Variant report

Variant	rs57587453
Chromosome Location	chr5:80921443-80921444
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10036942	1.00[ASN][1000 genomes]
rs10050981	1.00[ASN][1000 genomes]
rs10054360	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10056236	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10057707	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10059425	0.82[EUR][1000 genomes]
rs10060208	0.97[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060828	0.89[ASN][1000 genomes]
rs10062494	0.82[EUR][1000 genomes]
rs10064862	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10064938	0.82[EUR][1000 genomes]
rs10066110	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10069094	0.98[AFR][1000 genomes]
rs10074416	0.85[AFR][1000 genomes]
rs10473849	0.89[ASN][1000 genomes]
rs10473850	0.82[EUR][1000 genomes]
rs10474032	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10474033	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10474035	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514221	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10942268	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10942277	0.82[EUR][1000 genomes]
rs10942278	0.82[EUR][1000 genomes]
rs10942279	0.82[EUR][1000 genomes]
rs13354281	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13357855	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13360410	0.82[EUR][1000 genomes]
rs13362287	0.82[EUR][1000 genomes]
rs1373965	0.82[EUR][1000 genomes]
rs16876417	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs16898989	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465130	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28546170	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28825230	0.90[AFR][1000 genomes]
rs55792529	0.82[EUR][1000 genomes]
rs56414093	0.89[ASN][1000 genomes]
rs57681369	0.89[ASN][1000 genomes]
rs58050716	0.82[EUR][1000 genomes]
rs58238009	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs58652756	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59261412	0.83[AFR][1000 genomes]
rs61561045	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6452417	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6452422	0.82[EUR][1000 genomes]
rs6869839	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6872195	0.82[EUR][1000 genomes]
rs6872668	0.89[ASN][1000 genomes]
rs6884379	1.00[ASN][1000 genomes]
rs6887061	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6887447	0.82[EUR][1000 genomes]
rs6888401	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6893886	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6896772	0.89[ASN][1000 genomes]
rs6897373	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6898968	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73133677	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73133692	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73135608	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73135614	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73135635	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73135661	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73766239	0.89[ASN][1000 genomes]
rs7707946	0.82[EUR][1000 genomes]
rs7717767	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7736720	0.85[AFR][1000 genomes]
rs9293277	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641	0.89[ASN][1000 genomes]
rs9986216	0.83[AFR][1000 genomes];1.00[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: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	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:80905800-80922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:80906000-80927000	Weak transcription	Gastric	stomach
8	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
9	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
11	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:80906200-80922200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:80906200-80922200	Weak transcription	HSMMtube	muscle
14	chr5:80906200-80923600	Weak transcription	Ovary	ovary
15	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
16	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:80906200-80927600	Weak transcription	Lung	lung
20	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
23	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
24	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
25	chr5:80906400-80921600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:80906600-80922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:80907600-80921800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
31	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:80909800-80921600	Weak transcription	HSMM	muscle
33	chr5:80909800-80922400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
35	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:80910600-80922200	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:80910800-80924800	Weak transcription	Thymus	Thymus
38	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:80911200-80922400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:80911400-80922400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:80911400-80925400	Weak transcription	Fetal Kidney	kidney
42	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:80918400-80922200	Weak transcription	Osteobl	bone
44	chr5:80918400-80922400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:80918400-80922400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:80918400-80923800	Weak transcription	Primary B cells from cord blood	blood
47	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
48	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
49	chr5:80918600-80922000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:80918600-80922400	Strong transcription	Dnd41	blood

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