Variant report

Variant	rs10261256
Chromosome Location	chr7:6409818-6409819
allele	A/G
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	POLR2A	chr7:6409734-6411789	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6407358..6411182-chr7:6412675..6416929,4	K562	blood:
2	chr7:6408313..6409948-chr7:6425652..6428069,2	MCF-7	breast:

Variant related genes	Relation type
RAC1	TF binding region
ENSG00000136238	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10266716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10951982	0.85[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10951983	0.94[MEX][hapmap]
rs11514801	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11514802	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11514804	0.84[ASN][1000 genomes]
rs11763354	0.85[ASN][1000 genomes]
rs12537894	0.95[CHB][hapmap];0.92[CHD][hapmap];0.88[MEX][hapmap]
rs12538142	0.94[CHB][hapmap]
rs13229636	0.81[AMR][1000 genomes]
rs13244632	0.81[CHB][hapmap];0.82[TSI][hapmap]
rs17196595	0.84[ASN][1000 genomes]
rs1880118	0.89[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap]
rs2303361	0.89[CHB][hapmap];0.92[CHD][hapmap];0.94[MEX][hapmap]
rs2347339	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs33986648	0.85[ASN][1000 genomes]
rs33999234	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34106847	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34414425	0.83[ASN][1000 genomes]
rs34884077	0.85[ASN][1000 genomes]
rs35733871	0.85[ASN][1000 genomes]
rs3729790	0.89[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs3750038	0.95[CHB][hapmap];0.92[CHD][hapmap];0.88[MEX][hapmap]
rs3828944	0.80[CHD][hapmap];0.94[MEX][hapmap]
rs4720669	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4724800	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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4724801	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71531381	0.82[ASN][1000 genomes]
rs71531384	0.85[ASN][1000 genomes]
rs7455288	0.84[ASN][1000 genomes]
rs7456834	0.95[CHB][hapmap];0.84[ASN][1000 genomes]
rs9374	0.85[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv1025381	chr7:6356704-6409818	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv605999	chr7:6396719-6472881	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10261256	LOC221955	cis	multi-tissue	Pritchard
rs10261256	C7orf26	cis	parietal	SCAN
rs10261256	AIMP2	cis	cerebellum	SCAN
rs10261256	MGC12966	cis	multi-tissue	Pritchard
rs10261256	DAGLB	cis	Whole Blood	GTEx
rs10261256	DAGLB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6407600-6412800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:6407800-6413600	Weak transcription	HUVEC	blood vessel
3	chr7:6408000-6412200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr7:6408000-6412600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:6408000-6412600	Weak transcription	GM12878-XiMat	blood
6	chr7:6408000-6413400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:6408200-6412200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr7:6408200-6412200	Weak transcription	K562	blood
9	chr7:6408200-6412400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr7:6408200-6412600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:6408200-6412800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:6408200-6412800	Weak transcription	Placenta	Placenta
13	chr7:6408200-6413200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:6408200-6413400	Weak transcription	Fetal Intestine Large	intestine
15	chr7:6408400-6413200	Weak transcription	Fetal Intestine Small	intestine
16	chr7:6409800-6413600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:6409800-6414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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