Variant report

Variant	rs62344981
Chromosome Location	chr5:14348593-14348594
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10866506	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10866507	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11133785	0.83[EUR][1000 genomes]
rs11949756	0.86[EUR][1000 genomes]
rs11950000	0.86[EUR][1000 genomes]
rs11959397	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12109453	0.86[EUR][1000 genomes]
rs12109756	0.86[EUR][1000 genomes]
rs12109880	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12110161	0.86[EUR][1000 genomes]
rs12110267	0.98[EUR][1000 genomes]
rs16903421	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16903423	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16903428	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16903434	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16903453	0.86[EUR][1000 genomes]
rs16903460	0.86[EUR][1000 genomes]
rs16903464	0.86[EUR][1000 genomes]
rs35373258	0.86[EUR][1000 genomes]
rs56689214	0.86[EUR][1000 genomes]
rs57017859	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57640930	0.86[EUR][1000 genomes]
rs59405120	0.88[EUR][1000 genomes]
rs60738268	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60768136	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60892841	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61059406	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61469842	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62344976	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62344979	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62344983	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62344984	0.86[EUR][1000 genomes]
rs62345009	0.93[EUR][1000 genomes]
rs62345012	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62345015	0.86[EUR][1000 genomes]
rs66554336	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs730185	0.86[EUR][1000 genomes]
rs73061636	0.86[EUR][1000 genomes]
rs7706484	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7710935	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7715916	0.86[EUR][1000 genomes]
rs7731443	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	esv3366769	chr5:14346079-14348744	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3342821	chr5:14346652-14351350	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1935262	chr5:14348592-14348594	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14319200-14349400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:14331400-14350000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:14334000-14349400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:14335000-14360600	Weak transcription	Psoas Muscle	Psoas
5	chr5:14335200-14348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:14336400-14349400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:14338000-14357200	Weak transcription	Colonic Mucosa	Colon
8	chr5:14338400-14358000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:14338800-14357600	Weak transcription	Esophagus	oesophagus
10	chr5:14339200-14357600	Weak transcription	Gastric	stomach
11	chr5:14339200-14358000	Weak transcription	Thymus	Thymus
12	chr5:14339200-14358200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:14339400-14358400	Weak transcription	Fetal Thymus	thymus
14	chr5:14339800-14348800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr5:14340400-14353800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr5:14340800-14353600	Strong transcription	HSMM	muscle
17	chr5:14341200-14350400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:14341400-14355000	Weak transcription	Ovary	ovary
19	chr5:14341400-14359400	Weak transcription	Primary T cells from cord blood	blood
20	chr5:14341600-14348600	Weak transcription	Aorta	Aorta
21	chr5:14341600-14357400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:14342600-14357200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:14342600-14358200	Weak transcription	Pancreas	Pancrea
24	chr5:14342800-14348600	Weak transcription	Spleen	Spleen
25	chr5:14342800-14350000	Weak transcription	Brain Germinal Matrix	brain
26	chr5:14342800-14351000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:14342800-14351600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:14342800-14352000	Strong transcription	Osteobl	bone
29	chr5:14342800-14352200	Strong transcription	NH-A	brain
30	chr5:14342800-14354000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:14342800-14355000	Weak transcription	Right Ventricle	heart
32	chr5:14342800-14357200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:14342800-14357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:14342800-14365200	Weak transcription	Small Intestine	intestine
35	chr5:14343000-14349400	Strong transcription	HSMMtube	muscle
36	chr5:14343000-14351200	Strong transcription	Fetal Intestine Large	intestine
37	chr5:14343200-14351600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:14343200-14358800	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:14343400-14349000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:14343400-14352400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:14343400-14357000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:14343600-14349000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:14343600-14349200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:14343600-14350600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:14343600-14350600	Weak transcription	Lung	lung
46	chr5:14343600-14351200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:14343600-14351200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr5:14343600-14357000	Weak transcription	Brain Angular Gyrus	brain
49	chr5:14343600-14357600	Weak transcription	Brain Anterior Caudate	brain
50	chr5:14343800-14348800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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