Variant report

Variant	rs812607
Chromosome Location	chr13:50784995-50784996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50696907..50700577-chr13:50781270..50785724,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs201805	0.87[AMR][1000 genomes]
rs706604	1.00[EUR][1000 genomes]
rs73495882	1.00[EUR][1000 genomes]
rs73495892	1.00[EUR][1000 genomes]
rs73495894	1.00[EUR][1000 genomes]
rs73498021	1.00[EUR][1000 genomes]
rs73498033	1.00[EUR][1000 genomes]
rs73498084	1.00[EUR][1000 genomes]
rs73500218	1.00[EUR][1000 genomes]
rs806294	0.87[AMR][1000 genomes]
rs806298	0.87[AMR][1000 genomes]
rs806304	1.00[EUR][1000 genomes]
rs806307	1.00[EUR][1000 genomes]
rs806310	1.00[EUR][1000 genomes]
rs806329	1.00[EUR][1000 genomes]
rs806333	1.00[EUR][1000 genomes]
rs806340	1.00[EUR][1000 genomes]
rs806342	1.00[EUR][1000 genomes]
rs806343	1.00[EUR][1000 genomes]
rs806345	1.00[EUR][1000 genomes]
rs806347	1.00[EUR][1000 genomes]
rs806350	1.00[EUR][1000 genomes]
rs806351	1.00[EUR][1000 genomes]
rs806358	1.00[EUR][1000 genomes]
rs9596241	1.00[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	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:50775600-50786400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:50783000-50787600	Weak transcription	Aorta	Aorta
4	chr13:50783400-50786000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr13:50783400-50786000	Weak transcription	Placenta	Placenta
6	chr13:50783400-50787200	Weak transcription	HepG2	liver
7	chr13:50783400-50787400	Weak transcription	Right Ventricle	heart
8	chr13:50783600-50785000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr13:50783600-50785200	Enhancers	A549	lung
10	chr13:50783600-50785400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:50783600-50787400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:50783800-50785200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr13:50784000-50785000	Weak transcription	Osteobl	bone
14	chr13:50784000-50787200	Weak transcription	Primary T cells from cord blood	blood
15	chr13:50784000-50787200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:50784200-50785000	Weak transcription	Dnd41	blood
17	chr13:50784800-50785000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr13:50784800-50785000	Enhancers	HSMM	muscle
19	chr13:50784800-50785200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:50784800-50785200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:50784800-50785200	Enhancers	NH-A	brain
22	chr13:50784800-50785200	Enhancers	NHDF-Ad	bronchial
23	chr13:50784800-50785400	Enhancers	HMEC	breast
24	chr13:50784800-50787400	Weak transcription	Monocytes-CD14+_RO01746	blood

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