Variant report

Variant	rs62156495
Chromosome Location	chr2:100327443-100327444
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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156494	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:42 , 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	chr2:100321800-100329000	Enhancers	Fetal Brain Male	brain
6	chr2:100322000-100340000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:100323400-100327600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:100325400-100329000	Enhancers	Fetal Muscle Leg	muscle
9	chr2:100325400-100329800	Strong transcription	Primary B cells from cord blood	blood
10	chr2:100325800-100327600	Weak transcription	Right Ventricle	heart
11	chr2:100326200-100328200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:100326400-100328800	Enhancers	Fetal Brain Female	brain
13	chr2:100326400-100328800	Enhancers	Fetal Heart	heart
14	chr2:100326400-100329000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:100326600-100328000	Enhancers	Placenta	Placenta
16	chr2:100326600-100329000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:100326800-100327800	Enhancers	Ovary	ovary
18	chr2:100326800-100328000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:100326800-100328200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:100326800-100328200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:100327000-100327600	Enhancers	Osteobl	bone
22	chr2:100327000-100327800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:100327000-100327800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:100327000-100328200	Enhancers	Fetal Stomach	stomach
25	chr2:100327000-100329000	Enhancers	Adipose Nuclei	Adipose
26	chr2:100327200-100327600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:100327200-100327600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:100327200-100327600	Enhancers	Fetal Thymus	thymus
29	chr2:100327200-100327800	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr2:100327200-100328000	Enhancers	Fetal Lung	lung
31	chr2:100327200-100328000	Enhancers	Left Ventricle	heart
32	chr2:100327200-100328000	Enhancers	Right Atrium	heart
33	chr2:100327200-100328200	Enhancers	Rectal Smooth Muscle	rectum
34	chr2:100327200-100328600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:100327200-100328600	Enhancers	Colon Smooth Muscle	Colon
36	chr2:100327200-100328800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:100327200-100328800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:100327200-100329000	Enhancers	Fetal Muscle Trunk	muscle
39	chr2:100327400-100327800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:100327400-100327800	Flanking Active TSS	HSMMtube	muscle
41	chr2:100327400-100328000	Enhancers	Psoas Muscle	Psoas
42	chr2:100327400-100334600	Strong transcription	Primary B cells from peripheral blood	blood

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