Variant report

Variant	rs6965592
Chromosome Location	chr7:120822559-120822560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120819870..120822812-chr7:120840045..120842182,2	K562	blood:
2	chr7:120814118..120818051-chr7:120821660..120824436,5	K562	blood:
3	chr7:120820743..120822787-chr7:120829195..120831217,2	K562	blood:
4	chr7:120821041..120822740-chr7:120822872..120826535,3	K562	blood:
5	chr7:120821316..120823107-chr7:121035788..121037547,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10225539	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10226602	0.91[EUR][1000 genomes]
rs10229198	1.00[CEU][hapmap]
rs10230185	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs10230310	1.00[CEU][hapmap]
rs10232353	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10235191	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10244109	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10251982	0.91[EUR][1000 genomes]
rs10252157	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs10259598	1.00[CEU][hapmap]
rs10260002	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs10260631	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10264879	0.91[EUR][1000 genomes]
rs10274123	0.91[EUR][1000 genomes]
rs10274324	1.00[CEU][hapmap]
rs10277559	0.87[EUR][1000 genomes]
rs10279122	1.00[CEU][hapmap]
rs13438127	1.00[CEU][hapmap]
rs2691032	1.00[CEU][hapmap]
rs28476487	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28477952	0.82[EUR][1000 genomes]
rs28532880	0.91[EUR][1000 genomes]
rs28624478	1.00[EUR][1000 genomes]
rs28695392	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59353128	0.83[EUR][1000 genomes]
rs60326700	0.87[EUR][1000 genomes]
rs61327650	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6944198	1.00[YRI][hapmap]
rs6951173	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs6971452	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73433957	0.87[EUR][1000 genomes]
rs7779605	0.83[EUR][1000 genomes]
rs7790700	0.91[EUR][1000 genomes]
rs7808138	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap]
rs798913	1.00[CEU][hapmap]
rs798915	1.00[CEU][hapmap]
rs798917	1.00[CEU][hapmap]
rs798918	1.00[CEU][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	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
2	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
3	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:120819000-120822600	Weak transcription	Aorta	Aorta
6	chr7:120819200-120822600	Weak transcription	HSMM	muscle
7	chr7:120819200-120861000	Strong transcription	K562	blood
8	chr7:120819400-120831600	Weak transcription	Psoas Muscle	Psoas
9	chr7:120819800-120822600	Weak transcription	NHLF	lung
10	chr7:120821000-120825000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:120821200-120826000	Enhancers	Primary B cells from cord blood	blood
12	chr7:120822000-120827000	Weak transcription	GM12878-XiMat	blood
13	chr7:120822400-120823000	Enhancers	Ovary	ovary
14	chr7:120822400-120823000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:120822400-120823000	Enhancers	HSMMtube	muscle
16	chr7:120822400-120823400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:120822400-120823400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:120822400-120823400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:120822400-120823400	Enhancers	NHDF-Ad	bronchial

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