Variant report

Variant	rs868591
Chromosome Location	chr4:8547218-8547219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8546192..8549127-chr4:8552223..8554914,2	K562	blood:
2	chr4:8544571..8547692-chr4:8551879..8553723,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10805209	0.84[CEU][hapmap]
rs10938721	0.81[EUR][1000 genomes]
rs10938723	0.84[CEU][hapmap]
rs1106707	0.90[ASN][1000 genomes]
rs11723504	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11732364	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs12499116	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13116362	0.92[ASN][1000 genomes]
rs13151782	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs17204393	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115410	0.91[ASN][1000 genomes]
rs34257763	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4414938	0.82[CEU][hapmap];0.81[TSI][hapmap]
rs4449400	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55723892	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56379295	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61570587	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6447879	0.88[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs6813080	0.84[ASN][1000 genomes]
rs73227136	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7377238	0.89[ASN][1000 genomes]
rs7668839	0.81[EUR][1000 genomes]
rs7670005	0.90[ASN][1000 genomes]
rs870095	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs870096	0.90[ASN][1000 genomes]
rs870097	0.90[ASN][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	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	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
4	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
5	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
6	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
7	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8541600-8549000	Weak transcription	HMEC	breast
2	chr4:8542200-8548800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:8544400-8551600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:8544400-8552600	Enhancers	Placenta	Placenta
5	chr4:8544800-8549600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:8544800-8556600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:8545800-8547600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr4:8545800-8547600	Enhancers	NHDF-Ad	bronchial
9	chr4:8546000-8547600	Enhancers	HSMM	muscle
10	chr4:8546200-8547400	Enhancers	Osteobl	bone
11	chr4:8546400-8547400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:8546400-8547400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr4:8546400-8547600	Enhancers	HSMMtube	muscle
14	chr4:8546400-8547600	Enhancers	NHLF	lung
15	chr4:8546600-8547600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:8546600-8547600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:8546600-8550200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:8546800-8551000	Weak transcription	Spleen	Spleen
19	chr4:8547000-8547800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:8547000-8547800	Enhancers	Stomach Mucosa	stomach
21	chr4:8547200-8547600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:8547200-8547600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:8547200-8547800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:8547200-8548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:8547200-8548800	Weak transcription	Muscle Satellite Cultured Cells	--

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