Variant report

Variant	rs17416285
Chromosome Location	chr1:57020650-57020651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1041602	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs1418977	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1759753	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1777279	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1819750	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3927760	0.80[CEU][hapmap];1.00[ASN][1000 genomes]
rs3927761	1.00[ASN][1000 genomes]
rs41487448	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs61772592	1.00[ASN][1000 genomes]
rs61772595	1.00[ASN][1000 genomes]
rs61772618	1.00[ASN][1000 genomes]
rs61772620	1.00[ASN][1000 genomes]
rs61772622	1.00[ASN][1000 genomes]
rs61772623	1.00[ASN][1000 genomes]
rs61772625	1.00[ASN][1000 genomes]
rs61772626	1.00[ASN][1000 genomes]
rs61772627	1.00[ASN][1000 genomes]
rs6674131	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs857131	1.00[CHB][hapmap]
rs9437006	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17416285	DIO1	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:57007400-57028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:57009600-57028000	Weak transcription	Fetal Kidney	kidney
4	chr1:57013200-57021000	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:57014000-57026000	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57015800-57021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:57016000-57038600	Weak transcription	HSMMtube	muscle
8	chr1:57016600-57022200	Genic enhancers	NHDF-Ad	bronchial
9	chr1:57016800-57023400	Weak transcription	Fetal Intestine Small	intestine
10	chr1:57017400-57020800	Weak transcription	Spleen	Spleen
11	chr1:57017400-57025000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:57017400-57035400	Weak transcription	Esophagus	oesophagus
13	chr1:57017400-57035400	Weak transcription	Fetal Thymus	thymus
14	chr1:57017400-57039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:57017600-57025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57017800-57020800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:57017800-57020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:57017800-57023400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:57017800-57028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:57017800-57028600	Weak transcription	Pancreas	Pancrea
21	chr1:57017800-57040800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:57018000-57020800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:57018400-57022000	Enhancers	Brain Substantia Nigra	brain
24	chr1:57018600-57022000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:57019200-57020800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:57019200-57023600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:57019200-57026000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:57019200-57027800	Weak transcription	Fetal Brain Female	brain
29	chr1:57019200-57028400	Weak transcription	Aorta	Aorta
30	chr1:57019200-57030400	Weak transcription	HSMM	muscle
31	chr1:57019400-57020800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:57019400-57020800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:57019400-57020800	Weak transcription	Psoas Muscle	Psoas
34	chr1:57019400-57020800	Weak transcription	Right Atrium	heart
35	chr1:57019400-57023200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:57019400-57023400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:57019400-57024000	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:57019400-57027400	Weak transcription	Lung	lung
39	chr1:57019400-57027600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:57019400-57030000	Weak transcription	Osteobl	bone
41	chr1:57019400-57030200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:57019600-57020800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:57019600-57021200	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr1:57019600-57021200	Strong transcription	NHLF	lung
45	chr1:57019600-57021600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr1:57019600-57022000	Enhancers	Brain Anterior Caudate	brain
47	chr1:57019600-57022800	Weak transcription	Brain Angular Gyrus	brain
48	chr1:57019600-57023600	Weak transcription	Right Ventricle	heart
49	chr1:57019600-57027000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:57019600-57027400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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