Variant report

Variant	rs62157498
Chromosome Location	chr2:113250737-113250738
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112988264..112989991-chr2:113249317..113251207,2	K562	blood:
2	chr2:113249787..113252523-chr2:113253686..113256564,2	K562	blood:
3	chr2:113238650..113242491-chr2:113249319..113253275,7	MCF-7	breast:
4	chr2:113244108..113246040-chr2:113250094..113252962,3	MCF-7	breast:
5	chr2:113239379..113240948-chr2:113249251..113251583,2	MCF-7	breast:
6	chr2:113244367..113247347-chr2:113249127..113251092,3	MCF-7	breast:
7	chr2:113249787..113252552-chr2:113252556..113255186,2	K562	blood:

Variant related genes	Relation type
ENSG00000144161	Chromatin interaction
ENSG00000114999	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11692276	0.89[ASN][1000 genomes]
rs12464735	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12469608	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13024583	0.94[ASN][1000 genomes]
rs34179430	0.94[ASN][1000 genomes]
rs57492581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62157497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157536	0.89[ASN][1000 genomes]
rs7559710	0.89[ASN][1000 genomes]
rs7576952	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7601108	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113240800-113251600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:113241000-113251600	Weak transcription	Aorta	Aorta
3	chr2:113241000-113277200	Weak transcription	Gastric	stomach
4	chr2:113241000-113277800	Weak transcription	Colonic Mucosa	Colon
5	chr2:113241200-113251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:113241200-113251600	Weak transcription	Placenta	Placenta
7	chr2:113241200-113251800	Weak transcription	Left Ventricle	heart
8	chr2:113241200-113251800	Weak transcription	Psoas Muscle	Psoas
9	chr2:113241200-113252200	Weak transcription	Ovary	ovary
10	chr2:113241200-113259600	Weak transcription	Esophagus	oesophagus
11	chr2:113241200-113271600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:113241200-113277800	Weak transcription	Pancreas	Pancrea
13	chr2:113241200-113278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:113241400-113251000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:113241400-113251600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:113241400-113251800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:113241400-113252000	Weak transcription	Fetal Kidney	kidney
19	chr2:113241400-113254000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:113241400-113279200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:113241600-113250800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:113241600-113250800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:113241600-113251600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr2:113241600-113251600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:113241600-113251600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:113241600-113251800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:113241600-113252000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr2:113241600-113252600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr2:113241600-113260600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:113241600-113277200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
32	chr2:113241800-113250800	Weak transcription	Stomach Mucosa	stomach
33	chr2:113241800-113251000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:113241800-113251000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:113241800-113251400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:113241800-113251400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:113241800-113251600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:113241800-113251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:113241800-113251800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:113241800-113251800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:113241800-113252000	Weak transcription	Liver	Liver
42	chr2:113241800-113252000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:113241800-113257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:113242000-113251400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:113242000-113259600	Weak transcription	Fetal Heart	heart
48	chr2:113242400-113251000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:113242400-113251600	Weak transcription	Fetal Brain Male	brain
50	chr2:113242400-113251800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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