Variant report

Variant	rs17839123
Chromosome Location	chr4:120193921-120193922
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17050171	1.00[AMR][1000 genomes]
rs17050313	1.00[AMR][1000 genomes]
rs17050454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17839113	1.00[AMR][1000 genomes]
rs17839114	1.00[AMR][1000 genomes]
rs17839118	1.00[AMR][1000 genomes]
rs35744921	0.87[AFR][1000 genomes]
rs61758375	0.87[AFR][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
4	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:120159400-120200800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:120159400-120201600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:120159600-120200800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:120160800-120195000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:120166000-120195200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
12	chr4:120167000-120194400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:120173400-120195200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:120175600-120195200	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr4:120176800-120194400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:120176800-120200800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:120176800-120202600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:120177000-120194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:120177000-120195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:120177000-120205600	Weak transcription	Aorta	Aorta
23	chr4:120177000-120206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:120177000-120213600	Weak transcription	Lung	lung
25	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
27	chr4:120177200-120206200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:120177200-120213600	Weak transcription	Esophagus	oesophagus
29	chr4:120177800-120211400	Weak transcription	HepG2	liver
30	chr4:120178200-120213400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:120178200-120213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:120178200-120213800	Weak transcription	Primary B cells from cord blood	blood
33	chr4:120178600-120206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
35	chr4:120179400-120194600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:120179600-120200800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr4:120180400-120194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:120180400-120200800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:120181400-120194000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:120184000-120205200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:120184200-120194400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr4:120185800-120194800	Strong transcription	HSMM	muscle
43	chr4:120185800-120195200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:120186000-120195000	Strong transcription	Fetal Intestine Large	intestine
45	chr4:120186800-120194800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:120187000-120195200	Strong transcription	Liver	Liver
47	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
48	chr4:120187400-120194600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:120187600-120198800	Weak transcription	Fetal Heart	heart
50	chr4:120187800-120206000	Weak transcription	Rectal Smooth Muscle	rectum

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