Variant report

Variant	rs2303969
Chromosome Location	chr11:72536272-72536273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72534881..72536815-chr11:72928046..72930030,2	MCF-7	breast:
2	chr11:72495812..72498226-chr11:72534239..72536924,2	K562	blood:
3	chr11:72535347..72538324-chr11:72540089..72543030,3	K562	blood:
4	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
5	chr11:72532401..72534314-chr11:72535836..72537842,2	K562	blood:
6	chr11:72532401..72534627-chr11:72535393..72537842,3	K562	blood:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000175591	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10793048	0.86[YRI][hapmap]
rs10793049	0.91[CHB][hapmap];0.88[YRI][hapmap]
rs10793054	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10793055	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs10898881	0.82[YRI][hapmap]
rs10898885	0.86[YRI][hapmap]
rs10898894	0.91[CHB][hapmap];1.00[YRI][hapmap]
rs11235612	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11602688	0.90[ASN][1000 genomes]
rs12294533	0.91[CHB][hapmap];1.00[YRI][hapmap]
rs60355221	0.81[AFR][1000 genomes]
rs6592500	0.81[YRI][hapmap]
rs7129921	0.91[CEU][hapmap]
rs7936751	0.82[CEU][hapmap];0.95[YRI][hapmap]
rs7943424	0.91[YRI][hapmap]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72528800-72542800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:72529000-72543600	Strong transcription	Dnd41	blood
3	chr11:72532400-72538400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:72532600-72542400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:72533000-72538600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:72533200-72536800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:72533200-72541400	Weak transcription	HSMMtube	muscle
8	chr11:72533600-72539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:72533600-72539000	Weak transcription	Liver	Liver
10	chr11:72533600-72539200	Weak transcription	Left Ventricle	heart
11	chr11:72533600-72539200	Weak transcription	Ovary	ovary
12	chr11:72533600-72539400	Weak transcription	Gastric	stomach
13	chr11:72533600-72542200	Weak transcription	NHEK	skin
14	chr11:72533600-72542400	Weak transcription	Fetal Lung	lung
15	chr11:72533600-72542600	Weak transcription	Stomach Mucosa	stomach
16	chr11:72533600-72542800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:72533600-72542800	Weak transcription	Hela-S3	cervix
18	chr11:72533800-72536400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:72533800-72537000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:72533800-72537200	Weak transcription	HepG2	liver
21	chr11:72533800-72537600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:72533800-72538200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:72533800-72538400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:72533800-72538400	Weak transcription	Fetal Intestine Large	intestine
25	chr11:72533800-72538800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:72533800-72538800	Weak transcription	Adipose Nuclei	Adipose
27	chr11:72533800-72538800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:72533800-72539000	Weak transcription	NHLF	lung
29	chr11:72533800-72539200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:72533800-72539200	Weak transcription	Colonic Mucosa	Colon
31	chr11:72533800-72539200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:72533800-72539400	Weak transcription	Aorta	Aorta
33	chr11:72533800-72539400	Weak transcription	Pancreas	Pancrea
34	chr11:72533800-72539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:72533800-72539600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:72533800-72541000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr11:72533800-72542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:72533800-72542400	Weak transcription	Brain Angular Gyrus	brain
39	chr11:72533800-72542600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:72533800-72542600	Weak transcription	Brain Substantia Nigra	brain
41	chr11:72533800-72542600	Weak transcription	Colon Smooth Muscle	Colon
42	chr11:72533800-72542600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:72533800-72542600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr11:72533800-72542600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:72533800-72542600	Weak transcription	HMEC	breast
46	chr11:72533800-72549400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr11:72534000-72536400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:72534000-72538200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:72534000-72538200	Strong transcription	Fetal Intestine Small	intestine
50	chr11:72534000-72538400	Weak transcription	NHDF-Ad	bronchial

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