Variant report

Variant	rs62157588
Chromosome Location	chr2:98357817-98357818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98326109..98328548-chr2:98356181..98358918,2	MCF-7	breast:
2	chr2:98355724..98358443-chr2:98358896..98360638,2	MCF-7	breast:
3	chr2:98317266..98319874-chr2:98357687..98360540,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10460480	0.88[ASN][1000 genomes]
rs11687510	0.83[ASN][1000 genomes]
rs11691641	0.91[EUR][1000 genomes]
rs12053205	0.82[ASN][1000 genomes]
rs13002912	0.86[EUR][1000 genomes]
rs1562293	0.85[ASN][1000 genomes]
rs17033906	0.94[ASN][1000 genomes]
rs2084177	0.91[EUR][1000 genomes]
rs2121272	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278699	0.94[ASN][1000 genomes]
rs2289918	0.94[ASN][1000 genomes]
rs2289919	0.92[ASN][1000 genomes]
rs34747246	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35321446	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56293187	0.94[ASN][1000 genomes]
rs56948188	0.90[ASN][1000 genomes]
rs57831860	0.94[ASN][1000 genomes]
rs58019724	0.84[ASN][1000 genomes]
rs58511420	0.94[ASN][1000 genomes]
rs59562515	0.84[ASN][1000 genomes]
rs61228852	0.82[ASN][1000 genomes]
rs6543040	0.86[AMR][1000 genomes]
rs6711959	0.94[ASN][1000 genomes]
rs6714710	0.80[EUR][1000 genomes]
rs6724539	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72951160	0.94[ASN][1000 genomes]
rs73963109	0.94[ASN][1000 genomes]
rs746003	0.94[ASN][1000 genomes]
rs746004	0.94[ASN][1000 genomes]
rs7565744	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98336400-98361400	Weak transcription	Primary B cells from cord blood	blood
2	chr2:98336600-98358800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:98338800-98358800	Strong transcription	Thymus	Thymus
4	chr2:98345000-98366400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:98347000-98360600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:98347200-98358800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:98348200-98372400	Weak transcription	Esophagus	oesophagus
8	chr2:98348800-98364600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:98350000-98360400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:98353400-98358400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:98354400-98358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:98354400-98368200	Weak transcription	Colonic Mucosa	Colon
14	chr2:98355000-98359600	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr2:98355000-98373200	Weak transcription	Gastric	stomach
16	chr2:98356200-98358000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:98356600-98358200	Weak transcription	Spleen	Spleen
18	chr2:98356600-98360000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:98356600-98360200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:98356600-98362000	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:98356800-98358200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:98356800-98362200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:98356800-98363000	Weak transcription	HSMMtube	muscle
24	chr2:98357000-98358000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:98357000-98358800	Genic enhancers	Fetal Thymus	thymus
26	chr2:98357000-98359000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
27	chr2:98357000-98359200	Enhancers	Fetal Muscle Leg	muscle
28	chr2:98357000-98365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:98357200-98358000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr2:98357200-98358200	Weak transcription	Primary T cells from cord blood	blood
31	chr2:98357200-98358600	Enhancers	Fetal Muscle Trunk	muscle
32	chr2:98357200-98359200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:98357200-98359200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:98357200-98359200	Enhancers	NHEK	skin
35	chr2:98357200-98359600	Enhancers	Right Atrium	heart
36	chr2:98357200-98360400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:98357200-98361000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:98357200-98367400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:98357400-98358000	Weak transcription	Fetal Heart	heart
40	chr2:98357400-98358200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:98357400-98358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:98357400-98358400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr2:98357400-98358400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:98357400-98358800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:98357400-98358800	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr2:98357400-98358800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:98357400-98358800	Weak transcription	Stomach Mucosa	stomach
48	chr2:98357400-98360200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:98357400-98360400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:98357400-98361800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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