Variant report

Variant	rs1977130
Chromosome Location	chr14:31441765-31441766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10459469	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10483355	0.81[JPT][hapmap]
rs10483356	0.81[JPT][hapmap]
rs11623403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625390	0.83[AMR][1000 genomes]
rs11625978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11627379	0.83[AMR][1000 genomes]
rs17097531	0.81[JPT][hapmap]
rs17097608	0.83[AMR][1000 genomes]
rs17097614	0.83[AMR][1000 genomes]
rs2281563	0.80[AMR][1000 genomes]
rs2295129	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2378815	0.83[AMR][1000 genomes]
rs3784158	0.83[AMR][1000 genomes]
rs55708493	0.83[AMR][1000 genomes]
rs55843943	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136496	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57706775	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58307523	0.83[EUR][1000 genomes]
rs60862458	0.83[AMR][1000 genomes]
rs61976773	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976775	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976776	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976779	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976796	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976799	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6571374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67898509	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142163	0.82[YRI][hapmap]
rs7150316	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7150699	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72668381	0.83[AMR][1000 genomes]
rs72670303	0.83[AMR][1000 genomes]
rs8008526	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs8008780	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9671318	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr14:31436200-31441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31436200-31441800	Weak transcription	Ovary	ovary
11	chr14:31436200-31442200	Weak transcription	Pancreas	Pancrea
12	chr14:31436200-31442200	Weak transcription	Hela-S3	cervix
13	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:31436400-31442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr14:31436400-31442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:31436400-31442200	Weak transcription	Adipose Nuclei	Adipose
22	chr14:31436400-31442200	Weak transcription	Lung	lung
23	chr14:31436400-31442600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr14:31436400-31442800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:31436400-31443800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:31436400-31444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31436400-31444000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr14:31436400-31444600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:31436400-31457200	Weak transcription	HSMM	muscle
31	chr14:31436400-31457800	Weak transcription	NHEK	skin
32	chr14:31436600-31442200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:31436800-31441800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:31436800-31441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:31436800-31444200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr14:31437400-31443000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr14:31439000-31444400	Enhancers	HepG2	liver
39	chr14:31439000-31445800	Enhancers	Colon Smooth Muscle	Colon
40	chr14:31439600-31444600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr14:31439800-31442000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:31439800-31442400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:31439800-31443400	Weak transcription	GM12878-XiMat	blood
44	chr14:31440000-31442800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:31440200-31442000	Weak transcription	Liver	Liver
47	chr14:31440200-31442200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr14:31440200-31442800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr14:31440200-31444000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:31440400-31442200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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