Variant report

Variant	rs10783796
Chromosome Location	chr12:57127171-57127172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57117403..57120848-chr12:57123897..57127833,5	MCF-7	breast:
2	chr12:57117826..57120600-chr12:57126260..57128089,2	MCF-7	breast:
3	chr12:57117154..57122230-chr12:57122473..57127950,8	K562	blood:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1026565	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459246	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10747769	0.83[EUR][1000 genomes]
rs10747770	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10876916	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11171951	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11171956	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1131514	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12227117	0.82[ASN][1000 genomes]
rs12828563	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1466382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563896	0.83[ASN][1000 genomes]
rs1563897	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975875	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1979325	0.97[ASN][1000 genomes]
rs2035081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2035082	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290893	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2290894	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2926741	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2926743	0.97[ASN][1000 genomes]
rs2926747	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2926748	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958127	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958132	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2958134	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2958148	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2958149	0.94[ASN][1000 genomes]
rs2958153	0.81[ASN][1000 genomes]
rs2958155	0.80[EUR][1000 genomes]
rs3214051	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4759256	0.90[ASN][1000 genomes]
rs4788	0.96[ASN][1000 genomes]
rs4902	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137749	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295862	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7297289	0.80[ASN][1000 genomes]
rs7303216	0.80[ASN][1000 genomes]
rs7313074	0.90[ASN][1000 genomes]
rs7966391	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967600	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7978685	0.96[ASN][1000 genomes]
rs7980317	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7980835	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs898609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898611	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9989034	0.81[EUR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1794914	chr12:57119236-57195379	Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57119200-57127400	Weak transcription	Spleen	Spleen
2	chr12:57119200-57130400	Weak transcription	Gastric	stomach
3	chr12:57119400-57129000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:57119400-57130600	Weak transcription	Small Intestine	intestine
5	chr12:57119400-57134000	Weak transcription	Esophagus	oesophagus
6	chr12:57119400-57138000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr12:57119400-57145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:57119600-57128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:57119600-57129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:57119600-57130600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:57119600-57130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:57119600-57130600	Weak transcription	Lung	lung
13	chr12:57119600-57130600	Weak transcription	Pancreas	Pancrea
14	chr12:57119800-57128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:57119800-57130400	Weak transcription	Ovary	ovary
16	chr12:57119800-57131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:57119800-57134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:57119800-57134000	Weak transcription	Left Ventricle	heart
19	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:57119800-57144800	Weak transcription	NHLF	lung
21	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
22	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
23	chr12:57120000-57127600	Weak transcription	Fetal Lung	lung
24	chr12:57120000-57128200	Weak transcription	Thymus	Thymus
25	chr12:57120000-57129200	Weak transcription	Fetal Intestine Large	intestine
26	chr12:57120000-57130400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:57120000-57130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:57120000-57130400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr12:57120000-57130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:57120000-57130600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:57120000-57130800	Weak transcription	Placenta	Placenta
32	chr12:57120000-57130800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:57120000-57131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:57120000-57131600	Weak transcription	Brain Substantia Nigra	brain
35	chr12:57120000-57133200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:57120000-57134200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:57120000-57134200	Weak transcription	Brain Angular Gyrus	brain
38	chr12:57120000-57134800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:57120000-57137200	Weak transcription	NHEK	skin
40	chr12:57120000-57138400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:57120000-57140400	Weak transcription	HUVEC	blood vessel
42	chr12:57120000-57144400	Weak transcription	Fetal Brain Male	brain
43	chr12:57120000-57144600	Weak transcription	NHDF-Ad	bronchial
44	chr12:57120000-57144800	Weak transcription	Fetal Heart	heart
45	chr12:57120000-57144800	Weak transcription	Fetal Kidney	kidney
46	chr12:57120000-57144800	Weak transcription	NH-A	brain
47	chr12:57120000-57145000	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:57120000-57145200	Weak transcription	Aorta	Aorta
49	chr12:57120200-57127600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr12:57120200-57130600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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