Variant report

Variant	rs60796217
Chromosome Location	chr5:80921296-80921297
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11952518	0.85[AMR][1000 genomes]
rs56171371	0.85[AMR][1000 genomes]
rs57455684	0.85[AMR][1000 genomes]
rs57679797	0.85[AMR][1000 genomes]
rs57695076	0.85[AMR][1000 genomes]
rs60863858	0.85[AMR][1000 genomes]
rs60916090	0.95[AFR][1000 genomes]
rs6452421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6872753	1.00[AMR][1000 genomes]
rs6893327	0.85[AMR][1000 genomes]
rs6897697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766271	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73766295	0.85[AMR][1000 genomes]
rs73766298	0.85[AMR][1000 genomes]
rs73766300	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768105	0.85[AMR][1000 genomes]
rs73768115	0.85[AMR][1000 genomes]
rs73768119	0.85[AMR][1000 genomes]
rs73768120	0.85[AMR][1000 genomes]
rs73768122	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73768123	1.00[AMR][1000 genomes]
rs7719738	0.85[AMR][1000 genomes]
rs7728066	0.85[AMR][1000 genomes]
rs7735543	0.85[AMR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
2	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
4	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:80905000-80921400	Weak transcription	NHDF-Ad	bronchial
6	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:80905800-80922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:80906000-80927000	Weak transcription	Gastric	stomach
9	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
10	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
12	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:80906200-80922200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:80906200-80922200	Weak transcription	HSMMtube	muscle
15	chr5:80906200-80923600	Weak transcription	Ovary	ovary
16	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
17	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:80906200-80927600	Weak transcription	Lung	lung
21	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
24	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
25	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
26	chr5:80906400-80921600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:80906600-80922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:80907600-80921800	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
32	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:80909800-80921600	Weak transcription	HSMM	muscle
34	chr5:80909800-80922400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
36	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr5:80910600-80922200	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:80910800-80924800	Weak transcription	Thymus	Thymus
39	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr5:80911200-80922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:80911400-80922400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr5:80911400-80925400	Weak transcription	Fetal Kidney	kidney
43	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:80918400-80921400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:80918400-80922200	Weak transcription	Osteobl	bone
46	chr5:80918400-80922400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:80918400-80922400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:80918400-80923800	Weak transcription	Primary B cells from cord blood	blood
49	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
50	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung

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