Variant report

Variant	rs16876417
Chromosome Location	chr5:80901798-80901799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80895098..80897934-chr5:80899967..80903607,4	K562	blood:
2	chr5:80900552..80902369-chr5:80906514..80908761,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10036942	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10050981	0.89[ASN][1000 genomes]
rs10054360	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10056236	1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10057707	1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs10060208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10064862	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs10066110	1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs10069094	0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs10074416	0.83[AFR][1000 genomes]
rs10473849	1.00[ASN][1000 genomes]
rs10474032	1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs10474033	1.00[JPT][hapmap];0.85[AFR][1000 genomes]
rs10474035	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10514221	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10942268	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs12515751	0.91[YRI][hapmap]
rs13354281	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13357855	0.83[AFR][1000 genomes]
rs16898989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28465130	0.85[AFR][1000 genomes]
rs28546170	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28825230	0.88[AFR][1000 genomes]
rs4529168	0.86[YRI][hapmap]
rs57587453	0.98[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs58238009	0.98[AFR][1000 genomes]
rs58652756	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs59261412	0.82[AFR][1000 genomes]
rs61511117	0.87[ASN][1000 genomes]
rs61561045	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6452405	0.87[ASN][1000 genomes]
rs6452417	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6859225	0.86[YRI][hapmap]
rs6869839	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6875373	0.87[ASN][1000 genomes]
rs6875430	0.87[ASN][1000 genomes]
rs6884379	0.89[ASN][1000 genomes]
rs6887061	0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6888401	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs6893886	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6896772	1.00[JPT][hapmap]
rs6897373	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6898968	1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73133677	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73133692	0.85[AFR][1000 genomes]
rs73135608	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73135614	0.92[AFR][1000 genomes]
rs73135635	1.00[AFR][1000 genomes]
rs73135661	0.83[AFR][1000 genomes]
rs7703543	0.87[ASN][1000 genomes]
rs7717767	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7721321	0.95[YRI][hapmap]
rs7736720	0.83[AFR][1000 genomes]
rs9293277	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs9641	1.00[JPT][hapmap]
rs9986216	1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:80883800-80909200	Weak transcription	HSMM	muscle
3	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
4	chr5:80886800-80905400	Weak transcription	Brain Substantia Nigra	brain
5	chr5:80887000-80905600	Weak transcription	Brain Anterior Caudate	brain
6	chr5:80887000-80922400	Weak transcription	Psoas Muscle	Psoas
7	chr5:80887200-80905400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:80887200-80911200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:80887400-80904600	Weak transcription	Osteobl	bone
10	chr5:80888600-80905200	Weak transcription	Brain Germinal Matrix	brain
11	chr5:80888600-80905400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:80888800-80905600	Weak transcription	Fetal Stomach	stomach
13	chr5:80892000-80905600	Weak transcription	Gastric	stomach
14	chr5:80892800-80904600	Weak transcription	Fetal Brain Male	brain
15	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:80893600-80905600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:80893600-80905600	Weak transcription	Aorta	Aorta
18	chr5:80893600-80909600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr5:80893800-80903000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:80894400-80905200	Weak transcription	Fetal Intestine Large	intestine
21	chr5:80894400-80905400	Weak transcription	Fetal Brain Female	brain
22	chr5:80894400-80905800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:80894600-80905600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr5:80894600-80905600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:80894600-80905600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:80894600-80905600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:80894600-80905600	Weak transcription	Left Ventricle	heart
28	chr5:80894800-80905400	Weak transcription	Fetal Kidney	kidney
29	chr5:80894800-80905600	Weak transcription	Adipose Nuclei	Adipose
30	chr5:80895000-80905400	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:80895000-80905600	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:80895200-80905400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:80895200-80909600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:80895400-80904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:80895400-80905400	Weak transcription	Liver	Liver
36	chr5:80895400-80905400	Weak transcription	Ovary	ovary
37	chr5:80895600-80909200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:80895800-80904600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:80895800-80904800	Weak transcription	Fetal Lung	lung
40	chr5:80895800-80905800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
43	chr5:80897200-80911800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr5:80897400-80905600	Weak transcription	Esophagus	oesophagus
45	chr5:80897600-80905600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:80897800-80905600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:80898000-80901800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:80898000-80905800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr5:80898400-80910400	Weak transcription	Placenta Amnion	Placenta Amnion

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