Variant report

Variant	rs73135635
Chromosome Location	chr5:80930201-80930202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10053226	0.81[EUR][1000 genomes]
rs10054360	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056236	0.83[AFR][1000 genomes]
rs10057707	0.85[AFR][1000 genomes]
rs10059425	0.90[EUR][1000 genomes]
rs10060208	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10062494	0.90[EUR][1000 genomes]
rs10064862	0.85[AFR][1000 genomes]
rs10064938	0.90[EUR][1000 genomes]
rs10066110	0.85[AFR][1000 genomes]
rs10069094	0.97[AFR][1000 genomes]
rs10074416	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10074423	0.81[EUR][1000 genomes]
rs10078696	0.81[EUR][1000 genomes]
rs10473850	0.90[EUR][1000 genomes]
rs10474032	0.85[AFR][1000 genomes]
rs10474033	0.85[AFR][1000 genomes]
rs10474035	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10514221	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10942268	0.85[AFR][1000 genomes]
rs10942277	0.90[EUR][1000 genomes]
rs10942278	0.90[EUR][1000 genomes]
rs10942279	0.90[EUR][1000 genomes]
rs13354281	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13357855	0.83[AFR][1000 genomes]
rs13359852	0.81[EUR][1000 genomes]
rs13360410	0.90[EUR][1000 genomes]
rs13360536	0.81[EUR][1000 genomes]
rs13362287	0.90[EUR][1000 genomes]
rs1373965	0.90[EUR][1000 genomes]
rs16876417	1.00[AFR][1000 genomes]
rs16898989	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28465130	0.85[AFR][1000 genomes]
rs28546170	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28825230	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs55792529	0.90[EUR][1000 genomes]
rs57587453	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58050716	0.90[EUR][1000 genomes]
rs58238009	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58652756	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59261412	0.82[AFR][1000 genomes]
rs61561045	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6452417	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6452422	0.90[EUR][1000 genomes]
rs6869839	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6872195	0.90[EUR][1000 genomes]
rs6887061	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6887447	0.90[EUR][1000 genomes]
rs6888401	0.85[AFR][1000 genomes]
rs6893886	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6897373	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6898968	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73133677	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73133692	0.85[AFR][1000 genomes]
rs73135608	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73135614	0.92[AFR][1000 genomes]
rs73135661	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73137634	0.81[EUR][1000 genomes]
rs73137639	0.81[EUR][1000 genomes]
rs7707946	0.90[EUR][1000 genomes]
rs7717767	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7729317	0.81[EUR][1000 genomes]
rs7736720	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9293277	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9986216	0.85[AFR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
7	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
8	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
16	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
17	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
20	chr5:80922600-80933600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:80922800-80934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
25	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:80923200-80930600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:80923200-80934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:80923200-80934400	Weak transcription	NHDF-Ad	bronchial
29	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
30	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:80923200-80948400	Weak transcription	K562	blood
32	chr5:80923400-80930400	Weak transcription	Fetal Heart	heart
33	chr5:80923400-80934600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:80923400-80934600	Weak transcription	NHLF	lung
35	chr5:80923400-80934600	Weak transcription	Osteobl	bone
36	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
37	chr5:80923600-80933400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:80923800-80932800	Weak transcription	Psoas Muscle	Psoas
39	chr5:80923800-80936000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:80924200-80962800	Weak transcription	Ovary	ovary
41	chr5:80924600-80930400	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:80924600-80934600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:80924800-80930600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:80926000-80930600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:80926000-80930800	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
49	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
50	chr5:80926600-80930400	Enhancers	Primary T helper cells fromperipheralblood	blood

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