Variant report

Variant	rs72651313
Chromosome Location	chr4:76744008-76744009
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76741166..76744063-chr4:76769113..76771616,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10009902	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10010519	0.81[AMR][1000 genomes]
rs10014281	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10028884	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029110	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11729258	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13119659	0.93[ASN][1000 genomes]
rs1553984	0.83[AMR][1000 genomes]
rs226416	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280095	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2869174	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324682	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324683	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324685	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324689	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324692	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324695	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324707	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324708	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324711	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324715	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324716	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324717	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324718	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324721	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324724	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324725	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324737	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34385808	0.93[EUR][1000 genomes]
rs3853183	0.83[AMR][1000 genomes]
rs3853184	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3942252	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs436611	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443952	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859550	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5020591	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6419115	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531889	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531902	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531903	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67474106	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6826858	0.80[EUR][1000 genomes]
rs6835819	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842216	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855321	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7356270	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356310	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7657871	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7662940	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7674063	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7677150	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7691385	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7696241	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7698393	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3467669	chr4:76741328-76746326	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3467670	chr4:76741328-76746326	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	esv3521068	chr4:76742105-76744366	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3521069	chr4:76742178-76744366	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	esv3521067	chr4:76742178-76745626	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv14694	chr4:76743255-76744325	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:76736800-76745000	Weak transcription	Ovary	ovary
6	chr4:76736800-76745000	Weak transcription	K562	blood
7	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
10	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
14	chr4:76738200-76745200	Weak transcription	Osteobl	bone
15	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:76738400-76744800	Weak transcription	NH-A	brain
18	chr4:76738400-76751800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:76738800-76745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:76742600-76745000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:76743200-76744200	Enhancers	A549	lung
22	chr4:76743600-76745000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:76743800-76744800	Weak transcription	Pancreas	Pancrea
24	chr4:76743800-76764800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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