Variant report

Variant	rs1453288
Chromosome Location	chr7:47818966-47818967
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	chr7:47814103..47816415-chr7:47816480..47819252,2	K562	blood:
2	chr7:47817549..47819162-chr7:47820902..47823876,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10276437	0.80[CHD][hapmap]
rs12670472	0.80[CHD][hapmap]
rs12673415	0.86[CHD][hapmap]
rs17545292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17659711	0.82[CHB][hapmap]
rs17710633	0.82[CHB][hapmap]
rs1869322	0.82[CHB][hapmap]
rs1869323	0.82[CHB][hapmap]
rs2348460	0.85[CHD][hapmap]
rs3734933	0.82[CHB][hapmap]
rs4724645	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs57931259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58963857	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448545	0.88[ASN][1000 genomes]
rs62448548	0.88[ASN][1000 genomes]
rs62448549	0.88[ASN][1000 genomes]
rs62448550	0.88[ASN][1000 genomes]
rs6949512	0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr7:47814400-47823200	Enhancers	HepG2	liver
2	chr7:47815000-47821600	Weak transcription	Aorta	Aorta
3	chr7:47815800-47821600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:47815800-47821600	Weak transcription	NHLF	lung
5	chr7:47816200-47826000	Weak transcription	Right Atrium	heart
6	chr7:47816400-47821400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:47817000-47819000	Enhancers	HMEC	breast
8	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
9	chr7:47817400-47819000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:47817400-47819000	Enhancers	NHEK	skin
11	chr7:47817400-47819400	Enhancers	Fetal Intestine Large	intestine
12	chr7:47817400-47819400	Enhancers	Fetal Intestine Small	intestine
13	chr7:47817800-47821600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:47817800-47824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:47818000-47821600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:47818000-47821600	Weak transcription	NH-A	brain
17	chr7:47818400-47819400	Enhancers	HSMMtube	muscle
18	chr7:47818400-47819800	Genic enhancers	A549	lung
19	chr7:47818400-47822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:47818600-47819000	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:47818600-47819600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:47818600-47821600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:47818600-47821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:47818800-47819000	Enhancers	Small Intestine	intestine
25	chr7:47818800-47819200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:47818800-47819400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:47818800-47819400	Enhancers	Osteobl	bone

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