Variant report

Variant	rs62344983
Chromosome Location	chr5:14360722-14360723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14352731..14355995-chr5:14358192..14360864,3	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10866506	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10866507	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11133785	0.85[EUR][1000 genomes]
rs11949756	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11950000	0.89[EUR][1000 genomes]
rs11959397	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12109453	0.89[EUR][1000 genomes]
rs12109756	0.89[EUR][1000 genomes]
rs12109880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12110161	0.89[EUR][1000 genomes]
rs12110267	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903421	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903423	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903428	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903434	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16903453	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16903460	0.89[EUR][1000 genomes]
rs16903464	0.89[EUR][1000 genomes]
rs35373258	0.89[EUR][1000 genomes]
rs56689214	0.89[EUR][1000 genomes]
rs57017859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57640930	0.89[EUR][1000 genomes]
rs59405120	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60738268	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60768136	0.85[EUR][1000 genomes]
rs60892841	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61059406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469842	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.85[EUR][1000 genomes]
rs62344979	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344981	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62344984	0.88[EUR][1000 genomes]
rs62345009	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62345012	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62345015	0.89[EUR][1000 genomes]
rs66554336	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs730185	0.88[EUR][1000 genomes]
rs73061636	0.89[EUR][1000 genomes]
rs7706484	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7710935	0.85[EUR][1000 genomes]
rs7715916	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7731443	0.85[EUR][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	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
2	chr5:14343800-14362400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:14353600-14366200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:14354600-14402400	Strong transcription	Liver	Liver
10	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
11	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr5:14355400-14365200	Strong transcription	HSMM	muscle
13	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:14356000-14362400	Strong transcription	Osteobl	bone
15	chr5:14356000-14366200	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr5:14356400-14365400	Strong transcription	NHEK	skin
17	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:14356600-14363800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:14356600-14365200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:14356800-14370200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:14356800-14376000	Strong transcription	HepG2	liver
22	chr5:14357000-14370400	Strong transcription	Fetal Intestine Small	intestine
23	chr5:14357000-14371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:14357000-14374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr5:14357000-14376400	Strong transcription	NHLF	lung
26	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:14357200-14361200	Strong transcription	Colonic Mucosa	Colon
28	chr5:14357200-14362200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:14357400-14361600	Strong transcription	Placenta	Placenta
30	chr5:14357600-14361000	Strong transcription	Esophagus	oesophagus
31	chr5:14357600-14361600	Strong transcription	Aorta	Aorta
32	chr5:14357600-14361800	Strong transcription	Ovary	ovary
33	chr5:14357600-14362400	Strong transcription	Gastric	stomach
34	chr5:14357600-14363000	Strong transcription	A549	lung
35	chr5:14357600-14365200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
37	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:14358000-14361000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:14358000-14361600	Strong transcription	Thymus	Thymus
41	chr5:14358000-14373800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
45	chr5:14358200-14360800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:14358200-14361400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:14358200-14362000	Strong transcription	Pancreas	Pancrea
48	chr5:14358200-14362400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:14358200-14362800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:14358200-14366000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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