Variant report

Variant	rs4130477
Chromosome Location	chr7:104420222-104420223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
2	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
3	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10242238	1.00[JPT][hapmap]
rs10245966	1.00[JPT][hapmap]
rs10265185	1.00[JPT][hapmap]
rs10275240	1.00[JPT][hapmap]
rs10277884	1.00[JPT][hapmap]
rs11760660	1.00[JPT][hapmap]
rs11766478	1.00[JPT][hapmap]
rs11770573	1.00[JPT][hapmap]
rs13221774	0.93[MEX][hapmap]
rs13438590	1.00[JPT][hapmap]
rs17421950	1.00[JPT][hapmap]
rs17490468	1.00[JPT][hapmap]
rs17490509	1.00[JPT][hapmap]
rs17490551	1.00[JPT][hapmap]
rs17490586	1.00[JPT][hapmap]
rs1990704	1.00[JPT][hapmap]
rs2193204	1.00[JPT][hapmap]
rs2891725	1.00[JPT][hapmap]
rs2891729	1.00[JPT][hapmap]
rs4236571	1.00[JPT][hapmap]
rs4524726	1.00[CHD][hapmap];0.93[MEX][hapmap]
rs4620217	1.00[JPT][hapmap]
rs6950059	1.00[JPT][hapmap]
rs6964099	1.00[JPT][hapmap]
rs7791120	1.00[JPT][hapmap]
rs7801040	1.00[JPT][hapmap]
rs962648	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429790	chr7:104314049-104488049	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv429792	chr7:104400049-104488049	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5887	chr7:104401250-104491604	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1030875	chr7:104409391-104472647	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1028479	chr7:104409391-104479087	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv528392	chr7:104411273-104466675	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv522743	chr7:104411273-104486707	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104413800-104424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:104417400-104422600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:104420000-104420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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