Variant report

Variant	rs2357076
Chromosome Location	chr4:147270923-147270924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10012766	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11736003	0.85[AFR][1000 genomes]
rs11939345	0.84[AFR][1000 genomes]
rs13138596	0.82[CEU][hapmap]
rs13143634	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs13145434	0.85[CEU][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13145931	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13147293	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13147524	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs17021396	0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs17021447	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1905958	0.89[CEU][hapmap];0.83[JPT][hapmap]
rs2356820	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2356940	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs36058995	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3849034	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4835033	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs4835296	0.81[AFR][1000 genomes]
rs4835297	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs6537407	0.89[CEU][hapmap]
rs6828612	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846294	0.87[AFR][1000 genomes]
rs9991483	0.82[CEU][hapmap];0.85[CHB][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr4:147270200-147271000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:147270600-147271600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:147270800-147271000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:147270800-147271200	Active TSS	NHEK	skin
6	chr4:147270800-147271600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:147270800-147271600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:147270800-147271600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:147270800-147271600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:147270800-147271600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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