Variant report

Variant	rs9543933
Chromosome Location	chr13:76032281-76032282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76016614..76019558-chr13:76031564..76033175,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7988372	0.97[ASN][1000 genomes]
rs9543935	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9543937	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9593078	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9593079	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr13:76012000-76033000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr13:76012800-76036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr13:76017800-76033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:76017800-76039400	Weak transcription	Fetal Stomach	stomach
5	chr13:76020400-76054400	Weak transcription	A549	lung
6	chr13:76022200-76035800	Weak transcription	Aorta	Aorta
7	chr13:76025000-76032400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:76025400-76033000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr13:76026800-76033000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:76027000-76034800	Weak transcription	HSMMtube	muscle
11	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:76027200-76033000	Weak transcription	Adipose Nuclei	Adipose
13	chr13:76027200-76035000	Weak transcription	Osteobl	bone
14	chr13:76027200-76035200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:76027200-76038600	Weak transcription	HSMM	muscle
16	chr13:76027800-76032600	Weak transcription	Liver	Liver
17	chr13:76027800-76033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:76027800-76033000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
20	chr13:76029200-76033000	Weak transcription	Fetal Lung	lung
21	chr13:76030200-76033400	Enhancers	Psoas Muscle	Psoas
22	chr13:76030200-76033800	Enhancers	Fetal Heart	heart
23	chr13:76030400-76034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:76030800-76033000	Weak transcription	HMEC	breast
25	chr13:76031000-76032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr13:76031000-76032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:76031000-76033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:76031000-76033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:76031000-76033000	Weak transcription	NHEK	skin
30	chr13:76031000-76033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:76031000-76034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
33	chr13:76031800-76032600	Genic enhancers	HepG2	liver
34	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr13:76032000-76032600	Enhancers	Gastric	stomach
36	chr13:76032000-76032600	Enhancers	Right Ventricle	heart
37	chr13:76032000-76032600	Enhancers	GM12878-XiMat	blood
38	chr13:76032000-76033000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr13:76032000-76033400	Enhancers	Left Ventricle	heart
40	chr13:76032000-76033400	Enhancers	Pancreas	Pancrea
41	chr13:76032000-76033400	Enhancers	Right Atrium	heart
42	chr13:76032000-76033600	Enhancers	Ovary	ovary
43	chr13:76032200-76033000	Weak transcription	Fetal Muscle Leg	muscle

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