Variant report

Variant	rs17470169
Chromosome Location	chr1:57006839-57006840
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1041602	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1418977	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1759753	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1777279	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1819750	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3927760	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3927761	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41487448	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61772578	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61772592	0.89[EUR][1000 genomes]
rs61772593	1.00[AFR][1000 genomes]
rs61772595	0.89[EUR][1000 genomes]
rs61772618	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61772620	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61772622	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61772623	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61772625	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61772626	0.92[EUR][1000 genomes]
rs61772627	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6674131	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6688009	0.84[CEU][hapmap]
rs9437006	0.89[EUR][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

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
2	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
3	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
5	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
6	chr1:56999400-57012800	Weak transcription	HSMMtube	muscle
7	chr1:57000200-57008200	Weak transcription	Fetal Kidney	kidney
8	chr1:57000400-57011000	Weak transcription	Gastric	stomach
9	chr1:57000400-57013000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:57001200-57018800	Weak transcription	A549	lung
11	chr1:57001800-57018600	Weak transcription	Small Intestine	intestine
12	chr1:57001800-57021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:57002400-57008600	Enhancers	Brain Hippocampus Middle	brain
14	chr1:57002600-57008600	Enhancers	Brain Anterior Caudate	brain
15	chr1:57002800-57013200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:57002800-57018600	Weak transcription	Thymus	Thymus
17	chr1:57003000-57007200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:57003000-57007600	Enhancers	Adipose Nuclei	Adipose
19	chr1:57003000-57008000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:57003000-57008600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:57003200-57007600	Enhancers	Brain Substantia Nigra	brain
22	chr1:57003200-57007600	Enhancers	Fetal Lung	lung
23	chr1:57003200-57011400	Weak transcription	Lung	lung
24	chr1:57003200-57019800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:57003400-57008600	Enhancers	Ovary	ovary
26	chr1:57003400-57015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:57003600-57007600	Enhancers	Brain Cingulate Gyrus	brain
28	chr1:57003600-57013200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:57003800-57007800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:57003800-57011200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:57004000-57007800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:57004000-57007800	Weak transcription	HSMM	muscle
33	chr1:57004000-57008000	Enhancers	HepG2	liver
34	chr1:57004000-57008200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:57004000-57011200	Weak transcription	Spleen	Spleen
36	chr1:57004000-57014800	Weak transcription	Fetal Thymus	thymus
37	chr1:57004200-57007000	Enhancers	Fetal Stomach	stomach
38	chr1:57004200-57011400	Weak transcription	Esophagus	oesophagus
39	chr1:57004400-57013200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:57004600-57007600	Weak transcription	Placenta	Placenta
41	chr1:57004600-57008000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:57004600-57008400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:57004600-57010400	Enhancers	Colon Smooth Muscle	Colon
44	chr1:57005000-57007600	Enhancers	Rectal Smooth Muscle	rectum
45	chr1:57005200-57007400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr1:57005200-57008600	Enhancers	Psoas Muscle	Psoas
47	chr1:57005400-57007000	Genic enhancers	Liver	Liver
48	chr1:57005400-57007200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:57005600-57008000	Weak transcription	Right Ventricle	heart
50	chr1:57005600-57008400	Weak transcription	Brain Angular Gyrus	brain

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