Variant report

Variant	rs47
Chromosome Location	chr7:11581121-11581122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10275517	0.89[CEU][hapmap];0.88[JPT][hapmap]
rs11976743	0.82[ASW][hapmap];0.87[MKK][hapmap]
rs15	0.84[CEU][hapmap];0.91[AFR][1000 genomes]
rs1541396	0.86[ASN][1000 genomes]
rs20	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs2354963	1.00[ASW][hapmap];0.84[CEU][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27	0.82[EUR][1000 genomes]
rs31	0.88[JPT][hapmap]
rs33	0.84[CEU][hapmap];0.88[JPT][hapmap]
rs34	0.81[CEU][hapmap];0.86[JPT][hapmap]
rs42	0.85[ASN][1000 genomes]
rs43	0.85[ASN][1000 genomes]
rs44	0.85[ASN][1000 genomes]
rs54	0.85[ASN][1000 genomes]
rs55	0.85[ASN][1000 genomes]
rs58	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs67	0.84[CEU][hapmap]
rs68	0.83[CEU][hapmap]
rs69	0.81[CEU][hapmap]
rs6974688	0.88[JPT][hapmap]
rs70	0.82[CEU][hapmap]
rs7780359	0.84[JPT][hapmap]
rs80	0.84[CEU][hapmap]
rs82	0.82[ASW][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830903	chr7:11384957-11586376	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1028614	chr7:11511684-11596934	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv464366	chr7:11522525-11602899	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv606200	chr7:11522525-11602899	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv887609	chr7:11547284-11581121	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv887610	chr7:11548082-11581121	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11564800-11582200	Weak transcription	A549	lung
2	chr7:11565000-11582200	Weak transcription	Fetal Kidney	kidney
3	chr7:11570400-11592000	Weak transcription	Fetal Brain Male	brain
4	chr7:11575600-11582000	Weak transcription	Fetal Brain Female	brain
5	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
6	chr7:11578000-11581200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:11578200-11581400	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:11578400-11581600	Enhancers	Dnd41	blood
9	chr7:11579800-11581200	Enhancers	NH-A	brain
10	chr7:11580200-11581200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:11580200-11581200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:11580200-11582600	Weak transcription	Liver	Liver
13	chr7:11580200-11583000	Weak transcription	Adipose Nuclei	Adipose
14	chr7:11580400-11581400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:11580600-11581200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:11581000-11581200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:11581000-11581600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:11581000-11582400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:11581000-11582800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:11581000-11582800	Strong transcription	Fetal Lung	lung

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