Variant report

Variant	rs11750589
Chromosome Location	chr5:60651929-60651930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60644363..60646170-chr5:60651907..60654298,2	MCF-7	breast:
2	chr5:60651615..60653300-chr5:60658168..60660335,2	MCF-7	breast:
3	chr5:60628335..60630903-chr5:60650780..60653368,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10041978	0.85[ASN][1000 genomes]
rs10939900	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939901	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939902	0.98[ASN][1000 genomes]
rs10939903	0.85[ASN][1000 genomes]
rs11743711	0.87[ASN][1000 genomes]
rs11950318	0.83[ASN][1000 genomes]
rs11954430	0.81[ASN][1000 genomes]
rs12187112	0.93[ASN][1000 genomes]
rs12188627	0.92[ASN][1000 genomes]
rs12189001	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12518479	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12520628	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12522647	0.85[ASN][1000 genomes]
rs13157657	0.81[ASN][1000 genomes]
rs13158675	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13160801	0.81[ASN][1000 genomes]
rs13162358	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13163970	0.81[ASN][1000 genomes]
rs13169711	0.99[ASN][1000 genomes]
rs13170135	0.96[ASN][1000 genomes]
rs13170262	0.81[ASN][1000 genomes]
rs13171757	0.87[ASN][1000 genomes]
rs13172080	0.81[ASN][1000 genomes]
rs13178686	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13181015	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186194	0.84[ASN][1000 genomes]
rs13188327	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1348716	0.81[ASN][1000 genomes]
rs1374043	0.81[ASN][1000 genomes]
rs1445979	0.85[ASN][1000 genomes]
rs1477355	0.85[ASN][1000 genomes]
rs1986252	0.81[ASN][1000 genomes]
rs28610339	0.98[ASN][1000 genomes]
rs34739794	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35262187	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4276369	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4392578	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4484384	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4604142	0.99[ASN][1000 genomes]
rs5027472	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56035042	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60529601	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60886975	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62368660	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6449528	0.99[ASN][1000 genomes]
rs6449529	0.99[ASN][1000 genomes]
rs6449530	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6449531	0.98[ASN][1000 genomes]
rs6449532	0.98[ASN][1000 genomes]
rs6449533	0.98[ASN][1000 genomes]
rs6449535	0.85[ASN][1000 genomes]
rs6860608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6877610	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881765	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6885005	0.98[ASN][1000 genomes]
rs6894675	0.98[ASN][1000 genomes]
rs6895046	0.81[ASN][1000 genomes]
rs7700289	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7701440	0.94[ASN][1000 genomes]
rs7709645	0.98[ASN][1000 genomes]
rs7714457	0.81[ASN][1000 genomes]
rs7714712	0.98[ASN][1000 genomes]
rs7717082	0.81[ASN][1000 genomes]
rs7719647	0.81[ASN][1000 genomes]
rs7722810	0.86[ASN][1000 genomes]
rs7724551	0.96[ASN][1000 genomes]
rs7727824	0.98[ASN][1000 genomes]
rs7734879	0.98[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	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60631400-60652800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60638200-60653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:60638400-60653000	Weak transcription	NHEK	skin
4	chr5:60638400-60655000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:60638400-60665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:60640400-60652800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:60640400-60665600	Weak transcription	Gastric	stomach
8	chr5:60640600-60658400	Weak transcription	Fetal Brain Female	brain
9	chr5:60640600-60658400	Weak transcription	NHLF	lung
10	chr5:60641600-60667400	Weak transcription	Fetal Kidney	kidney
11	chr5:60643200-60653000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:60643200-60658400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:60643400-60652800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:60643400-60652800	Weak transcription	NHDF-Ad	bronchial
15	chr5:60643400-60660800	Weak transcription	Esophagus	oesophagus
16	chr5:60643400-60663200	Weak transcription	Spleen	Spleen
17	chr5:60643600-60652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:60646600-60658400	Weak transcription	HSMMtube	muscle
19	chr5:60647200-60653200	Weak transcription	HSMM	muscle
20	chr5:60647800-60655200	Weak transcription	Small Intestine	intestine
21	chr5:60648000-60652000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:60648000-60658400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:60648200-60652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:60648200-60658200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr5:60648200-60664600	Weak transcription	Aorta	Aorta
26	chr5:60648800-60652000	Weak transcription	Lung	lung
27	chr5:60648800-60653000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:60649000-60653000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:60649000-60666400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:60649200-60653200	Weak transcription	Adipose Nuclei	Adipose
31	chr5:60649200-60656600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:60649400-60652800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:60649400-60664400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:60649600-60654200	Weak transcription	Fetal Heart	heart
35	chr5:60650000-60652800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:60650000-60652800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:60650000-60654600	Weak transcription	Left Ventricle	heart
38	chr5:60650000-60654600	Weak transcription	Pancreas	Pancrea
39	chr5:60650000-60655000	Weak transcription	Right Atrium	heart
40	chr5:60650000-60658200	Weak transcription	Psoas Muscle	Psoas
41	chr5:60650000-60658400	Weak transcription	Right Ventricle	heart
42	chr5:60650000-60659000	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:60650000-60664600	Weak transcription	Ovary	ovary
44	chr5:60650200-60652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:60650200-60652800	Weak transcription	A549	lung
46	chr5:60650200-60655400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:60650600-60656000	Weak transcription	Brain Angular Gyrus	brain
48	chr5:60651000-60652200	Enhancers	Fetal Brain Male	brain
49	chr5:60651200-60653200	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:60651200-60654400	Weak transcription	Brain Anterior Caudate	brain

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