Variant report

Variant	rs61469842
Chromosome Location	chr5:14354600-14354601
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14352731..14355995-chr5:14358192..14360864,3	MCF-7	breast:
2	chr5:14352603..14355508-chr5:14358739..14360493,2	MCF-7	breast:
3	chr2:137418859..137421677-chr5:14353000..14355582,2	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];0.86[EUR][1000 genomes]
rs10866507	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11133785	0.81[EUR][1000 genomes]
rs11949756	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11950000	0.84[EUR][1000 genomes]
rs11959397	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12109453	0.84[EUR][1000 genomes]
rs12109756	0.84[EUR][1000 genomes]
rs12109880	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12110161	0.84[EUR][1000 genomes]
rs12110267	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903421	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903423	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903428	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903434	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16903453	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16903460	0.84[EUR][1000 genomes]
rs16903464	0.84[EUR][1000 genomes]
rs35373258	0.84[EUR][1000 genomes]
rs56689214	0.84[EUR][1000 genomes]
rs57017859	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57640930	0.84[EUR][1000 genomes]
rs59405120	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60738268	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60768136	0.81[EUR][1000 genomes]
rs60892841	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61059406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.81[EUR][1000 genomes]
rs62344979	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344981	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62344983	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344984	0.84[EUR][1000 genomes]
rs62345009	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62345012	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62345015	0.84[EUR][1000 genomes]
rs66554336	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs730185	0.84[EUR][1000 genomes]
rs73061636	0.84[EUR][1000 genomes]
rs7706484	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7710935	0.81[EUR][1000 genomes]
rs7715916	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7731443	0.81[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:114 , 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	chr5:14341400-14355000	Weak transcription	Ovary	ovary
10	chr5:14341400-14359400	Weak transcription	Primary T cells from cord blood	blood
11	chr5:14341600-14357400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:14342600-14357200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:14342600-14358200	Weak transcription	Pancreas	Pancrea
14	chr5:14342800-14355000	Weak transcription	Right Ventricle	heart
15	chr5:14342800-14357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:14342800-14357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
18	chr5:14343200-14358800	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:14343400-14357000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:14343600-14357000	Weak transcription	Brain Angular Gyrus	brain
21	chr5:14343600-14357600	Weak transcription	Brain Anterior Caudate	brain
22	chr5:14343800-14362400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:14344400-14358000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:14345000-14355000	Weak transcription	Left Ventricle	heart
25	chr5:14347000-14356400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr5:14347000-14358800	Weak transcription	Fetal Lung	lung
27	chr5:14347200-14355000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:14347200-14356600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr5:14347200-14357400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:14348400-14354800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:14348400-14357400	Weak transcription	Placenta	Placenta
32	chr5:14348400-14357400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:14348600-14359800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:14348800-14355200	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:14348800-14357000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:14348800-14358600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:14349000-14358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:14349200-14356800	Weak transcription	Spleen	Spleen
39	chr5:14349200-14357200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:14349400-14354800	Weak transcription	Fetal Brain Male	brain
41	chr5:14349400-14357600	Weak transcription	Aorta	Aorta
42	chr5:14349400-14360000	Weak transcription	Fetal Kidney	kidney
43	chr5:14349600-14354800	Weak transcription	NHDF-Ad	bronchial
44	chr5:14349600-14355600	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:14349600-14356400	Weak transcription	NHEK	skin
46	chr5:14350200-14355600	Strong transcription	Fetal Intestine Small	intestine
47	chr5:14350400-14355000	Weak transcription	Adipose Nuclei	Adipose
48	chr5:14350400-14356800	Weak transcription	HepG2	liver
49	chr5:14350400-14357000	Weak transcription	Brain Germinal Matrix	brain
50	chr5:14350400-14358800	Weak transcription	HMEC	breast

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