Variant report

Variant	rs72656285
Chromosome Location	chr4:86676596-86676597
allele	A/G
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:37)

rs_ID	r²[population]
rs1031987	0.88[ASN][1000 genomes]
rs11097072	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11097073	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11097074	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11722392	0.96[ASN][1000 genomes]
rs12054628	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12644984	0.94[ASN][1000 genomes]
rs12647014	1.00[ASN][1000 genomes]
rs12650494	0.88[ASN][1000 genomes]
rs13112493	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482091	0.94[ASN][1000 genomes]
rs1482092	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1482095	0.93[ASN][1000 genomes]
rs17010697	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2624023	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs343848	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs343852	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41477846	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4455406	0.97[ASN][1000 genomes]
rs56989679	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57065351	1.00[ASN][1000 genomes]
rs6531862	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6531863	0.93[ASN][1000 genomes]
rs6819529	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6831420	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6839040	0.94[ASN][1000 genomes]
rs6853196	0.93[ASN][1000 genomes]
rs6855390	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72656252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72656294	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7661884	0.96[ASN][1000 genomes]
rs7674888	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7675688	0.99[ASN][1000 genomes]
rs7680588	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7682971	0.96[ASN][1000 genomes]
rs7685320	0.94[ASN][1000 genomes]
rs7697134	0.91[ASN][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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv526211	chr4:86666893-86677107	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv291712	chr4:86671670-86676799	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv461567	chr4:86673888-86677107	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv594756	chr4:86673888-86677107	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86663400-86699800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:86666000-86682400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:86667600-86678000	Weak transcription	Stomach Mucosa	stomach
4	chr4:86668000-86677800	Weak transcription	Right Atrium	heart
5	chr4:86670400-86683600	Weak transcription	HSMMtube	muscle
6	chr4:86670600-86680400	Weak transcription	HUVEC	blood vessel
7	chr4:86671600-86681800	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:86673000-86679800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:86673400-86680600	Weak transcription	NHDF-Ad	bronchial
10	chr4:86673400-86682400	Weak transcription	Spleen	Spleen
11	chr4:86673400-86683400	Weak transcription	HSMM	muscle
12	chr4:86673600-86677600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:86673600-86681800	Weak transcription	Right Ventricle	heart
14	chr4:86673600-86683800	Weak transcription	Left Ventricle	heart
15	chr4:86674000-86679000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:86674800-86677600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:86674800-86685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:86675600-86676600	Enhancers	Adipose Nuclei	Adipose
19	chr4:86675800-86676600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:86676200-86680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:86676200-86683000	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:86676400-86676600	Enhancers	Brain Anterior Caudate	brain
23	chr4:86676400-86676800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr4:86676400-86676800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr4:86676400-86677800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:86676400-86677800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:86676400-86682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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