rs73073727	1.00[EUR][1000 genomes]
rs73073729	1.00[EUR][1000 genomes]
rs73796061	1.00[EUR][1000 genomes]
rs7660109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7676912	1.00[ASW][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7691582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922697	1.00[ASW][hapmap];1.00[LWK][hapmap];0.98[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]
rs9997694	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
14	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
15	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1146600-1160800	Weak transcription	Ovary	ovary
2	chr4:1149200-1161000	Weak transcription	Right Atrium	heart
3	chr4:1149600-1160800	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:1149600-1161000	Weak transcription	Gastric	stomach
5	chr4:1151200-1157800	Weak transcription	Pancreas	Pancrea
6	chr4:1155600-1160400	Weak transcription	Colonic Mucosa	Colon
7	chr4:1156200-1158400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr4:1156200-1158800	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:1156600-1158000	Enhancers	Primary B cells from cord blood	blood
10	chr4:1156600-1160400	Weak transcription	Liver	Liver
11	chr4:1156600-1160800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:1157000-1158000	Enhancers	K562	blood
13	chr4:1157000-1158000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr4:1157000-1158800	ZNF genes & repeats	GM12878-XiMat	blood

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