Variant report

Variant	rs4312363
Chromosome Location	chr17:53535371-53535372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10852975	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079174	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651780	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12939438	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940283	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4793796	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7207559	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209034	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7211104	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213973	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8070676	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9303369	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9899662	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914970	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv2100	chr17:53492380-54328516	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1062337	chr17:53510996-54161442	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53528200-53536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:53528400-53536400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:53528800-53535800	Weak transcription	Small Intestine	intestine
4	chr17:53528800-53536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:53530200-53535600	Weak transcription	NH-A	brain
6	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
7	chr17:53530600-53535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:53530600-53535800	Weak transcription	Right Ventricle	heart
9	chr17:53530600-53536000	Weak transcription	GM12878-XiMat	blood
10	chr17:53530800-53535600	Weak transcription	HMEC	breast
11	chr17:53531400-53535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:53531600-53536000	Weak transcription	HSMM	muscle
13	chr17:53532400-53535600	Weak transcription	NHEK	skin
14	chr17:53532400-53535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:53532600-53535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:53532600-53535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:53532600-53535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:53532600-53536000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:53532600-53536200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:53532800-53537400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:53533000-53535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:53533200-53535600	Weak transcription	Placenta	Placenta
23	chr17:53533200-53535800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:53533400-53536000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:53533800-53535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:53534000-53535600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:53534000-53536000	Weak transcription	HepG2	liver
28	chr17:53534400-53536000	Weak transcription	Osteobl	bone
29	chr17:53534400-53536200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:53534400-53536200	Weak transcription	NHLF	lung
31	chr17:53534600-53535800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr17:53534600-53535800	Weak transcription	NHDF-Ad	bronchial
33	chr17:53534600-53536000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:53534600-53536000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:53535000-53536200	Enhancers	Hela-S3	cervix
36	chr17:53535000-53537200	Enhancers	A549	lung
37	chr17:53535200-53535400	Enhancers	Duodenum Smooth Muscle	Duodenum

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