Variant report

Variant	rs6957836
Chromosome Location	chr7:27749846-27749847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27747436..27749954-chr7:27752214..27754351,3	K562	blood:
2	chr7:27748144..27751771-chr7:27755375..27758191,3	K562	blood:
3	chr7:27747506..27749954-chr7:27752851..27754917,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10267854	0.81[CHD][hapmap]
rs11763499	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766320	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973028	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs17155666	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17155702	0.87[CHD][hapmap]
rs17611937	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17685046	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2051829	0.93[GIH][hapmap]
rs2108309	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2237337	1.00[CEU][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285930	0.84[CEU][hapmap]
rs2391486	0.89[EUR][1000 genomes]
rs4722739	0.95[GIH][hapmap]
rs55714615	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55738305	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137979	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61538692	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62449631	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62454807	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62454947	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462043	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950949	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958125	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974060	0.94[EUR][1000 genomes]
rs6974991	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7784038	0.81[CHD][hapmap]
rs7808062	0.91[EUR][1000 genomes]
rs960293	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs960294	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9638846	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638847	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9639563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639564	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6957836	SNX10	cis	cerebellum	SCAN
rs6957836	HOXA13	cis	parietal	SCAN
rs6957836	PRR15	cis	parietal	SCAN
rs6957836	CRHR2	cis	parietal	SCAN
rs6957836	TAX1BP1	cis	cerebellum	SCAN
rs6957836	GPX1	trans	cerebellum	SCAN
rs6957836	NPY	cis	cerebellum	SCAN
rs6957836	TRIL	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27748600-27750000	Enhancers	Hela-S3	cervix
2	chr7:27748600-27750000	Enhancers	Osteobl	bone
3	chr7:27748600-27750200	Enhancers	NHDF-Ad	bronchial
4	chr7:27748800-27750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:27748800-27750000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:27748800-27750000	Enhancers	Colon Smooth Muscle	Colon
7	chr7:27748800-27750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:27748800-27750000	Enhancers	NH-A	brain
9	chr7:27749000-27750000	Enhancers	HSMM	muscle
10	chr7:27749000-27750000	Enhancers	HUVEC	blood vessel
11	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:27749000-27750200	Enhancers	K562	blood
14	chr7:27749400-27750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:27749400-27750000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:27749400-27750200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:27749400-27755000	Weak transcription	Small Intestine	intestine
18	chr7:27749600-27754400	Weak transcription	HMEC	breast
19	chr7:27749800-27751200	Weak transcription	HepG2	liver
20	chr7:27749800-27754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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