Variant report

Variant	rs11950318
Chromosome Location	chr5:60735662-60735663
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60734169..60736983-chr5:60739460..60742166,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10041978	0.94[ASN][1000 genomes]
rs1045352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10514910	0.81[CHB][hapmap]
rs10939900	0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10939901	0.84[ASN][1000 genomes]
rs10939902	0.86[ASN][1000 genomes]
rs10939903	0.94[ASN][1000 genomes]
rs10939905	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11742658	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11743711	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11747564	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11749200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11750589	0.83[ASN][1000 genomes]
rs11952146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11954430	0.89[ASN][1000 genomes]
rs12187112	0.95[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12188627	0.80[ASN][1000 genomes]
rs12188685	0.81[EUR][1000 genomes]
rs12189001	0.84[ASN][1000 genomes]
rs12518479	0.84[ASN][1000 genomes]
rs12519658	0.81[CHB][hapmap]
rs12520628	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12522647	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13156100	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13157657	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13157831	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13158413	0.84[ASN][1000 genomes]
rs13158675	0.84[ASN][1000 genomes]
rs13159018	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13159166	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13160801	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13162358	0.84[ASN][1000 genomes]
rs13162694	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13163970	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13166934	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13169711	0.84[ASN][1000 genomes]
rs13170135	0.82[ASN][1000 genomes]
rs13170262	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13171497	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13171757	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13172080	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13172084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13178686	0.84[ASN][1000 genomes]
rs13179091	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13179617	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13181015	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs13185068	0.87[ASN][1000 genomes]
rs13185783	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13186194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13188685	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1348716	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1363892	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1374043	0.89[ASN][1000 genomes]
rs1445976	0.87[ASN][1000 genomes]
rs1445979	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1445980	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1445981	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477355	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16892374	0.81[CHB][hapmap]
rs17424296	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1986252	0.89[ASN][1000 genomes]
rs2034239	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2053693	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2053694	0.87[ASN][1000 genomes]
rs2276987	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28610339	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34739794	0.82[ASN][1000 genomes]
rs35262187	0.84[ASN][1000 genomes]
rs4276369	0.80[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4392578	0.84[ASN][1000 genomes]
rs4484384	0.84[ASN][1000 genomes]
rs4604142	0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs55838118	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56035042	0.84[ASN][1000 genomes]
rs60529601	0.84[ASN][1000 genomes]
rs60886975	0.84[ASN][1000 genomes]
rs62368660	0.84[ASN][1000 genomes]
rs6449528	0.80[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6449529	0.84[ASN][1000 genomes]
rs6449530	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6449531	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6449532	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6449533	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6449535	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66775554	0.87[ASN][1000 genomes]
rs6860608	0.80[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6865624	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6873712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6874264	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6874266	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877610	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6878927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6879809	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6881765	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6881799	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6882136	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6885005	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6890351	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6894675	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6895046	0.89[ASN][1000 genomes]
rs6898746	0.86[ASN][1000 genomes]
rs7443602	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7700289	0.84[ASN][1000 genomes]
rs7701440	0.80[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7709645	0.86[ASN][1000 genomes]
rs7714457	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7714712	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7717082	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7719647	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7722810	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724551	0.80[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7727824	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7732234	0.84[ASN][1000 genomes]
rs7734879	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753894	chr5:60731458-60777345	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
3	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
6	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
8	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
9	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:60728400-60745400	Weak transcription	Ovary	ovary
11	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
12	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
13	chr5:60728800-60737600	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:60729000-60737000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:60730200-60737600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:60730400-60735800	Enhancers	Brain Substantia Nigra	brain
17	chr5:60731200-60737000	Enhancers	Brain Anterior Caudate	brain
18	chr5:60731600-60736600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:60732000-60737800	Enhancers	Brain Hippocampus Middle	brain
20	chr5:60732400-60736000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:60732400-60737200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:60732600-60736200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:60732600-60743000	Weak transcription	Aorta	Aorta
24	chr5:60733000-60745600	Weak transcription	Psoas Muscle	Psoas
25	chr5:60733400-60737400	Weak transcription	Gastric	stomach
26	chr5:60733400-60745200	Weak transcription	Pancreas	Pancrea
27	chr5:60733400-60745400	Weak transcription	Esophagus	oesophagus
28	chr5:60733400-60746800	Weak transcription	Left Ventricle	heart
29	chr5:60733600-60737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:60734200-60736600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr5:60734200-60738000	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:60734400-60737800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr5:60734600-60745200	Weak transcription	Osteobl	bone
34	chr5:60734800-60737600	Weak transcription	Fetal Brain Male	brain
35	chr5:60734800-60740600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:60735200-60736400	Weak transcription	A549	lung
37	chr5:60735200-60737000	Enhancers	NHEK	skin
38	chr5:60735200-60737800	Enhancers	Brain Angular Gyrus	brain
39	chr5:60735200-60745400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:60735400-60736200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:60735400-60737600	Enhancers	HMEC	breast
42	chr5:60735600-60737200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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