Variant report

Variant	rs17035709
Chromosome Location	chr2:47051709-47051710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47050047..47052798-chr2:47110089..47111890,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17823065	0.80[CEU][hapmap]
rs17823581	0.80[CEU][hapmap]
rs17824594	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55980660	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56060227	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56172110	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804436	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804437	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72804438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72804445	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804446	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72804450	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804451	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804452	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804458	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72804469	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72804470	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv817840	chr2:47044218-47070827	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47031400-47052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:47039800-47053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:47042800-47053400	Weak transcription	Fetal Lung	lung
4	chr2:47045200-47054800	Weak transcription	Spleen	Spleen
5	chr2:47045600-47053000	Weak transcription	NHDF-Ad	bronchial
6	chr2:47046400-47052000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:47049200-47052000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:47049200-47053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:47049200-47053800	Weak transcription	Lung	lung
10	chr2:47049400-47052800	Weak transcription	Osteobl	bone
11	chr2:47049400-47053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:47049400-47053200	Weak transcription	Right Ventricle	heart
13	chr2:47049600-47051800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:47049600-47053000	Weak transcription	Right Atrium	heart
15	chr2:47049600-47054000	Weak transcription	Left Ventricle	heart
16	chr2:47049600-47054600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:47050000-47054400	Weak transcription	Fetal Heart	heart
18	chr2:47050800-47053200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:47051200-47057200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:47051600-47052200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:47051600-47052200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:47051600-47052200	Strong transcription	Placenta	Placenta
23	chr2:47051600-47052200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:47051600-47052200	Enhancers	NHEK	skin
25	chr2:47051600-47052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:47051600-47052400	Enhancers	HMEC	breast
27	chr2:47051600-47052400	Enhancers	HUVEC	blood vessel

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