Variant report

Variant	rs8020670
Chromosome Location	chr14:31441170-31441171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10872847	1.00[YRI][hapmap]
rs1121875	1.00[YRI][hapmap]
rs11625404	1.00[YRI][hapmap]
rs1474801	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs179697	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs179703	0.84[AFR][1000 genomes]
rs2024661	1.00[YRI][hapmap]
rs2179933	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2378814	1.00[YRI][hapmap]
rs4354834	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4981800	1.00[YRI][hapmap]
rs6571371	1.00[YRI][hapmap]
rs6571373	0.84[AFR][1000 genomes]
rs6571379	0.84[AFR][1000 genomes]
rs7150937	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7156647	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7350756	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8011685	1.00[YRI][hapmap]
rs9671708	1.00[YRI][hapmap];0.84[AFR][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:82 , 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	chr14:31436000-31441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:31436000-31442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:31436000-31442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:31436200-31441400	Weak transcription	Aorta	Aorta
10	chr14:31436200-31441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:31436200-31441800	Weak transcription	Ovary	ovary
12	chr14:31436200-31442200	Weak transcription	Pancreas	Pancrea
13	chr14:31436200-31442200	Weak transcription	Hela-S3	cervix
14	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:31436400-31441200	Weak transcription	Colonic Mucosa	Colon
21	chr14:31436400-31441400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:31436400-31441400	Weak transcription	Esophagus	oesophagus
23	chr14:31436400-31441400	Weak transcription	Gastric	stomach
24	chr14:31436400-31442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:31436400-31442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr14:31436400-31442200	Weak transcription	Adipose Nuclei	Adipose
27	chr14:31436400-31442200	Weak transcription	Lung	lung
28	chr14:31436400-31442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:31436400-31442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:31436400-31457200	Weak transcription	HSMM	muscle
36	chr14:31436400-31457800	Weak transcription	NHEK	skin
37	chr14:31436600-31442200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:31436800-31441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:31436800-31441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:31437400-31443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:31439000-31444400	Enhancers	HepG2	liver
44	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
45	chr14:31439600-31441600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr14:31439800-31442000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr14:31439800-31442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:31439800-31443400	Weak transcription	GM12878-XiMat	blood
50	chr14:31440000-31441200	Enhancers	H1 Cell Line	embryonic stem cell

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