Variant report

Variant	rs7594990
Chromosome Location	chr2:101201669-101201670
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101199489..101202291-chr2:101618727..101620341,2	K562	blood:
2	chr2:100937517..100939359-chr2:101200058..101201700,2	MCF-7	breast:
3	chr2:101196386..101198737-chr2:101200074..101202571,2	K562	blood:

Variant related genes	Relation type
ENSG00000170500	Chromatin interaction
ENSG00000071082	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11123838	0.93[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs13392981	0.84[ASN][1000 genomes]
rs2970993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35658386	0.89[ASN][1000 genomes]
rs56407824	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57619803	0.91[ASN][1000 genomes]
rs60927663	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62152478	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6705682	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72966916	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7587860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv834312	chr2:101044438-101238166	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7594990	CHST10	cis	cerebellum	SCAN
rs7594990	ASTL	cis	parietal	SCAN
rs7594990	TMEM182	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101183800-101204200	Weak transcription	Hela-S3	cervix
2	chr2:101188600-101204200	Weak transcription	K562	blood
3	chr2:101194800-101206200	Weak transcription	Pancreas	Pancrea
4	chr2:101198200-101204600	Weak transcription	HUVEC	blood vessel
5	chr2:101198200-101204800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:101198400-101204600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:101199200-101204200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:101200200-101202000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:101200800-101201800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:101200800-101202200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:101201000-101202000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:101201200-101201800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:101201200-101201800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:101201200-101202000	Enhancers	Primary T cells from cord blood	blood
15	chr2:101201200-101202000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:101201400-101201800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr2:101201600-101202000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:101201600-101202000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:101201600-101204000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:101201600-101204800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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