Variant report

Variant	rs4395433
Chromosome Location	chr3:121535856-121535857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1920295	1.00[AMR][1000 genomes]
rs1920303	1.00[AMR][1000 genomes]
rs1920308	1.00[AMR][1000 genomes]
rs1920311	1.00[AMR][1000 genomes]
rs1920312	1.00[AMR][1000 genomes]
rs1920313	1.00[AMR][1000 genomes]
rs1920315	1.00[AMR][1000 genomes]
rs2091663	1.00[AMR][1000 genomes]
rs2091666	1.00[AMR][1000 genomes]
rs2332043	1.00[AMR][1000 genomes]
rs2332045	1.00[AMR][1000 genomes]
rs2332047	1.00[AMR][1000 genomes]
rs2332055	1.00[AMR][1000 genomes]
rs2689275	1.00[AMR][1000 genomes]
rs2689277	1.00[AMR][1000 genomes]
rs2700423	1.00[AMR][1000 genomes]
rs2877567	1.00[AMR][1000 genomes]
rs34893142	1.00[AMR][1000 genomes]
rs35264348	1.00[AMR][1000 genomes]
rs4459935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59621197	1.00[AMR][1000 genomes]
rs60682200	1.00[AMR][1000 genomes]
rs61166760	1.00[AMR][1000 genomes]
rs6438650	1.00[AMR][1000 genomes]
rs6438659	1.00[AMR][1000 genomes]
rs6438686	1.00[AMR][1000 genomes]
rs6768507	1.00[AMR][1000 genomes]
rs6799626	1.00[AMR][1000 genomes]
rs6802026	1.00[AMR][1000 genomes]
rs72963373	1.00[AMR][1000 genomes]
rs7619800	1.00[AMR][1000 genomes]
rs9822660	1.00[AMR][1000 genomes]
rs9869984	1.00[AMR][1000 genomes]
rs9878616	1.00[AMR][1000 genomes]
rs9882454	1.00[AMR][1000 genomes]
rs9882939	1.00[AMR][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	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS 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	37 gene(s)	inside rSNPs	diseases
6	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
7	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121491600-121552600	Weak transcription	NHLF	lung
2	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
3	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
5	chr3:121507200-121536000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:121508400-121536400	Weak transcription	HUVEC	blood vessel
7	chr3:121508600-121541400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:121522400-121536600	Weak transcription	Fetal Kidney	kidney
9	chr3:121524400-121536600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:121524600-121536400	Weak transcription	K562	blood
11	chr3:121524800-121541400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:121525200-121536400	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:121526000-121542800	Weak transcription	NH-A	brain
14	chr3:121526200-121540000	Weak transcription	NHDF-Ad	bronchial
15	chr3:121526400-121536400	Weak transcription	Osteobl	bone
16	chr3:121527800-121536400	Weak transcription	A549	lung
17	chr3:121528000-121553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:121528600-121536000	Weak transcription	HSMM	muscle
19	chr3:121528600-121537200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:121529000-121536400	Weak transcription	Hela-S3	cervix
21	chr3:121530200-121536200	Weak transcription	NHEK	skin
22	chr3:121530600-121536000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:121530600-121536200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:121530600-121536400	Weak transcription	Brain Anterior Caudate	brain
25	chr3:121530600-121536800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:121530800-121536000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:121530800-121536400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr3:121530800-121536400	Weak transcription	Liver	Liver
29	chr3:121530800-121536400	Weak transcription	Placenta	Placenta
30	chr3:121530800-121536600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:121530800-121537600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:121530800-121541200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:121530800-121543200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:121530800-121552200	Weak transcription	Small Intestine	intestine
35	chr3:121530800-121552400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:121530800-121552800	Weak transcription	HSMMtube	muscle
37	chr3:121530800-121553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:121530800-121553200	Weak transcription	Esophagus	oesophagus
39	chr3:121531000-121536000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:121531000-121536000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:121531000-121536000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:121531000-121536000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:121531000-121536000	Weak transcription	Adipose Nuclei	Adipose
44	chr3:121531000-121536000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:121531000-121536000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:121531000-121536200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:121531000-121536400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr3:121531000-121536400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr3:121531000-121536600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:121531000-121536600	Weak transcription	Lung	lung

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