Variant report

Variant	rs62345009
Chromosome Location	chr5:14370095-14370096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10866506	0.86[EUR][1000 genomes]
rs10866507	0.86[EUR][1000 genomes]
rs11133785	0.81[EUR][1000 genomes]
rs11949756	0.84[EUR][1000 genomes]
rs11950000	0.84[EUR][1000 genomes]
rs11959397	0.95[EUR][1000 genomes]
rs12109453	0.84[EUR][1000 genomes]
rs12109756	0.84[EUR][1000 genomes]
rs12109880	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12110161	0.84[EUR][1000 genomes]
rs12110267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903421	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903423	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903428	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903434	0.86[EUR][1000 genomes]
rs16903453	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	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57640930	0.84[EUR][1000 genomes]
rs59405120	0.86[EUR][1000 genomes]
rs60738268	0.95[EUR][1000 genomes]
rs60768136	0.81[EUR][1000 genomes]
rs60892841	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61059406	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61469842	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62344976	0.81[EUR][1000 genomes]
rs62344979	0.95[EUR][1000 genomes]
rs62344981	0.93[EUR][1000 genomes]
rs62344983	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344984	0.84[EUR][1000 genomes]
rs62345012	0.86[EUR][1000 genomes]
rs62345015	0.84[EUR][1000 genomes]
rs66554336	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs730185	0.84[EUR][1000 genomes]
rs73061636	0.84[EUR][1000 genomes]
rs7706484	0.86[EUR][1000 genomes]
rs7710935	0.81[EUR][1000 genomes]
rs7715916	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14350400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14354400-14374800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:14354600-14402400	Strong transcription	Liver	Liver
7	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
8	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr5:14355600-14375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:14356400-14373800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:14356800-14370200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:14356800-14376000	Strong transcription	HepG2	liver
13	chr5:14357000-14370400	Strong transcription	Fetal Intestine Small	intestine
14	chr5:14357000-14371200	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr5:14357000-14374000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:14357000-14376400	Strong transcription	NHLF	lung
17	chr5:14357000-14376600	Strong transcription	Duodenum Mucosa	Duodenum
18	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
19	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:14358000-14373800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr5:14358000-14377000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
25	chr5:14358200-14375800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
27	chr5:14358400-14371200	Strong transcription	Fetal Brain Female	brain
28	chr5:14358400-14374200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:14358400-14374600	Strong transcription	Fetal Stomach	stomach
30	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
31	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
32	chr5:14358600-14373600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:14358600-14374000	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:14358800-14373200	Strong transcription	NHDF-Ad	bronchial
36	chr5:14358800-14375600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:14360000-14373800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr5:14363400-14373800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr5:14363600-14374800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:14363600-14386000	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:14363800-14370200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr5:14363800-14370200	Strong transcription	Pancreas	Pancrea
45	chr5:14363800-14370200	Strong transcription	Spleen	Spleen
46	chr5:14363800-14370600	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr5:14363800-14370800	Strong transcription	Fetal Lung	lung
48	chr5:14363800-14371000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:14363800-14371400	Strong transcription	Brain Hippocampus Middle	brain
50	chr5:14363800-14373800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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