Variant report

Variant	rs417684
Chromosome Location	chr5:80911827-80911828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs2917541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2917543	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2917545	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921499	0.86[CHB][hapmap]
rs2972227	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972237	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2972238	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2972239	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2972241	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972245	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs2973335	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973336	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2973341	0.81[AFR][1000 genomes]
rs2973345	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2973346	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2973347	0.95[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2973350	1.00[YRI][hapmap]
rs383082	0.89[AMR][1000 genomes]
rs388560	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3943733	0.85[CHB][hapmap]
rs401912	0.84[CHB][hapmap];0.80[AMR][1000 genomes]
rs402390	0.85[CHB][hapmap]
rs406465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs433118	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4426897	1.00[YRI][hapmap]
rs447747	0.88[AMR][1000 genomes]
rs4519906	0.91[ASN][1000 genomes]
rs454578	0.90[CHB][hapmap]
rs62366265	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6452419	1.00[YRI][hapmap]
rs827074	0.90[AMR][1000 genomes];0.90[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs417684	CTD-2249K22.1	cis	Thyroid	GTEx

Chromatin state (count:79 , 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	chr5:80895800-80912000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:80895800-80922600	Weak transcription	Fetal Heart	heart
5	chr5:80897600-80922400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:80899400-80915400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:80904000-80915000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:80905000-80921400	Weak transcription	NHDF-Ad	bronchial
9	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:80905400-80912000	ZNF genes & repeats	Dnd41	blood
11	chr5:80905800-80916000	Weak transcription	Fetal Brain Male	brain
12	chr5:80905800-80922200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:80906000-80912600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:80906000-80913600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:80906000-80918000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:80906000-80927000	Weak transcription	Gastric	stomach
17	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
18	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
20	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:80906200-80913800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:80906200-80918000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:80906200-80918200	Weak transcription	Fetal Stomach	stomach
24	chr5:80906200-80922200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr5:80906200-80922200	Weak transcription	HSMMtube	muscle
26	chr5:80906200-80923600	Weak transcription	Ovary	ovary
27	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
28	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:80906200-80927600	Weak transcription	Lung	lung
32	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
35	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
36	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
37	chr5:80906400-80913000	Weak transcription	Fetal Intestine Large	intestine
38	chr5:80906400-80913600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:80906400-80921600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:80906600-80922200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:80907600-80921800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr5:80908200-80918200	Weak transcription	Fetal Lung	lung
45	chr5:80908400-80918200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:80909600-80912000	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
48	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:80909800-80921600	Weak transcription	HSMM	muscle
50	chr5:80909800-80922400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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