Variant report

Variant	rs71465148
Chromosome Location	chr12:62661272-62661273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62652133..62655871-chr12:62655983..62662487,11	MCF-7	breast:
2	chr12:62658927..62663716-chr12:62665926..62669269,6	K562	blood:
3	chr12:62652480..62656842-chr12:62660484..62666206,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198673	Chromatin interaction
ENSG00000135655	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11174402	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174406	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174407	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174414	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174415	1.00[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174454	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174457	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]
rs12811821	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814369	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816968	0.86[AFR][1000 genomes];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	0.87[AFR][1000 genomes];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	1.00[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34684698	1.00[ASN][1000 genomes]
rs35360491	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35533759	0.82[AMR][1000 genomes];0.97[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	0.86[AFR][1000 genomes];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	chr12:62655600-62661400	Weak transcription	NH-A	brain
4	chr12:62656000-62661400	Weak transcription	Stomach Mucosa	stomach
5	chr12:62656000-62662000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:62656000-62663200	Weak transcription	Placenta	Placenta
7	chr12:62656000-62664800	Weak transcription	Fetal Stomach	stomach
8	chr12:62656000-62665400	Weak transcription	Brain Angular Gyrus	brain
9	chr12:62656000-62668200	Weak transcription	Right Atrium	heart
10	chr12:62656400-62669600	Enhancers	Liver	Liver
11	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:62656600-62661400	Weak transcription	HMEC	breast
13	chr12:62656600-62661400	Weak transcription	HUVEC	blood vessel
14	chr12:62656600-62662200	Weak transcription	Adipose Nuclei	Adipose
15	chr12:62656600-62663200	Weak transcription	Ovary	ovary
16	chr12:62656600-62664000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr12:62656600-62668400	Weak transcription	Fetal Brain Female	brain
18	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
19	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
20	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:62657400-62666600	Weak transcription	HepG2	liver
22	chr12:62658000-62663200	Weak transcription	Thymus	Thymus
23	chr12:62658200-62661400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:62658400-62669400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:62658400-62671200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:62658400-62671400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:62658800-62662200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:62659000-62662400	Enhancers	Dnd41	blood
29	chr12:62659000-62662800	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:62659000-62671800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr12:62659200-62661600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:62659200-62662000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:62659200-62662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:62659200-62663000	Enhancers	Primary B cells from cord blood	blood
35	chr12:62659200-62663000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:62659200-62664400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:62659200-62669800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:62659400-62671400	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr12:62659600-62661400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:62659600-62661400	Weak transcription	Small Intestine	intestine
41	chr12:62659600-62663200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr12:62659600-62663200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:62659600-62663200	Weak transcription	Psoas Muscle	Psoas
44	chr12:62659600-62664200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr12:62659600-62664600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:62659600-62667800	Weak transcription	Left Ventricle	heart
47	chr12:62659800-62662200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:62659800-62664600	Enhancers	Primary T cells from cord blood	blood
49	chr12:62660200-62663200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:62660200-62663600	Enhancers	NHDF-Ad	bronchial

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