Variant report

Variant	rs2017472
Chromosome Location	chr4:55537014-55537015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12503461	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13135792	0.81[GIH][hapmap]
rs2237026	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2237028	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3819387	0.90[GIH][hapmap]
rs3819389	0.90[GIH][hapmap]
rs6820303	0.92[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.81[AMR][1000 genomes]
rs759083	0.88[GIH][hapmap];0.80[MEX][hapmap]
rs7663318	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7684000	0.80[CEU][hapmap]

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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2017472	SRD5A3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55525800-55537200	Weak transcription	Right Atrium	heart
2	chr4:55534400-55537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:55534400-55542000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:55535000-55541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:55535000-55544800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:55535200-55537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:55535200-55537800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:55535600-55541600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:55536000-55541600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:55536200-55539600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:55536200-55541800	Weak transcription	Fetal Brain Male	brain
12	chr4:55536200-55542000	Weak transcription	Lung	lung
13	chr4:55536400-55541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:55536400-55541400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:55536400-55541800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:55536400-55542000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:55536400-55542000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:55536600-55540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:55537000-55537600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:55537000-55541400	Weak transcription	Primary hematopoietic stem cells	blood

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