Variant report

Variant	rs11171956
Chromosome Location	chr12:57124595-57124596
allele	C/T
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	chr12:57123950..57125540-chr12:57144602..57146347,2	K562	blood:
3	chr12:57124041..57126184-chr12:57145375..57147304,2	MCF-7	breast:
4	chr12:57117154..57122230-chr12:57122473..57127950,8	K562	blood:

Variant related genes	Relation type
ENSG00000196531	Chromatin interaction
ENSG00000025423	Chromatin interaction
ENSG00000198056	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1026565	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459246	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10747769	0.83[EUR][1000 genomes]
rs10747770	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783796	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10876916	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10876918	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11171951	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1131514	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12227117	0.81[ASN][1000 genomes]
rs12828563	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1466382	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1563896	0.81[ASN][1000 genomes]
rs1563897	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1975875	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1979325	0.95[ASN][1000 genomes]
rs2035081	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2035082	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290893	0.83[EUR][1000 genomes]
rs2290894	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926741	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2926743	0.95[ASN][1000 genomes]
rs2926747	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2926748	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2958127	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2958130	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958132	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958134	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2958148	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2958149	0.92[ASN][1000 genomes]
rs2958155	0.80[EUR][1000 genomes]
rs3214051	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759256	0.88[ASN][1000 genomes]
rs4788	0.95[ASN][1000 genomes]
rs4902	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7137749	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7295862	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7313074	0.88[ASN][1000 genomes]
rs7966391	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967600	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978685	0.95[ASN][1000 genomes]
rs7980317	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7980835	0.83[EUR][1000 genomes]
rs898609	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs898611	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	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:121 , 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	chr12:57119600-57125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:57119600-57125200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:57119600-57128800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:57119600-57129000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:57119600-57130600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:57119600-57130600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:57119600-57130600	Weak transcription	Lung	lung
15	chr12:57119600-57130600	Weak transcription	Pancreas	Pancrea
16	chr12:57119800-57125400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:57119800-57128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:57119800-57130400	Weak transcription	Ovary	ovary
19	chr12:57119800-57131800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:57119800-57134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:57119800-57134000	Weak transcription	Left Ventricle	heart
22	chr12:57119800-57144600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr12:57119800-57144800	Weak transcription	NHLF	lung
24	chr12:57119800-57145000	Weak transcription	Colonic Mucosa	Colon
25	chr12:57119800-57145000	Weak transcription	Right Ventricle	heart
26	chr12:57120000-57124600	Weak transcription	A549	lung
27	chr12:57120000-57124800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:57120000-57124800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:57120000-57124800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:57120000-57125200	Weak transcription	GM12878-XiMat	blood
31	chr12:57120000-57125400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:57120000-57125400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:57120000-57125400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr12:57120000-57125600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr12:57120000-57125600	Weak transcription	Brain Anterior Caudate	brain
36	chr12:57120000-57125600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:57120000-57125600	Weak transcription	HepG2	liver
38	chr12:57120000-57125800	Weak transcription	Brain Hippocampus Middle	brain
39	chr12:57120000-57126200	Weak transcription	HMEC	breast
40	chr12:57120000-57127600	Weak transcription	Fetal Lung	lung
41	chr12:57120000-57128200	Weak transcription	Thymus	Thymus
42	chr12:57120000-57129200	Weak transcription	Fetal Intestine Large	intestine
43	chr12:57120000-57130400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:57120000-57130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:57120000-57130400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:57120000-57130600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:57120000-57130600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:57120000-57130800	Weak transcription	Placenta	Placenta
49	chr12:57120000-57130800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:57120000-57131600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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