Variant report

Variant	rs4996699
Chromosome Location	chr4:8545535-8545536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8544571..8547692-chr4:8551879..8553723,3	K562	blood:
2	chr4:8544480..8546948-chr4:8548054..8550987,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10805208	0.82[ASN][1000 genomes]
rs10805209	0.83[ASN][1000 genomes]
rs10938721	0.84[ASN][1000 genomes]
rs10938722	0.83[ASN][1000 genomes]
rs10938723	0.83[ASN][1000 genomes]
rs11723202	0.83[ASN][1000 genomes]
rs11723504	0.81[EUR][1000 genomes]
rs11727986	0.82[AMR][1000 genomes]
rs11732364	0.84[ASN][1000 genomes]
rs11736996	0.83[ASN][1000 genomes]
rs12499116	0.80[EUR][1000 genomes]
rs3103086	0.88[ASN][1000 genomes]
rs3115408	1.00[ASN][1000 genomes]
rs35097287	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35822470	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs36092221	0.81[AMR][1000 genomes]
rs4414938	0.84[ASN][1000 genomes]
rs4561917	0.83[ASN][1000 genomes]
rs62287449	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7668839	0.83[ASN][1000 genomes]
rs7674109	0.82[ASN][1000 genomes]
rs7687248	0.82[ASN][1000 genomes]
rs870095	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv4224	chr4:8503727-8546462	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv461221	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv593640	chr4:8534283-8554894	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
8	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8539400-8546400	Weak transcription	HSMMtube	muscle
2	chr4:8539600-8546400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:8541200-8546000	Weak transcription	HSMM	muscle
4	chr4:8541600-8549000	Weak transcription	HMEC	breast
5	chr4:8541800-8545800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:8542200-8546200	Weak transcription	Osteobl	bone
7	chr4:8542200-8546400	Weak transcription	NHLF	lung
8	chr4:8542200-8548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:8544400-8546600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:8544400-8551600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:8544400-8552600	Enhancers	Placenta	Placenta
12	chr4:8544600-8546000	Enhancers	Esophagus	oesophagus
13	chr4:8544800-8549600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:8544800-8556600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:8545000-8546200	Weak transcription	Spleen	Spleen
16	chr4:8545000-8547200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:8545400-8545800	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links