Variant report

Variant	rs4662371
Chromosome Location	chr2:145014060-145014061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145005647..145008426-chr2:145012294..145015158,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11886379	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11891991	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs13383608	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs16823604	1.00[ASW][hapmap]
rs28634943	0.87[EUR][1000 genomes]
rs62167042	1.00[ASN][1000 genomes]
rs62167056	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62169160	0.82[AMR][1000 genomes]
rs62169161	1.00[ASN][1000 genomes]
rs62169162	0.82[AMR][1000 genomes]
rs62169164	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169174	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62169185	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62169186	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169187	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62169189	0.87[EUR][1000 genomes]
rs62169191	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62169192	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62169194	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6716723	1.00[ASW][hapmap]
rs6722360	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7588281	0.87[EUR][1000 genomes]
rs997840	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
12	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr2:145008600-145025800	Weak transcription	Ovary	ovary
2	chr2:145011000-145014600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:145012400-145014200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:145012400-145019600	Weak transcription	Aorta	Aorta
5	chr2:145012600-145014200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:145012600-145014200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:145012600-145014200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:145012600-145014800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:145012600-145016000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:145012800-145015200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:145012800-145016800	Weak transcription	Fetal Brain Male	brain
12	chr2:145013000-145014400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:145013200-145014800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:145013400-145014200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:145013400-145023200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:145014000-145014800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:145014000-145015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:145014000-145015200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:145014000-145015200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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