Variant report

Variant	rs72668381
Chromosome Location	chr14:31439528-31439529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10459471	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483356	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483359	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11625390	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627379	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17097531	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17097608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097617	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1977130	0.83[AMR][1000 genomes]
rs2064823	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2073204	1.00[AFR][1000 genomes]
rs2281563	0.97[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2378815	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784158	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55708493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55843943	0.83[AMR][1000 genomes]
rs56136496	0.83[AMR][1000 genomes]
rs60862458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60990438	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61129484	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571374	0.83[AMR][1000 genomes]
rs7140551	0.83[AMR][1000 genomes]
rs72670303	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8008526	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3429977	chr14:31435166-31441360	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
4	chr14:31435800-31442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:31436000-31439600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:31436000-31441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:31436000-31442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:31436000-31442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:31436200-31439600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31436200-31439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:31436200-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:31436200-31439800	Weak transcription	Brain Angular Gyrus	brain
14	chr14:31436200-31440000	Weak transcription	Left Ventricle	heart
15	chr14:31436200-31441400	Weak transcription	Aorta	Aorta
16	chr14:31436200-31441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr14:31436200-31441800	Weak transcription	Ovary	ovary
18	chr14:31436200-31442200	Weak transcription	Pancreas	Pancrea
19	chr14:31436200-31442200	Weak transcription	Hela-S3	cervix
20	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:31436400-31439600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:31436400-31440000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:31436400-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:31436400-31440800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:31436400-31441000	Weak transcription	Stomach Mucosa	stomach
31	chr14:31436400-31441200	Weak transcription	Colonic Mucosa	Colon
32	chr14:31436400-31441400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr14:31436400-31441400	Weak transcription	Esophagus	oesophagus
34	chr14:31436400-31441400	Weak transcription	Gastric	stomach
35	chr14:31436400-31442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:31436400-31442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr14:31436400-31442200	Weak transcription	Adipose Nuclei	Adipose
38	chr14:31436400-31442200	Weak transcription	Lung	lung
39	chr14:31436400-31442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:31436400-31442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:31436400-31457200	Weak transcription	HSMM	muscle
47	chr14:31436400-31457800	Weak transcription	NHEK	skin
48	chr14:31436600-31440800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:31436600-31442200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:31436800-31439600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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