Variant report

Variant	rs62000711
Chromosome Location	chr14:39826991-39826992
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10047876	0.91[AFR][1000 genomes]
rs10130181	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10132190	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10133746	0.91[AFR][1000 genomes]
rs10134065	0.88[ASN][1000 genomes]
rs10136915	0.83[AFR][1000 genomes]
rs10140997	0.83[AMR][1000 genomes]
rs10142029	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143148	0.91[AFR][1000 genomes]
rs10144377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10145757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146106	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10146622	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10220689	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10483538	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12185014	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12433987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17109168	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17622868	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2103795	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2179973	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28398804	0.81[ASN][1000 genomes]
rs28419351	0.81[ASN][1000 genomes]
rs28454173	0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28568594	0.81[ASN][1000 genomes]
rs28571663	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28630597	0.83[AFR][1000 genomes]
rs28704775	0.81[ASN][1000 genomes]
rs28756493	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28823387	0.83[AMR][1000 genomes]
rs28871954	0.81[ASN][1000 genomes]
rs2899887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4316662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902559	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61999073	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61999077	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61999079	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62000686	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62000696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000710	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62000720	0.82[ASN][1000 genomes]
rs62001106	0.81[ASN][1000 genomes]
rs62015674	0.91[AFR][1000 genomes]
rs62015677	0.91[AFR][1000 genomes]
rs7146753	0.81[ASN][1000 genomes]
rs7156962	0.88[ASN][1000 genomes]
rs7158282	0.88[ASN][1000 genomes]
rs7161482	0.91[AFR][1000 genomes]
rs8006076	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007036	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9322999	0.88[ASN][1000 genomes]
rs9805937	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
4	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
5	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
6	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
8	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
10	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
11	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
13	chr14:39802800-39828400	Weak transcription	Ovary	ovary
14	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
15	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:39802800-39835400	Weak transcription	Gastric	stomach
17	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
18	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
19	chr14:39803000-39845800	Weak transcription	NHEK	skin
20	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
22	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:39803400-39843800	Weak transcription	HMEC	breast
25	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
26	chr14:39808400-39828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:39808400-39828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:39808600-39828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:39808600-39828800	Weak transcription	Fetal Heart	heart
31	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr14:39809800-39828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
35	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr14:39812400-39833600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:39815600-39832800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
40	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
41	chr14:39817200-39835400	Weak transcription	Fetal Stomach	stomach
42	chr14:39817400-39828400	Weak transcription	Lung	lung
43	chr14:39817400-39835400	Weak transcription	Left Ventricle	heart
44	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:39817600-39828400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:39817600-39828400	Weak transcription	Fetal Intestine Small	intestine
47	chr14:39817600-39833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:39818200-39832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:39818200-39833200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:39818200-39833600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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