Variant report

Variant	rs11168290
Chromosome Location	chr12:48291251-48291252
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48290491..48293041-chr12:48295549..48298546,2	K562	blood:
2	chr12:48290385..48291342-chr7:45017803..45018691,2	Hela-S3	cervix:
3	chr12:48290408..48293041-chr12:48297046..48299548,2	K562	blood:
4	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
5	chr12:48275808..48279241-chr12:48289701..48292844,3	K562	blood:

Variant related genes	Relation type
ENSG00000205537	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000136286	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10467100	1.00[EUR][1000 genomes]
rs11168264	1.00[EUR][1000 genomes]
rs11168288	1.00[EUR][1000 genomes]
rs11168368	1.00[EUR][1000 genomes]
rs11574002	1.00[EUR][1000 genomes]
rs11574060	1.00[EUR][1000 genomes]
rs11830088	1.00[EUR][1000 genomes]
rs11833896	1.00[EUR][1000 genomes]
rs11835282	1.00[EUR][1000 genomes]
rs11835720	1.00[EUR][1000 genomes]
rs11836542	1.00[EUR][1000 genomes]
rs11838217	1.00[EUR][1000 genomes]
rs12297117	1.00[EUR][1000 genomes]
rs1793947	1.00[EUR][1000 genomes]
rs34116679	1.00[EUR][1000 genomes]
rs34120080	1.00[EUR][1000 genomes]
rs34698661	1.00[EUR][1000 genomes]
rs35445616	1.00[EUR][1000 genomes]
rs35902603	1.00[EUR][1000 genomes]
rs41272745	1.00[EUR][1000 genomes]
rs41272751	1.00[EUR][1000 genomes]
rs41272757	1.00[EUR][1000 genomes]
rs41272761	1.00[EUR][1000 genomes]
rs56265470	1.00[EUR][1000 genomes]
rs57550917	1.00[EUR][1000 genomes]
rs57783574	1.00[EUR][1000 genomes]
rs58279970	1.00[EUR][1000 genomes]
rs58573495	1.00[EUR][1000 genomes]
rs60556433	1.00[EUR][1000 genomes]
rs60894356	1.00[EUR][1000 genomes]
rs7316602	1.00[EUR][1000 genomes]
rs73297147	1.00[EUR][1000 genomes]
rs73297150	1.00[EUR][1000 genomes]
rs73297159	1.00[EUR][1000 genomes]
rs74085216	1.00[EUR][1000 genomes]
rs74085221	1.00[EUR][1000 genomes]
rs74086446	1.00[EUR][1000 genomes]
rs74088715	1.00[EUR][1000 genomes]
rs74088779	1.00[EUR][1000 genomes]
rs7954412	1.00[EUR][1000 genomes]
rs7967673	1.00[EUR][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
2	chr12:48277200-48295000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:48283400-48293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:48285000-48294400	Weak transcription	Right Ventricle	heart
5	chr12:48286000-48292800	Weak transcription	Small Intestine	intestine
6	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
7	chr12:48287000-48292000	Genic enhancers	HMEC	breast
8	chr12:48287000-48293200	Weak transcription	Primary T cells from cord blood	blood
9	chr12:48287600-48291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:48287600-48291600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:48287800-48291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:48287800-48292000	Enhancers	Colonic Mucosa	Colon
13	chr12:48287800-48292000	Genic enhancers	NHEK	skin
14	chr12:48287800-48293400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:48287800-48294200	Weak transcription	NHDF-Ad	bronchial
16	chr12:48288400-48291600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:48288400-48292000	Weak transcription	Osteobl	bone
18	chr12:48288400-48293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr12:48288400-48293400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:48288400-48294200	Weak transcription	Fetal Thymus	thymus
21	chr12:48288400-48294400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:48289600-48291400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:48289600-48291400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:48289600-48291400	Enhancers	Esophagus	oesophagus
25	chr12:48289600-48291400	Enhancers	Placenta	Placenta
26	chr12:48289600-48291400	Enhancers	Stomach Mucosa	stomach
27	chr12:48289600-48291400	Enhancers	Hela-S3	cervix
28	chr12:48289800-48291400	Enhancers	Lung	lung
29	chr12:48289800-48293800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:48290000-48291800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:48290200-48291400	Enhancers	Pancreas	Pancrea
32	chr12:48290200-48293600	Weak transcription	Primary B cells from cord blood	blood
33	chr12:48290400-48291400	Enhancers	Fetal Intestine Large	intestine
34	chr12:48290400-48293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:48290600-48291400	Enhancers	Liver	Liver
36	chr12:48290600-48291400	Enhancers	Gastric	stomach
37	chr12:48290600-48291400	Enhancers	NHLF	lung
38	chr12:48290600-48293000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:48290800-48291400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:48290800-48291400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:48290800-48291600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr12:48290800-48293200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:48290800-48293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr12:48290800-48293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:48290800-48293200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:48290800-48293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:48290800-48293600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr12:48290800-48293800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:48290800-48294000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:48290800-48294400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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