Variant report

Variant	rs2964388
Chromosome Location	chr5:5278954-5278955
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10041908	1.00[ASN][1000 genomes]
rs10044817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13178178	1.00[CEU][hapmap]
rs1560066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875272	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16875291	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5263800-5279000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5265200-5282600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:5268800-5279200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:5271800-5291400	Weak transcription	Ovary	ovary
5	chr5:5272000-5283600	Weak transcription	Fetal Kidney	kidney
6	chr5:5272200-5279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:5272400-5279200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:5272400-5298400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:5273200-5279200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:5273200-5281000	Weak transcription	NH-A	brain
11	chr5:5273200-5283200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:5273400-5279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:5273600-5283400	Weak transcription	Pancreas	Pancrea
14	chr5:5277000-5279000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:5277000-5291400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:5277600-5279000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:5277600-5279200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:5277600-5279200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:5277800-5279400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr5:5278200-5279800	Enhancers	A549	lung
21	chr5:5278600-5279800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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