Variant report

Variant	rs9530440
Chromosome Location	chr13:76032469-76032470
allele	C/T
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11620109	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031507	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031508	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35267702	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4542543	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4883999	0.86[ASN][1000 genomes]
rs7331661	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7335576	0.85[ASN][1000 genomes]
rs9573548	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573554	0.90[ASN][1000 genomes]
rs9573555	0.87[CHB][hapmap];0.90[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:46 , 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	chr13:76025400-76033000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr13:76026800-76033000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr13:76027000-76034800	Weak transcription	HSMMtube	muscle
10	chr13:76027000-76041600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:76027200-76033000	Weak transcription	Adipose Nuclei	Adipose
12	chr13:76027200-76035000	Weak transcription	Osteobl	bone
13	chr13:76027200-76035200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr13:76027200-76038600	Weak transcription	HSMM	muscle
15	chr13:76027800-76032600	Weak transcription	Liver	Liver
16	chr13:76027800-76033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr13:76027800-76033000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr13:76028400-76054800	Weak transcription	Esophagus	oesophagus
19	chr13:76029200-76033000	Weak transcription	Fetal Lung	lung
20	chr13:76030200-76033400	Enhancers	Psoas Muscle	Psoas
21	chr13:76030200-76033800	Enhancers	Fetal Heart	heart
22	chr13:76030400-76034600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:76030800-76033000	Weak transcription	HMEC	breast
24	chr13:76031000-76032800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:76031000-76032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:76031000-76033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:76031000-76033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr13:76031000-76033000	Weak transcription	NHEK	skin
29	chr13:76031000-76033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr13:76031000-76034800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr13:76031400-76039000	Weak transcription	HUVEC	blood vessel
32	chr13:76031800-76032600	Genic enhancers	HepG2	liver
33	chr13:76031800-76053400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:76032000-76032600	Enhancers	Gastric	stomach
35	chr13:76032000-76032600	Enhancers	Right Ventricle	heart
36	chr13:76032000-76032600	Enhancers	GM12878-XiMat	blood
37	chr13:76032000-76033000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr13:76032000-76033400	Enhancers	Left Ventricle	heart
39	chr13:76032000-76033400	Enhancers	Pancreas	Pancrea
40	chr13:76032000-76033400	Enhancers	Right Atrium	heart
41	chr13:76032000-76033600	Enhancers	Ovary	ovary
42	chr13:76032200-76033000	Weak transcription	Fetal Muscle Leg	muscle
43	chr13:76032400-76032800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:76032400-76032800	Enhancers	Lung	lung
45	chr13:76032400-76033600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr13:76032400-76033600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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