Variant report

Variant	rs971965
Chromosome Location	chr5:61561921-61561922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61539663..61541258-chr5:61560288..61563274,2	K562	blood:
2	chr5:61550007..61554674-chr5:61558868..61565665,10	K562	blood:
3	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
4	chr5:61561722..61564557-chr5:61699479..61701538,2	K562	blood:
5	chr5:61561395..61563266-chr5:61628626..61630582,2	K562	blood:
6	chr5:61560033..61563867-chr5:61600448..61603571,4	K562	blood:
7	chr5:61560127..61563609-chr5:61600323..61607787,9	K562	blood:
8	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
9	chr5:61561863..61563479-chr5:61638036..61640734,2	K562	blood:
10	chr5:61560127..61563309-chr5:61603579..61607776,4	K562	blood:
11	chr5:61561179..61563178-chr5:61595838..61598010,2	K562	blood:
12	chr5:61539494..61542163-chr5:61560247..61562435,2	K562	blood:
13	chr5:61561783..61565148-chr5:61601604..61603284,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000086200	Chromatin interaction
ENSG00000086189	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1108158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11740652	0.83[ASN][1000 genomes]
rs11742167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11750109	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12655562	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13155253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13156073	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs13156695	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13161789	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13162519	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13162821	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13169321	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13170425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174779	0.83[ASN][1000 genomes]
rs13176923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13178729	0.87[AMR][1000 genomes]
rs13181377	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13189446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs153860	0.90[CHB][hapmap]
rs153864	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]
rs153866	0.90[CHB][hapmap]
rs153869	0.90[CHB][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs153873	0.90[CHB][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs16875037	0.83[ASN][1000 genomes]
rs16890613	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16890618	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16890628	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16890634	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16890651	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16898838	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2059162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272291	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap]
rs2441115	0.90[CHB][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs27090	0.90[CHB][hapmap];1.00[GIH][hapmap];0.82[TSI][hapmap]
rs34220654	0.83[ASN][1000 genomes]
rs34596001	0.83[ASN][1000 genomes]
rs35011	0.89[CHB][hapmap]
rs35012	0.88[CHB][hapmap]
rs35058	0.90[CHB][hapmap]
rs35238667	0.83[ASN][1000 genomes]
rs35311093	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35572300	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35672643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35699711	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35744020	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35746052	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35794032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35808056	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35842742	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36105063	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3776612	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3776614	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3822487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4289514	0.83[ASN][1000 genomes]
rs71617425	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71617426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71617427	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71617428	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7446543	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs814169	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61557800-61563400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr5:61558400-61564200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr5:61560800-61564400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:61561000-61562600	Enhancers	Brain Germinal Matrix	brain
5	chr5:61561200-61562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:61561400-61563400	Enhancers	K562	blood
7	chr5:61561600-61564400	Weak transcription	Primary hematopoietic stem cells	blood

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