Variant report

Variant	rs12420122
Chromosome Location	chr11:10262302-10262303
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10254716..10258095-chr11:10261173..10265097,3	K562	blood:
2	chr11:10260654..10262324-chr11:10295566..10297220,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10160763	0.84[ASN][1000 genomes]
rs10770103	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840375	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10840377	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042595	0.81[EUR][1000 genomes]
rs11042601	0.83[EUR][1000 genomes]
rs11042609	0.83[EUR][1000 genomes]
rs11042615	0.83[EUR][1000 genomes]
rs11042618	0.83[EUR][1000 genomes]
rs11042623	0.83[EUR][1000 genomes]
rs11042632	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042641	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042683	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1114426	0.92[ASN][1000 genomes]
rs11600251	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11600489	0.87[EUR][1000 genomes]
rs11606561	0.86[EUR][1000 genomes]
rs11607682	0.83[EUR][1000 genomes]
rs11607703	0.83[EUR][1000 genomes]
rs12360783	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12362060	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362938	0.84[EUR][1000 genomes]
rs12416695	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12417184	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12418212	0.83[EUR][1000 genomes]
rs12418514	0.81[EUR][1000 genomes]
rs12418619	0.83[EUR][1000 genomes]
rs12420734	0.84[EUR][1000 genomes]
rs12421096	0.83[EUR][1000 genomes]
rs12421179	0.83[EUR][1000 genomes]
rs12421931	0.83[EUR][1000 genomes]
rs1372808	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1372811	0.92[ASN][1000 genomes]
rs1442737	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17359113	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1822291	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822292	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1822293	0.92[ASN][1000 genomes]
rs1837978	0.92[ASN][1000 genomes]
rs1867135	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044142	0.81[AFR][1000 genomes]
rs2197171	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2403291	0.92[ASN][1000 genomes]
rs2403292	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28731164	0.83[EUR][1000 genomes]
rs2957652	0.81[AFR][1000 genomes]
rs34596876	0.81[AFR][1000 genomes]
rs34683105	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35246982	0.91[ASN][1000 genomes]
rs35269701	1.00[ASN][1000 genomes]
rs35380986	0.91[ASN][1000 genomes]
rs4271380	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4281477	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4345958	0.81[EUR][1000 genomes]
rs4385889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519084	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4643073	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910095	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4910098	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4910101	0.92[ASN][1000 genomes]
rs4910102	0.92[ASN][1000 genomes]
rs4910110	0.84[ASN][1000 genomes]
rs4910111	0.84[ASN][1000 genomes]
rs55788918	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55796222	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56853694	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61878582	0.84[EUR][1000 genomes]
rs61878587	0.83[EUR][1000 genomes]
rs61878622	0.83[EUR][1000 genomes]
rs61878636	0.83[EUR][1000 genomes]
rs61889838	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7110151	0.84[ASN][1000 genomes]
rs7123453	0.86[EUR][1000 genomes]
rs7123820	0.81[EUR][1000 genomes]
rs7124401	0.84[ASN][1000 genomes]
rs7924875	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7928959	0.80[EUR][1000 genomes]
rs7935774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935934	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7938491	0.88[EUR][1000 genomes]
rs7938647	0.81[EUR][1000 genomes]
rs7945980	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7947306	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7948215	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950447	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3488360	chr11:10258876-10262474	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3488365	chr11:10259326-10262324	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:10254000-10263400	Weak transcription	Ovary	ovary
5	chr11:10254000-10276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:10254400-10277400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:10254600-10265800	Weak transcription	Fetal Lung	lung
8	chr11:10254600-10268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:10255600-10268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:10255600-10277200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:10255600-10279000	Weak transcription	Small Intestine	intestine
14	chr11:10255800-10266200	Weak transcription	Osteobl	bone
15	chr11:10255800-10268400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:10255800-10277400	Weak transcription	HSMM	muscle
17	chr11:10256000-10265600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:10256000-10270800	Weak transcription	NH-A	brain
19	chr11:10256400-10268400	Weak transcription	NHLF	lung
20	chr11:10256600-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:10256600-10269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:10257800-10266400	Weak transcription	Fetal Stomach	stomach
23	chr11:10257800-10269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:10258000-10266400	Weak transcription	Fetal Intestine Small	intestine
25	chr11:10259000-10263400	Weak transcription	Adipose Nuclei	Adipose
26	chr11:10259000-10266400	Weak transcription	Right Ventricle	heart
27	chr11:10259000-10268400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:10259200-10266400	Weak transcription	Aorta	Aorta
29	chr11:10259200-10280200	Weak transcription	A549	lung
30	chr11:10259400-10268200	Weak transcription	Lung	lung
31	chr11:10260000-10263400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:10260000-10266400	Weak transcription	Gastric	stomach
33	chr11:10260000-10266400	Weak transcription	Left Ventricle	heart
34	chr11:10260000-10267800	Weak transcription	Esophagus	oesophagus
35	chr11:10260200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:10260200-10266400	Weak transcription	Pancreas	Pancrea
37	chr11:10261800-10268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:10262000-10262400	Enhancers	NHDF-Ad	bronchial
39	chr11:10262000-10263400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:10262200-10263400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:10262200-10264000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:10262200-10264000	Weak transcription	NHEK	skin
43	chr11:10262200-10267400	Weak transcription	Hela-S3	cervix
44	chr11:10262200-10268200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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