Variant report

Variant	rs11182293
Chromosome Location	chr12:44231482-44231483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44184294..44187268-chr12:44231050..44232657,2	MCF-7	breast:
2	chr12:44215623..44218391-chr12:44230316..44232380,2	K562	blood:
3	chr12:44230758..44232293-chr12:44238436..44240278,2	K562	blood:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10506231	0.82[CHB][hapmap]
rs1057486	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10736017	0.94[ASN][1000 genomes]
rs10748373	0.92[EUR][1000 genomes]
rs10748378	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785462	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785463	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785466	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785469	0.85[ASN][1000 genomes]
rs10880573	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs10880578	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880585	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182273	0.81[CHB][hapmap]
rs11182275	0.82[CHB][hapmap]
rs11182280	0.82[CHB][hapmap]
rs11182290	0.82[CHB][hapmap]
rs11182324	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182325	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12298970	0.94[EUR][1000 genomes]
rs12311962	0.94[CEU][hapmap];0.94[EUR][1000 genomes]
rs12314126	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs1358705	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406787	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609548	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1609549	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1610291	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614042	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621279	0.93[CEU][hapmap];0.81[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622590	0.93[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623667	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1623829	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1675755	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1675756	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675758	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675764	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675765	0.88[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675767	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675769	0.94[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675771	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs1675772	0.93[CEU][hapmap];0.81[CHB][hapmap]
rs1675774	0.89[EUR][1000 genomes]
rs1675776	0.91[EUR][1000 genomes]
rs1675777	0.80[EUR][1000 genomes]
rs1675778	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs1675781	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675782	0.94[CEU][hapmap];0.91[EUR][1000 genomes]
rs1675783	0.92[EUR][1000 genomes]
rs1675784	0.92[EUR][1000 genomes]
rs1675785	0.94[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675787	0.93[CEU][hapmap];0.81[CHB][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675788	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1675789	0.94[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675790	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731423	0.94[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731427	0.81[CHB][hapmap];0.98[ASN][1000 genomes]
rs1731429	0.98[ASN][1000 genomes]
rs1731430	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731431	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731432	0.92[CEU][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731434	0.93[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731438	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs1731439	0.93[CEU][hapmap];0.89[EUR][1000 genomes]
rs1731440	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs1731442	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs1731447	0.91[ASN][1000 genomes]
rs1731448	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs1731450	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1731452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731454	0.93[CEU][hapmap];0.81[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731456	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731457	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731458	0.94[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731459	0.93[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219629	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407783	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2447113	0.93[CEU][hapmap];0.82[CHB][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2447114	0.92[EUR][1000 genomes]
rs2447115	0.92[EUR][1000 genomes]
rs2447116	0.92[EUR][1000 genomes]
rs2614394	0.81[CHB][hapmap];1.00[ASN][1000 genomes]
rs2951435	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2951436	0.92[EUR][1000 genomes]
rs4238089	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4238090	0.94[ASN][1000 genomes]
rs4238091	0.92[CEU][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4354753	0.82[CHB][hapmap];0.97[ASN][1000 genomes]
rs4363674	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4469953	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4537822	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572198	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4572199	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4609659	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768049	0.91[EUR][1000 genomes]
rs4768052	0.87[ASN][1000 genomes]
rs4768053	0.86[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4768538	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768543	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5019975	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582484	0.81[CHB][hapmap]
rs7295151	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7305609	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73096934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955615	0.93[CEU][hapmap];0.81[CHB][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7965240	0.81[ASN][1000 genomes]
rs7965330	0.81[ASN][1000 genomes]
rs7972025	0.81[CHB][hapmap];0.84[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44227800-44231800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:44230400-44233000	Weak transcription	Lung	lung
3	chr12:44230400-44243800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:44230400-44244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:44230400-44250800	Weak transcription	Gastric	stomach
6	chr12:44230600-44241200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:44230800-44232000	Enhancers	Stomach Mucosa	stomach
8	chr12:44230800-44232600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:44230800-44233000	Weak transcription	Left Ventricle	heart
10	chr12:44230800-44233000	Weak transcription	Right Atrium	heart
11	chr12:44230800-44233000	Weak transcription	Right Ventricle	heart
12	chr12:44230800-44234200	Weak transcription	Psoas Muscle	Psoas
13	chr12:44230800-44235000	Weak transcription	HSMM	muscle
14	chr12:44230800-44235600	Weak transcription	Fetal Lung	lung
15	chr12:44230800-44241200	Weak transcription	Placenta	Placenta
16	chr12:44230800-44243800	Weak transcription	Ovary	ovary
17	chr12:44230800-44250800	Weak transcription	Pancreas	Pancrea
18	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:44231000-44231800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr12:44231000-44232000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:44231000-44232200	Enhancers	Fetal Intestine Large	intestine
23	chr12:44231000-44232600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:44231000-44232600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:44231000-44232600	Enhancers	Fetal Heart	heart
26	chr12:44231000-44234200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:44231000-44234600	Enhancers	HepG2	liver
28	chr12:44231000-44235200	Weak transcription	Osteobl	bone
29	chr12:44231000-44235400	Weak transcription	NHDF-Ad	bronchial
30	chr12:44231000-44239200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:44231000-44240200	Weak transcription	Hela-S3	cervix
32	chr12:44231000-44240800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:44231000-44241200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:44231000-44242800	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:44231000-44245800	Weak transcription	Adipose Nuclei	Adipose
36	chr12:44231000-44245800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:44231000-44249800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:44231000-44251800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:44231000-44252200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
41	chr12:44231200-44231600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:44231200-44231800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:44231200-44231800	Enhancers	Fetal Intestine Small	intestine
44	chr12:44231200-44232000	Weak transcription	Brain Angular Gyrus	brain
45	chr12:44231200-44232400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:44231200-44232800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:44231200-44233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr12:44231200-44234400	Weak transcription	HSMMtube	muscle
49	chr12:44231200-44235200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:44231200-44238000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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