Variant report

No.	Distal block	Cell Line	Cell type
1	chr3:42516207..42518241-chr3:42534385..42536870,2	MCF-7	breast:
2	chr3:42513067..42515977-chr3:42516724..42519478,3	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	chr3:42515854..42518647-chr3:42520665..42522893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114812	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs342518	0.88[AMR][1000 genomes]
rs342519	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs418252	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs418736	0.81[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs419555	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs421031	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs427048	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs427845	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs435698	0.88[AMR][1000 genomes]
rs452906	0.81[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs478581	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs493215	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs568717	0.81[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs569417	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs588801	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs589328	0.88[AMR][1000 genomes]
rs591094	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs630253	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs704973	0.81[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs704974	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs808097	0.82[AMR][1000 genomes];0.89[EUR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42513400-42519600	Enhancers	Spleen	Spleen
2	chr3:42514400-42519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:42515200-42518400	Weak transcription	Pancreas	Pancrea
4	chr3:42515400-42518000	Weak transcription	Adipose Nuclei	Adipose
5	chr3:42515600-42517400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr3:42515600-42517400	Weak transcription	HMEC	breast
7	chr3:42515600-42517800	Weak transcription	Stomach Mucosa	stomach
8	chr3:42515800-42517600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:42515800-42517600	Weak transcription	Placenta	Placenta
10	chr3:42515800-42517600	Weak transcription	NHEK	skin
11	chr3:42516000-42518000	Weak transcription	HSMMtube	muscle
12	chr3:42516200-42517600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:42516200-42517800	Weak transcription	Gastric	stomach
14	chr3:42516200-42518000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:42516400-42517800	Weak transcription	Lung	lung
16	chr3:42516600-42517600	Weak transcription	HUVEC	blood vessel
17	chr3:42516800-42518000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:42516800-42518800	Enhancers	Esophagus	oesophagus
19	chr3:42517000-42518000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

Quick Search: