Variant report

Variant	rs62182441
Chromosome Location	chr2:172805964-172805965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs62182434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62183764	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62183774	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62183775	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62183802	1.00[AFR][1000 genomes]
rs62184167	1.00[AFR][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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172812800	Weak transcription	Lung	lung
3	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:172780200-172822200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172780400-172820600	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:172780600-172811200	Weak transcription	HSMMtube	muscle
9	chr2:172780600-172811200	Weak transcription	NHEK	skin
10	chr2:172780600-172820600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:172780600-172822200	Weak transcription	Liver	Liver
12	chr2:172780600-172822200	Weak transcription	Fetal Kidney	kidney
13	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
15	chr2:172781000-172811000	Weak transcription	Right Ventricle	heart
16	chr2:172781000-172811200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:172781200-172808800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:172781200-172811200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:172781400-172822000	Weak transcription	HUVEC	blood vessel
20	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:172783800-172811200	Weak transcription	HMEC	breast
22	chr2:172784000-172811400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:172784200-172811200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:172784600-172815000	Weak transcription	Left Ventricle	heart
25	chr2:172785000-172811200	Weak transcription	Adipose Nuclei	Adipose
26	chr2:172785400-172822200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:172785400-172822400	Weak transcription	Placenta	Placenta
28	chr2:172785800-172806400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:172785800-172822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:172787000-172811400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:172787200-172812800	Weak transcription	Fetal Brain Male	brain
32	chr2:172787400-172810600	Weak transcription	Hela-S3	cervix
33	chr2:172787600-172809600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:172787800-172822200	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:172788000-172806200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:172788000-172809600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:172788000-172811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:172788000-172811400	Weak transcription	Fetal Intestine Large	intestine
39	chr2:172788000-172811800	Weak transcription	Ovary	ovary
40	chr2:172788000-172812600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:172788200-172809600	Weak transcription	Thymus	Thymus
42	chr2:172788400-172810600	Weak transcription	GM12878-XiMat	blood
43	chr2:172788400-172811200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:172788400-172812800	Weak transcription	Pancreas	Pancrea
45	chr2:172788600-172810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:172788800-172809600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:172788800-172811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:172789000-172808400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:172789000-172810600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:172789400-172809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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