Variant report

Variant	rs11174406
Chromosome Location	chr12:62662758-62662759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62662341..62664001-chr12:62666915..62669884,2	K562	blood:
2	chr12:62661583..62664398-chr12:62686936..62688522,2	MCF-7	breast:
3	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:
4	chr12:62661789..62663632-chr12:62668406..62670876,2	MCF-7	breast:
5	chr12:62652480..62656842-chr12:62660484..62666206,11	MCF-7	breast:
6	chr12:62661598..62664528-chr12:62672513..62674736,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11174402	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174407	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174414	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174415	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174429	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174443	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174444	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174454	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174457	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174461	1.00[ASN][1000 genomes]
rs11174462	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174476	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174479	1.00[ASN][1000 genomes]
rs11174492	1.00[ASN][1000 genomes]
rs11174499	1.00[ASN][1000 genomes]
rs11174500	1.00[ASN][1000 genomes]
rs11174501	1.00[ASN][1000 genomes]
rs11174506	1.00[ASN][1000 genomes]
rs11174512	1.00[ASN][1000 genomes]
rs12811821	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816968	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818818	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821047	0.89[EUR][1000 genomes]
rs12821894	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826072	0.97[EUR][1000 genomes]
rs17718211	1.00[ASN][1000 genomes]
rs34007988	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34162598	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34251904	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301355	1.00[ASN][1000 genomes]
rs34339271	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34684698	1.00[ASN][1000 genomes]
rs35360491	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35533759	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465148	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71465151	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7314752	1.00[ASN][1000 genomes]
rs7973386	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978244	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655000-62663400	Weak transcription	Lung	lung
2	chr12:62655400-62685600	Weak transcription	HSMM	muscle
3	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
4	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
5	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
6	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
7	chr12:62656400-62669600	Enhancers	Liver	Liver
8	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:62656600-62663200	Weak transcription	Ovary	ovary
10	chr12:62656600-62664000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:62656600-62668400	Weak transcription	Fetal Brain Female	brain
12	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
13	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
14	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:62657400-62666600	Weak transcription	HepG2	liver
16	chr12:62658000-62663200	Weak transcription	Thymus	Thymus
17	chr12:62658400-62669400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:62659000-62662800	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:62659000-62671800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:62659200-62663000	Enhancers	Primary B cells from cord blood	blood
23	chr12:62659200-62663000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:62659200-62664400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:62659200-62669800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:62659400-62671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:62659600-62663200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:62659600-62663200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:62659600-62663200	Weak transcription	Psoas Muscle	Psoas
30	chr12:62659600-62664200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr12:62659600-62664600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr12:62659600-62667800	Weak transcription	Left Ventricle	heart
33	chr12:62659800-62664600	Enhancers	Primary T cells from cord blood	blood
34	chr12:62660200-62663200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:62660200-62663600	Enhancers	NHDF-Ad	bronchial
36	chr12:62660800-62663600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:62660800-62665000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:62661000-62663200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:62661000-62663400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:62661000-62663400	Enhancers	Fetal Heart	heart
41	chr12:62661000-62663800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:62661000-62664800	Enhancers	Hela-S3	cervix
43	chr12:62661200-62663000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr12:62661200-62663000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr12:62661200-62663400	Enhancers	Osteobl	bone
46	chr12:62661200-62664600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:62661200-62665000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr12:62661400-62663000	Enhancers	Stomach Mucosa	stomach
49	chr12:62661400-62663200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:62661400-62663400	Enhancers	Small Intestine	intestine

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