Variant report

Variant	rs12470101
Chromosome Location	chr2:113918477-113918478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113913287..113915988-chr2:113917070..113921461,5	K562	blood:
2	chr2:113916801..113918833-chr2:113943214..113944985,2	MCF-7	breast:
3	chr2:113918062..113920227-chr2:113930296..113933037,2	MCF-7	breast:
4	chr2:113917155..113920806-chr2:113921450..113923918,4	MCF-7	breast:
5	chr2:113914138..113916713-chr2:113918007..113922914,4	K562	blood:
6	chr2:113913709..113916630-chr2:113917951..113924998,9	MCF-7	breast:
7	chr2:113916877..113920304-chr2:113923250..113926364,4	K562	blood:

Variant related genes	Relation type
ENSG00000234174	Chromatin interaction
ENSG00000125637	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11123168	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12475781	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2121332	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2130991	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2264096	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2264390	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3099478	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs315942	0.82[EUR][1000 genomes]
rs315957	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs315958	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6542118	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542119	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542120	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6721033	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6721720	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7608389	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608695	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs895495	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs902693	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs931471	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[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	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv582711	chr2:113895516-113984503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113916000-113918800	Enhancers	Placenta	Placenta
2	chr2:113916000-113920000	Weak transcription	K562	blood
3	chr2:113916000-113920200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:113916000-113921600	Weak transcription	Colonic Mucosa	Colon
5	chr2:113916000-113922000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:113916000-113939000	Weak transcription	Right Atrium	heart
7	chr2:113916200-113921800	Weak transcription	Small Intestine	intestine
8	chr2:113916200-113922800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr2:113916400-113920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:113916600-113921800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:113916600-113922400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:113916600-113924200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:113916800-113920200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:113916800-113920200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:113916800-113921800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:113916800-113922000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:113917000-113920000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:113917000-113921800	Weak transcription	Fetal Intestine Large	intestine
19	chr2:113917200-113919800	Weak transcription	Primary T cells from cord blood	blood
20	chr2:113917200-113919800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:113917200-113919800	Weak transcription	Gastric	stomach
22	chr2:113917200-113920000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:113917200-113920000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:113917200-113920200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:113917200-113921600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:113917200-113921800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:113917200-113921800	Weak transcription	Esophagus	oesophagus
28	chr2:113917200-113921800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:113917200-113921800	Weak transcription	Stomach Mucosa	stomach
30	chr2:113917200-113922400	Weak transcription	Lung	lung
31	chr2:113917200-113922800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:113917200-113923000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:113917200-113923600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:113917400-113921600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:113917400-113921600	Weak transcription	NHEK	skin
36	chr2:113917400-113921800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:113917400-113921800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:113917400-113921800	Weak transcription	HepG2	liver
39	chr2:113917400-113921800	Weak transcription	HMEC	breast
40	chr2:113917400-113922200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:113917600-113919800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:113917600-113920000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:113917600-113921800	Weak transcription	Pancreas	Pancrea
44	chr2:113918400-113920000	Weak transcription	Liver	Liver

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