Variant report

Variant	rs62156494
Chromosome Location	chr2:100326839-100326840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17023031	0.87[EUR][1000 genomes]
rs17351403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes]
rs17716597	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17783548	0.89[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62156490	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156491	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156492	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156497	1.00[EUR][1000 genomes]
rs62156498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156500	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs940459	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:100315000-100336800	Weak transcription	Aorta	Aorta
5	chr2:100316200-100327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:100317800-100327200	Weak transcription	Right Atrium	heart
7	chr2:100321200-100327200	Weak transcription	Left Ventricle	heart
8	chr2:100321800-100327400	Weak transcription	Psoas Muscle	Psoas
9	chr2:100321800-100329000	Enhancers	Fetal Brain Male	brain
10	chr2:100322000-100340000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:100323400-100327600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:100323600-100327200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:100323800-100327000	Weak transcription	Fetal Stomach	stomach
14	chr2:100324400-100327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:100324400-100327400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:100324600-100327000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:100324600-100327200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:100325000-100327000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:100325000-100327200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:100325000-100327400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:100325200-100327200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:100325200-100327200	Weak transcription	Fetal Lung	lung
23	chr2:100325400-100329000	Enhancers	Fetal Muscle Leg	muscle
24	chr2:100325400-100329800	Strong transcription	Primary B cells from cord blood	blood
25	chr2:100325600-100327000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:100325600-100327200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:100325800-100327200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:100325800-100327600	Weak transcription	Right Ventricle	heart
29	chr2:100326000-100327400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:100326200-100328200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:100326400-100327000	Enhancers	Brain Hippocampus Middle	brain
32	chr2:100326400-100328800	Enhancers	Fetal Brain Female	brain
33	chr2:100326400-100328800	Enhancers	Fetal Heart	heart
34	chr2:100326400-100329000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:100326600-100328000	Enhancers	Placenta	Placenta
36	chr2:100326600-100329000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr2:100326800-100327400	Enhancers	HSMMtube	muscle
38	chr2:100326800-100327800	Enhancers	Ovary	ovary
39	chr2:100326800-100328000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:100326800-100328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:100326800-100328200	Enhancers	Skeletal Muscle Female	skeletal muscle

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