Variant report

Variant	rs694907
Chromosome Location	chr11:64738070-64738071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64716620..64718841-chr11:64735458..64738436,2	K562	blood:
2	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
3	chr11:64717890..64720243-chr11:64735642..64738070,2	MCF-7	breast:
4	chr11:64736057..64738155-chr11:64877720..64880026,2	K562	blood:
5	chr11:64690400..64693254-chr11:64737120..64738862,2	K562	blood:

Variant related genes	Relation type
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000068971	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10792454	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11231912	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1152642	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1196617	0.94[ASN][1000 genomes]
rs1196618	0.94[ASN][1000 genomes]
rs1196903	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12226283	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs183578	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183579	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240568	0.95[ASN][1000 genomes]
rs240569	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs240570	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2670909	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471772	0.90[ASN][1000 genomes]
rs495330	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs528941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532508	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551292	0.92[ASN][1000 genomes]
rs57751380	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs582378	0.90[ASN][1000 genomes]
rs582580	0.91[ASN][1000 genomes]
rs586616	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs587835	0.97[ASN][1000 genomes]
rs589351	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596321	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs600868	0.90[ASN][1000 genomes]
rs602404	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610208	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs615709	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs616124	0.89[ASN][1000 genomes]
rs616341	1.00[ASN][1000 genomes]
rs61893590	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs650506	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs654772	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659122	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660165	0.90[ASN][1000 genomes]
rs664226	0.90[ASN][1000 genomes]
rs670524	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs674981	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688368	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
3	nsv976460	chr11:64727780-64743097	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64730200-64738400	Weak transcription	Stomach Mucosa	stomach
2	chr11:64735200-64739000	Weak transcription	GM12878-XiMat	blood
3	chr11:64736000-64739000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64736200-64738400	Enhancers	NHEK	skin
5	chr11:64736200-64739000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:64736400-64739200	Enhancers	HMEC	breast
7	chr11:64737200-64738800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:64737200-64739000	Weak transcription	Fetal Brain Male	brain
9	chr11:64737400-64738200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:64737400-64739000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:64737400-64739000	Weak transcription	Colonic Mucosa	Colon
12	chr11:64737400-64739000	Weak transcription	NH-A	brain
13	chr11:64737400-64739200	Weak transcription	Placenta	Placenta
14	chr11:64737600-64738400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:64737800-64738200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:64737800-64738400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:64737800-64739000	Weak transcription	Esophagus	oesophagus
18	chr11:64738000-64738200	Enhancers	Hela-S3	cervix
19	chr11:64738000-64739000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:64738000-64739200	Enhancers	HUVEC	blood vessel

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