Variant report

Variant	rs636491
Chromosome Location	chr11:75430082-75430083
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	NFATC1	chr11:75430029-75430377	GM12878	blood:	n/a	n/a
2	RELA	chr11:75429968-75430440	GM18951	blood:	n/a	chr11:75430268-75430277 chr11:75430268-75430277
3	MYBL2	chr11:75429659-75430586	HepG2	liver:	n/a	n/a
4	HNF4A	chr11:75429890-75431131	HepG2	liver:	n/a	chr11:75430862-75430877 chr11:75430957-75430970 chr11:75430956-75430969 chr11:75430957-75430969 chr11:75430956-75430969
5	POLR2A	chr11:75429764-75430594	HepG2	liver:	n/a	n/a
6	FOXA2	chr11:75429743-75430139	HepG2	liver:	n/a	n/a
7	EP300	chr11:75429922-75431061	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:75429843-75431244	HepG2	liver:	n/a	n/a
9	HEY1	chr11:75429788-75431278	HepG2	liver:	n/a	n/a
10	TEAD4	chr11:75429862-75430353	HepG2	liver:	n/a	n/a
11	RUNX3	chr11:75429827-75430254	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:75429890-75431201	HepG2	liver:	n/a	n/a
13	ATF2	chr11:75429769-75430233	GM12878	blood:	n/a	n/a
14	RUNX3	chr11:75429819-75430398	GM12878	blood:	n/a	n/a
15	MTA3	chr11:75429796-75430411	GM12878	blood:	n/a	n/a
16	NFIC	chr11:75429798-75430353	GM12878	blood:	n/a	n/a
17	RELA	chr11:75429888-75430469	GM18505	blood:	n/a	chr11:75430268-75430277 chr11:75430268-75430277
18	POLR2A	chr11:75429806-75431392	HepG2	liver:	n/a	n/a
19	PML	chr11:75429884-75430319	GM12878	blood:	n/a	n/a
20	RELA	chr11:75429856-75430461	GM12891	blood:	n/a	chr11:75430268-75430277 chr11:75430268-75430277
21	NFIC	chr11:75429735-75430096	HepG2	liver:	n/a	n/a
22	JUND	chr11:75429883-75430183	HepG2	liver:	n/a	n/a
23	RELA	chr11:75429839-75430441	GM19099	blood:	n/a	chr11:75430268-75430277 chr11:75430268-75430277
24	MYBL2	chr11:75429417-75430240	HepG2	liver:	n/a	n/a
25	FOXA1	chr11:75429710-75430203	HepG2	liver:	n/a	n/a
26	SP1	chr11:75429674-75430230	HepG2	liver:	n/a	n/a
27	FOXA1	chr11:75429718-75430151	HepG2	liver:	n/a	n/a
28	FOXA1	chr11:75429698-75430234	HepG2	liver:	n/a	n/a
29	MAX	chr11:75429715-75431312	HepG2	liver:	n/a	chr11:75431285-75431294

Variant related genes	Relation type
MOGAT2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2508390	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2510630	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2510633	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs509530	1.00[CEU][hapmap];0.88[CHD][hapmap];0.83[MEX][hapmap];1.00[EUR][1000 genomes]
rs534299	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs555939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs624580	0.92[EUR][1000 genomes]
rs624636	0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs631058	1.00[CEU][hapmap];0.80[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648618	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs653229	1.00[CEU][hapmap];0.85[CHD][hapmap];0.83[MEX][hapmap];1.00[EUR][1000 genomes]
rs695155	1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75428200-75431200	Enhancers	Gastric	stomach
2	chr11:75428600-75430200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:75428600-75430600	Active TSS	Duodenum Mucosa	Duodenum
4	chr11:75428600-75431000	Enhancers	Stomach Mucosa	stomach
5	chr11:75428800-75430200	Enhancers	Right Ventricle	heart
6	chr11:75428800-75430400	Enhancers	Adipose Nuclei	Adipose
7	chr11:75428800-75431000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:75428800-75431000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:75428800-75431200	Enhancers	Left Ventricle	heart
10	chr11:75428800-75431200	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:75429000-75430200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:75429000-75430400	Enhancers	Fetal Heart	heart
13	chr11:75429000-75431600	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr11:75429000-75431600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr11:75429400-75430600	Enhancers	GM12878-XiMat	blood
16	chr11:75429400-75430800	Flanking Active TSS	HepG2	liver
17	chr11:75429600-75431400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr11:75429600-75432400	Flanking Active TSS	Liver	Liver
19	chr11:75429600-75432800	Weak transcription	Spleen	Spleen
20	chr11:75429600-75439600	Weak transcription	Fetal Stomach	stomach
21	chr11:75429800-75436800	Weak transcription	Right Atrium	heart
22	chr11:75430000-75430200	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr11:75430000-75430600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr11:75430000-75430600	Active TSS	Colonic Mucosa	Colon

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