Variant report

Variant	rs11709009
Chromosome Location	chr3:42515122-42515123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42513786..42515650-chr3:42578967..42581599,2	MCF-7	breast:
2	chr3:42514400..42516657-chr3:42530746..42533400,4	MCF-7	breast:
3	chr3:42514438..42520179-chr3:42543715..42548032,5	MCF-7	breast:
4	chr3:42514055..42518453-chr3:42530797..42534377,7	MCF-7	breast:
5	chr3:42513067..42515977-chr3:42516724..42519478,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11129963	0.81[ASN][1000 genomes]
rs11718502	0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs4682751	0.81[JPT][hapmap];0.80[YRI][hapmap];0.86[EUR][1000 genomes]
rs56227329	0.81[ASN][1000 genomes]
rs59934907	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6798660	0.81[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	nsv529987	chr3:41921995-42591771	Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1005533	chr3:41953873-42596375	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42513200-42515800	Enhancers	Placenta	Placenta
2	chr3:42513400-42515600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:42513400-42516400	Enhancers	Lung	lung
4	chr3:42513400-42519600	Enhancers	Spleen	Spleen
5	chr3:42514200-42515600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr3:42514200-42515600	Enhancers	Stomach Mucosa	stomach
7	chr3:42514200-42515800	Enhancers	Fetal Heart	heart
8	chr3:42514400-42515200	Enhancers	Left Ventricle	heart
9	chr3:42514400-42515200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr3:42514400-42515200	Flanking Active TSS	HUVEC	blood vessel
11	chr3:42514400-42515400	Enhancers	Colonic Mucosa	Colon
12	chr3:42514400-42515600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:42514400-42515600	Enhancers	HMEC	breast
14	chr3:42514400-42515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:42514400-42516000	Enhancers	Esophagus	oesophagus
16	chr3:42514400-42519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:42514600-42515200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:42514600-42515200	Enhancers	Pancreas	Pancrea
19	chr3:42514600-42515200	Enhancers	Right Atrium	heart
20	chr3:42514600-42515400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:42514600-42515400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:42514600-42515400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr3:42514600-42515600	Enhancers	Fetal Muscle Trunk	muscle
24	chr3:42514600-42515600	Enhancers	HSMM	muscle
25	chr3:42514600-42516200	Enhancers	Gastric	stomach
26	chr3:42514800-42515200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr3:42514800-42515200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:42514800-42515400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:42514800-42515400	Enhancers	Adipose Nuclei	Adipose
30	chr3:42514800-42515400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr3:42514800-42515600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr3:42514800-42515800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:42514800-42515800	Enhancers	Right Ventricle	heart
34	chr3:42515000-42515200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:42515000-42515400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr3:42515000-42515400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:42515000-42515400	Flanking Active TSS	NHEK	skin
38	chr3:42515000-42516000	Enhancers	HSMMtube	muscle
39	chr3:42515000-42516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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