Variant report

Variant	rs9303369
Chromosome Location	chr17:53533743-53533744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:53525201..53529614-chr17:53530213..53534164,4	MCF-7	breast:
2	chr17:53497743..53499488-chr17:53532762..53535145,2	K562	blood:
3	chr17:53525902..53527548-chr17:53531902..53533824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108960	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10852975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079174	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651780	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12939438	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12940283	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4312363	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793796	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7207559	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7209034	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7211104	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213973	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8070676	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9303370	0.88[JPT][hapmap]
rs9899662	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53524000-53534000	Enhancers	HepG2	liver
2	chr17:53525800-53534600	Enhancers	Hela-S3	cervix
3	chr17:53526000-53534400	Enhancers	Adipose Nuclei	Adipose
4	chr17:53528000-53534400	Enhancers	NHLF	lung
5	chr17:53528200-53536800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr17:53528400-53534600	Enhancers	NHDF-Ad	bronchial
7	chr17:53528400-53536400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:53528800-53533800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr17:53528800-53535800	Weak transcription	Small Intestine	intestine
10	chr17:53528800-53536400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:53530000-53534000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr17:53530200-53535600	Weak transcription	NH-A	brain
13	chr17:53530400-53533800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:53530400-53544000	Weak transcription	Fetal Kidney	kidney
15	chr17:53530600-53535800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:53530600-53535800	Weak transcription	Right Ventricle	heart
17	chr17:53530600-53536000	Weak transcription	GM12878-XiMat	blood
18	chr17:53530800-53535600	Weak transcription	HMEC	breast
19	chr17:53531400-53535800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:53531600-53536000	Weak transcription	HSMM	muscle
21	chr17:53532200-53534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:53532400-53533800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:53532400-53535600	Weak transcription	NHEK	skin
24	chr17:53532400-53535800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr17:53532600-53534600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:53532600-53535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr17:53532600-53535800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:53532600-53535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:53532600-53536000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr17:53532600-53536200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:53532800-53533800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr17:53532800-53534400	Enhancers	Fetal Intestine Large	intestine
33	chr17:53532800-53537400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr17:53533000-53534800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr17:53533000-53535800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:53533200-53533800	Weak transcription	Colon Smooth Muscle	Colon
37	chr17:53533200-53534400	Enhancers	Osteobl	bone
38	chr17:53533200-53534600	Enhancers	A549	lung
39	chr17:53533200-53535600	Weak transcription	Placenta	Placenta
40	chr17:53533200-53535800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:53533400-53536000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:53533600-53534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:53533600-53534400	Enhancers	HUVEC	blood vessel

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