Variant report

Variant	rs13158214
Chromosome Location	chr5:80925290-80925291
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10514230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942267	0.90[CEU][hapmap]
rs10942269	0.86[CEU][hapmap]
rs10942274	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10942275	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11738820	0.93[ASN][1000 genomes]
rs11740689	0.90[CEU][hapmap]
rs11743304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11749863	0.91[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs12515751	0.86[CEU][hapmap]
rs12517941	0.90[ASN][1000 genomes]
rs12521077	0.90[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs12521151	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13157978	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13170372	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13171787	0.90[ASN][1000 genomes]
rs13173845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs13182474	0.91[CEU][hapmap]
rs13184174	0.96[ASN][1000 genomes]
rs13436668	0.81[ASN][1000 genomes]
rs1971177	1.00[ASN][1000 genomes]
rs2060584	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs34307657	1.00[ASN][1000 genomes]
rs34365981	1.00[ASN][1000 genomes]
rs34870295	0.88[ASN][1000 genomes]
rs35862056	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4274955	0.90[CEU][hapmap]
rs4392600	0.90[CEU][hapmap]
rs4426897	0.86[CEU][hapmap]
rs4513668	0.86[CEU][hapmap]
rs62366269	0.96[ASN][1000 genomes]
rs62368679	0.90[ASN][1000 genomes]
rs6452419	0.86[CEU][hapmap]
rs67002381	0.81[AMR][1000 genomes]
rs6859225	0.90[CEU][hapmap]
rs6867426	0.86[CEU][hapmap]
rs6869288	0.91[CEU][hapmap]
rs6871860	0.87[CEU][hapmap]
rs6874029	0.86[CEU][hapmap]
rs6880200	0.85[CEU][hapmap]
rs6887473	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6890850	0.89[CEU][hapmap]
rs71636282	0.95[ASN][1000 genomes]
rs72773052	0.92[ASN][1000 genomes]
rs7702047	0.86[CEU][hapmap]
rs7707981	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709916	0.90[CEU][hapmap]
rs7711576	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7717663	0.91[CEU][hapmap]
rs7720445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7721321	0.91[CEU][hapmap]
rs7725320	0.91[CEU][hapmap]
rs7726379	0.98[ASN][1000 genomes]

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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:80906000-80927000	Weak transcription	Gastric	stomach
4	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
5	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:80906200-80927600	Weak transcription	Lung	lung
12	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
15	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
16	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
17	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
20	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
22	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:80911400-80925400	Weak transcription	Fetal Kidney	kidney
25	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
27	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
28	chr5:80918600-80926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:80921000-80925800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:80921200-80927000	Weak transcription	Small Intestine	intestine
33	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
34	chr5:80922400-80925800	Genic enhancers	Dnd41	blood
35	chr5:80922600-80929400	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:80922600-80933600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:80922800-80934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
42	chr5:80923200-80925800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:80923200-80926000	Weak transcription	HSMM	muscle
44	chr5:80923200-80927400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:80923200-80929800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:80923200-80930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:80923200-80934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:80923200-80934400	Weak transcription	NHDF-Ad	bronchial
49	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
50	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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