Variant report

Variant	rs11974030
Chromosome Location	chr7:150279532-150279533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1009861	0.84[GIH][hapmap]
rs10952264	1.00[EUR][1000 genomes]
rs11979529	1.00[EUR][1000 genomes]
rs11980799	1.00[EUR][1000 genomes]
rs12665905	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12669961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1317277	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1464755	1.00[CEU][hapmap]
rs59289349	1.00[EUR][1000 genomes]
rs62502275	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6464084	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6949346	1.00[EUR][1000 genomes]
rs6959617	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6964548	1.00[CHB][hapmap];0.92[GIH][hapmap];0.86[MKK][hapmap]
rs73463344	1.00[EUR][1000 genomes]
rs73480194	1.00[EUR][1000 genomes]
rs7788994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808821	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7810366	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][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	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
7	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150269800-150282400	Weak transcription	Right Ventricle	heart
2	chr7:150270200-150281800	Weak transcription	Spleen	Spleen
3	chr7:150277600-150281200	ZNF genes & repeats	Primary T cells from cord blood	blood
4	chr7:150277800-150280200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
5	chr7:150278000-150279600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr7:150278400-150283400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:150278600-150279800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:150278600-150283000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:150278600-150283200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:150278600-150283400	Weak transcription	Primary B cells from cord blood	blood
11	chr7:150278800-150283000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:150279000-150283400	Weak transcription	Liver	Liver
13	chr7:150279400-150280000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr7:150279400-150280600	Enhancers	Right Atrium	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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