Variant report

Variant	rs11980799
Chromosome Location	chr7:150221738-150221739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150221183..150223870-chr7:150226440..150228746,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10952264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974030	1.00[EUR][1000 genomes]
rs11979529	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11982681	0.87[AFR][1000 genomes]
rs12669961	1.00[EUR][1000 genomes]
rs12672072	0.87[AFR][1000 genomes]
rs12703078	0.83[AFR][1000 genomes]
rs1317277	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240941	0.89[AFR][1000 genomes]
rs1916003	0.83[AFR][1000 genomes]
rs2293173	1.00[ASN][1000 genomes]
rs34514106	0.85[AFR][1000 genomes]
rs35133885	0.80[AFR][1000 genomes]
rs35672177	0.85[AFR][1000 genomes]
rs36021964	0.82[AFR][1000 genomes]
rs59289349	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62502275	1.00[EUR][1000 genomes]
rs62503177	0.83[AFR][1000 genomes]
rs6464084	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949346	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949485	0.83[AFR][1000 genomes]
rs6959617	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73463344	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73471360	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73480194	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73727313	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7782113	0.87[AFR][1000 genomes]
rs7788994	1.00[EUR][1000 genomes]
rs7802853	0.87[AFR][1000 genomes]
rs7803234	0.87[AFR][1000 genomes]
rs7808821	1.00[EUR][1000 genomes]
rs7809438	0.87[AFR][1000 genomes]
rs7810366	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1031309	chr7:150171651-150222230	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150219200-150222400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
2	chr7:150219800-150222400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr7:150220200-150222800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr7:150221000-150222200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
5	chr7:150221200-150221800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
6	chr7:150221200-150222200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:150221200-150222400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
8	chr7:150221200-150223000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr7:150221400-150223200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:150221600-150222000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr7:150221600-150223400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:150221600-150224600	Weak transcription	H1 Cell Line	embryonic stem cell

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