Variant report

Variant	rs7697134
Chromosome Location	chr4:86647075-86647076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86636846..86639460-chr4:86646994..86650013,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1031987	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11722392	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11731040	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12644984	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12646641	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647014	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12648692	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12650494	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13112493	0.91[ASN][1000 genomes]
rs13123125	0.83[AMR][1000 genomes]
rs1482091	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1482092	0.97[ASN][1000 genomes]
rs1482095	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17010599	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17010697	0.96[ASN][1000 genomes]
rs17010839	0.84[AMR][1000 genomes]
rs1811576	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2624023	0.97[ASN][1000 genomes]
rs343848	0.95[ASN][1000 genomes]
rs343852	0.96[ASN][1000 genomes]
rs41477846	0.98[ASN][1000 genomes]
rs4455406	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56989679	0.88[ASN][1000 genomes]
rs57065351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6531862	0.99[ASN][1000 genomes]
rs6531863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6839040	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6853196	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6855390	0.96[ASN][1000 genomes]
rs72656252	0.99[ASN][1000 genomes]
rs72656285	0.91[ASN][1000 genomes]
rs7661884	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7675688	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7682971	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7685320	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86644000-86650200	Enhancers	NHDF-Ad	bronchial
2	chr4:86644800-86647800	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:86645000-86647800	Enhancers	Brain Anterior Caudate	brain
4	chr4:86645000-86648200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:86645000-86650200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:86645800-86647600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:86645800-86648000	Enhancers	Liver	Liver
8	chr4:86646000-86647400	Enhancers	A549	lung
9	chr4:86646000-86647800	Enhancers	HSMM	muscle
10	chr4:86646000-86647800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr4:86646000-86648000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:86646000-86649000	Enhancers	Primary B cells from peripheral blood	blood
13	chr4:86646200-86647400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:86646200-86647600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:86646200-86647600	Enhancers	Fetal Lung	lung
16	chr4:86646200-86647800	Enhancers	Brain Hippocampus Middle	brain
17	chr4:86646200-86648200	Enhancers	Adipose Nuclei	Adipose
18	chr4:86646400-86647200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:86646400-86647400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:86646400-86647400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:86646400-86647600	Flanking Active TSS	GM12878-XiMat	blood
22	chr4:86646400-86647600	Enhancers	HSMMtube	muscle
23	chr4:86646400-86647800	Enhancers	Colon Smooth Muscle	Colon
24	chr4:86646400-86648000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:86646400-86648200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:86646400-86648400	Enhancers	Fetal Muscle Leg	muscle
27	chr4:86646400-86649000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:86646600-86647400	Enhancers	Fetal Heart	heart
29	chr4:86646600-86647400	Enhancers	Fetal Intestine Small	intestine
30	chr4:86646600-86647400	Enhancers	Osteobl	bone
31	chr4:86646600-86647600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:86646600-86647800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:86646600-86647800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:86646600-86647800	Enhancers	Gastric	stomach
35	chr4:86646600-86647800	Enhancers	Left Ventricle	heart
36	chr4:86646600-86647800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:86646600-86647800	Enhancers	Small Intestine	intestine
38	chr4:86646600-86647800	Enhancers	Spleen	Spleen
39	chr4:86646600-86648000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr4:86646600-86648000	Enhancers	Primary hematopoietic stem cells	blood
41	chr4:86646600-86648400	Enhancers	Pancreas	Pancrea
42	chr4:86646600-86648400	Enhancers	Right Atrium	heart
43	chr4:86646800-86647200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:86646800-86647200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:86646800-86647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:86646800-86647200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:86646800-86647200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:86646800-86647200	Enhancers	Ovary	ovary
49	chr4:86646800-86647400	Enhancers	Stomach Mucosa	stomach
50	chr4:86646800-86647600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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