Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:42514400..42516657-chr3:42530746..42533400,4	MCF-7	breast:
2	chr3:42514438..42520179-chr3:42543715..42548032,5	MCF-7	breast:
3	chr3:42515498..42517075-chr3:42519588..42521366,2	K562	blood:
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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11129965	0.82[CEU][hapmap]
rs543673	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[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	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
3	esv1804804	chr3:42515186-42582403	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42513200-42515800	Enhancers	Placenta	Placenta
2	chr3:42513400-42516400	Enhancers	Lung	lung
3	chr3:42513400-42519600	Enhancers	Spleen	Spleen
4	chr3:42514200-42515800	Enhancers	Fetal Heart	heart
5	chr3:42514400-42515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:42514400-42516000	Enhancers	Esophagus	oesophagus
7	chr3:42514400-42519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:42514600-42516200	Enhancers	Gastric	stomach
9	chr3:42514800-42515800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:42514800-42515800	Enhancers	Right Ventricle	heart
11	chr3:42515000-42516000	Enhancers	HSMMtube	muscle
12	chr3:42515000-42516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:42515200-42516600	Enhancers	HUVEC	blood vessel
14	chr3:42515200-42518400	Weak transcription	Pancreas	Pancrea
15	chr3:42515400-42515800	Enhancers	NHEK	skin
16	chr3:42515400-42516200	Enhancers	Duodenum Mucosa	Duodenum
17	chr3:42515400-42516200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:42515400-42518000	Weak transcription	Adipose Nuclei	Adipose
19	chr3:42515600-42516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:42515600-42517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:42515600-42517400	Weak transcription	HMEC	breast
22	chr3:42515600-42517800	Weak transcription	Stomach Mucosa	stomach

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