Variant report

Variant	rs56305627
Chromosome Location	chr4:147359566-147359567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10000604	0.80[EUR][1000 genomes]
rs10020390	0.82[EUR][1000 genomes]
rs10031151	0.80[EUR][1000 genomes]
rs10032409	0.80[EUR][1000 genomes]
rs11100924	0.80[EUR][1000 genomes]
rs11725876	0.80[EUR][1000 genomes]
rs11733337	0.92[AFR][1000 genomes]
rs11737379	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11930791	0.80[EUR][1000 genomes]
rs11944863	0.82[ASN][1000 genomes]
rs1344140	0.95[AFR][1000 genomes]
rs1574454	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17021440	0.80[EUR][1000 genomes]
rs2630295	0.80[EUR][1000 genomes]
rs2630305	0.80[EUR][1000 genomes]
rs2679141	0.80[EUR][1000 genomes]
rs2679156	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679157	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2679158	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2679159	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2679161	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3849035	0.80[EUR][1000 genomes]
rs3849036	0.90[AFR][1000 genomes]
rs3849038	0.88[ASN][1000 genomes]
rs4835036	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4835038	0.90[AFR][1000 genomes]
rs4835304	0.80[EUR][1000 genomes]
rs4835306	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55844140	0.80[EUR][1000 genomes]
rs55971059	0.82[ASN][1000 genomes]
rs66989520	0.96[ASN][1000 genomes]
rs68027160	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6826676	0.80[EUR][1000 genomes]
rs6843145	0.80[EUR][1000 genomes]
rs6858794	0.81[EUR][1000 genomes]
rs72729852	0.80[EUR][1000 genomes]
rs72729902	0.81[ASN][1000 genomes]
rs7663212	0.90[AFR][1000 genomes]

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	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	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
4	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
5	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
6	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
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147346200-147371400	Weak transcription	Primary B cells from cord blood	blood
2	chr4:147353800-147371000	Weak transcription	GM12878-XiMat	blood
3	chr4:147356600-147361000	Enhancers	NHDF-Ad	bronchial
4	chr4:147357200-147360200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:147357600-147360000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:147357600-147360000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:147357800-147359800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:147358000-147364400	Weak transcription	NHLF	lung
9	chr4:147358400-147363600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:147358400-147366800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:147358600-147361800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:147358800-147361000	Enhancers	HUVEC	blood vessel
13	chr4:147359200-147360200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147359400-147359800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:147359400-147359800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:147359400-147359800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:147359400-147359800	Active TSS	Aorta	Aorta
18	chr4:147359400-147363800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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