Variant report

Variant	rs73749082
Chromosome Location	chr5:14351443-14351444
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	chr5:14340281..14342656-chr5:14350736..14353309,2	MCF-7	breast:
2	chr5:14350928..14352625-chr5:14364251..14366443,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10062034	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076925	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903350	0.83[AMR][1000 genomes]
rs16903399	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903467	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55750919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55754427	1.00[AMR][1000 genomes]
rs55773296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56114434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56141029	1.00[AMR][1000 genomes]
rs56227025	1.00[AMR][1000 genomes]
rs56664186	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56712870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57560019	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57974400	1.00[AMR][1000 genomes]
rs58324829	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58443103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58716074	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58897996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59499572	0.83[AMR][1000 genomes]
rs59853866	1.00[AMR][1000 genomes]
rs60077210	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568524	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61180647	0.83[AMR][1000 genomes]
rs61396062	1.00[AMR][1000 genomes]
rs61509800	0.83[AMR][1000 genomes]
rs6868596	0.83[AMR][1000 genomes]
rs73748806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73748810	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73748811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749083	1.00[AMR][1000 genomes]
rs73749085	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749234	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73751307	0.83[AMR][1000 genomes]
rs73751311	0.83[AMR][1000 genomes]
rs73751318	0.83[AMR][1000 genomes]
rs73751322	1.00[AMR][1000 genomes]
rs73751323	1.00[AMR][1000 genomes]
rs73751327	0.83[AMR][1000 genomes]
rs73751329	1.00[AMR][1000 genomes]
rs73751335	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751336	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751337	1.00[AMR][1000 genomes]
rs73751338	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751339	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73751340	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7703674	0.83[AMR][1000 genomes]
rs7705426	0.83[AMR][1000 genomes]
rs7713114	0.83[AMR][1000 genomes]
rs7716460	1.00[AMR][1000 genomes]
rs7723309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724084	0.80[AFR][1000 genomes];1.00[AMR][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
2	chr5:14338000-14357200	Weak transcription	Colonic Mucosa	Colon
3	chr5:14338400-14358000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:14338800-14357600	Weak transcription	Esophagus	oesophagus
5	chr5:14339200-14357600	Weak transcription	Gastric	stomach
6	chr5:14339200-14358000	Weak transcription	Thymus	Thymus
7	chr5:14339200-14358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:14339400-14358400	Weak transcription	Fetal Thymus	thymus
9	chr5:14340400-14353800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr5:14340800-14353600	Strong transcription	HSMM	muscle
11	chr5:14341400-14355000	Weak transcription	Ovary	ovary
12	chr5:14341400-14359400	Weak transcription	Primary T cells from cord blood	blood
13	chr5:14341600-14357400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:14342600-14357200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:14342600-14358200	Weak transcription	Pancreas	Pancrea
16	chr5:14342800-14351600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:14342800-14352000	Strong transcription	Osteobl	bone
18	chr5:14342800-14352200	Strong transcription	NH-A	brain
19	chr5:14342800-14354000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:14342800-14355000	Weak transcription	Right Ventricle	heart
21	chr5:14342800-14357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:14342800-14357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
24	chr5:14343200-14351600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:14343200-14358800	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:14343400-14352400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:14343400-14357000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:14343600-14357000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:14343600-14357600	Weak transcription	Brain Anterior Caudate	brain
30	chr5:14343800-14362400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:14344400-14358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr5:14345000-14355000	Weak transcription	Left Ventricle	heart
33	chr5:14345400-14353800	Weak transcription	Hela-S3	cervix
34	chr5:14346000-14351800	Strong transcription	Fetal Muscle Trunk	muscle
35	chr5:14346200-14352000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:14346200-14352200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:14346200-14352400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:14347000-14356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:14347000-14358800	Weak transcription	Fetal Lung	lung
40	chr5:14347200-14352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr5:14347200-14353800	Weak transcription	HUVEC	blood vessel
42	chr5:14347200-14355000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:14347200-14356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:14347200-14357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:14348400-14352000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:14348400-14354800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:14348400-14357400	Weak transcription	Placenta	Placenta
48	chr5:14348400-14357400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr5:14348600-14359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:14348800-14355200	Weak transcription	Colon Smooth Muscle	Colon

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