Variant report

Variant	rs8008383
Chromosome Location	chr14:32171589-32171590
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10131398	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10131543	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10132839	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10133374	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134196	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs10138578	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10138795	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139898	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs10139963	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs10140944	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148949	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11156699	1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050202	0.80[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12050415	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12897779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1367317	0.90[CEU][hapmap];1.00[CHB][hapmap]
rs1373013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373014	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1373015	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2120134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981892	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs59626793	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571457	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6571461	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7146010	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147785	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs7153589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253205	1.00[ASN][1000 genomes]
rs8009008	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013999	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8015946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018230	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8020297	0.90[CEU][hapmap]
rs9989137	0.91[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv901591	chr14:32093548-32202677	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv901592	chr14:32093548-32267323	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32141400-32175800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:32148000-32183600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:32152400-32173000	Weak transcription	Ovary	ovary
4	chr14:32155400-32173000	Weak transcription	Aorta	Aorta
5	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:32162000-32171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:32162000-32175000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:32162200-32172400	Weak transcription	Adipose Nuclei	Adipose
10	chr14:32165000-32179600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:32165600-32188200	Weak transcription	Right Ventricle	heart
12	chr14:32165800-32175000	Weak transcription	Gastric	stomach
13	chr14:32166400-32177800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:32166600-32176200	Weak transcription	Liver	Liver
15	chr14:32167200-32177000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr14:32167800-32174400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:32168800-32174400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:32168800-32176800	Weak transcription	Left Ventricle	heart
19	chr14:32169600-32177200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:32169600-32181800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:32169800-32173800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:32170000-32172400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:32170200-32172400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:32170400-32172600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr14:32170400-32175400	Weak transcription	Fetal Lung	lung
26	chr14:32170600-32171800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:32170800-32171600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:32170800-32171600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
29	chr14:32170800-32171600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:32170800-32172400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:32170800-32172400	Weak transcription	Fetal Stomach	stomach
32	chr14:32170800-32173600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:32171000-32171600	ZNF genes & repeats	HepG2	liver
34	chr14:32171000-32186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:32171000-32200600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr14:32171200-32171600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr14:32171200-32171600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:32171200-32171800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr14:32171200-32172000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
40	chr14:32171200-32172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr14:32171200-32172800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr14:32171400-32171600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:32171400-32171600	ZNF genes & repeats	Primary B cells from cord blood	blood
44	chr14:32171400-32171800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:32171400-32175200	Strong transcription	Primary T cells from cord blood	blood

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