Variant report

Variant	rs2705629
Chromosome Location	chr4:87825793-87825794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10011798	0.99[EUR][1000 genomes]
rs10015121	0.99[EUR][1000 genomes]
rs10021020	0.97[EUR][1000 genomes]
rs10034336	0.98[EUR][1000 genomes]
rs11097123	0.88[EUR][1000 genomes]
rs11097125	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12503045	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12507165	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12641570	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13120981	0.97[EUR][1000 genomes]
rs1374935	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1868244	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012345	0.95[ASN][1000 genomes]
rs2121871	0.97[EUR][1000 genomes]
rs2594274	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2594283	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28446826	0.86[EUR][1000 genomes]
rs2904148	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2904150	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35428486	0.96[EUR][1000 genomes]
rs4235082	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55889191	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56062410	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67758970	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6823051	0.98[EUR][1000 genomes]
rs6843070	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6846822	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1013308	chr4:87769694-87870168	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv508297	chr4:87778783-87868508	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87814200-87829400	Weak transcription	K562	blood
2	chr4:87814600-87830000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:87822400-87829800	Weak transcription	Placenta	Placenta
4	chr4:87825000-87825800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr4:87825000-87825800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:87825000-87825800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:87825000-87825800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr4:87825000-87825800	Active TSS	Primary B cells from cord blood	blood
9	chr4:87825000-87825800	Active TSS	Primary T cells from cord blood	blood
10	chr4:87825000-87825800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:87825000-87825800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:87825000-87825800	Active TSS	Brain Angular Gyrus	brain
13	chr4:87825000-87825800	Active TSS	Brain Anterior Caudate	brain
14	chr4:87825000-87825800	Active TSS	Brain Cingulate Gyrus	brain
15	chr4:87825000-87825800	Active TSS	Brain Hippocampus Middle	brain
16	chr4:87825000-87825800	Active TSS	Brain Substantia Nigra	brain
17	chr4:87825000-87825800	Active TSS	Colon Smooth Muscle	Colon
18	chr4:87825000-87825800	Active TSS	Duodenum Mucosa	Duodenum
19	chr4:87825000-87825800	Active TSS	Esophagus	oesophagus
20	chr4:87825000-87825800	Active TSS	Fetal Intestine Small	intestine
21	chr4:87825000-87825800	Active TSS	Fetal Kidney	kidney
22	chr4:87825000-87825800	Active TSS	Fetal Lung	lung
23	chr4:87825000-87825800	Active TSS	Ovary	ovary
24	chr4:87825000-87825800	Active TSS	Pancreas	Pancrea
25	chr4:87825000-87825800	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr4:87825000-87825800	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:87825000-87825800	Active TSS	Right Atrium	heart
28	chr4:87825000-87825800	Active TSS	NHDF-Ad	bronchial
29	chr4:87825000-87826000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:87825000-87826000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr4:87825000-87826000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:87825200-87825800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr4:87825200-87825800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
34	chr4:87825200-87825800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr4:87825200-87825800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:87825200-87825800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:87825200-87825800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr4:87825200-87825800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:87825200-87825800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:87825200-87825800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:87825200-87825800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:87825200-87825800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:87825200-87825800	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:87825200-87825800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr4:87825200-87825800	Active TSS	Fetal Brain Female	brain
46	chr4:87825200-87825800	Active TSS	Fetal Intestine Large	intestine
47	chr4:87825200-87825800	Bivalent/Poised TSS	Fetal Stomach	stomach
48	chr4:87825200-87825800	Flanking Active TSS	Fetal Thymus	thymus
49	chr4:87825200-87825800	Active TSS	Left Ventricle	heart
50	chr4:87825200-87825800	Active TSS	Right Ventricle	heart

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