Variant report

Variant	rs4723947
Chromosome Location	chr7:40341950-40341951
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245703	1.00[YRI][hapmap]
rs10246797	1.00[YRI][hapmap]
rs10257919	1.00[YRI][hapmap]
rs1948790	1.00[AFR][1000 genomes]
rs1948792	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2422302	1.00[YRI][hapmap]
rs4236365	1.00[AFR][1000 genomes]
rs4723943	1.00[YRI][hapmap]
rs4723944	1.00[YRI][hapmap]
rs4723945	1.00[YRI][hapmap]
rs6462969	1.00[YRI][hapmap]
rs7458417	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7790050	1.00[YRI][hapmap]
rs7792576	1.00[YRI][hapmap]
rs9942572	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032278	chr7:40097371-40396300	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv464438	chr7:40193535-40350887	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv606710	chr7:40193535-40350887	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv606711	chr7:40225129-40360257	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887985	chr7:40265510-40586674	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1033564	chr7:40273845-40417886	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv817404	chr7:40295934-40573605	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv887986	chr7:40311382-40425140	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv949540	chr7:40321357-40528147	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv520748	chr7:40332518-40425140	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1017909	chr7:40337109-40427634	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40317400-40344600	Weak transcription	Aorta	Aorta
2	chr7:40336800-40342000	Enhancers	NH-A	brain
3	chr7:40336800-40342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:40337000-40342600	Enhancers	HSMM	muscle
5	chr7:40339200-40342200	Enhancers	Osteobl	bone
6	chr7:40339200-40342600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:40339200-40344600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:40340000-40346400	Weak transcription	NHDF-Ad	bronchial
9	chr7:40340400-40342200	Enhancers	HSMMtube	muscle
10	chr7:40340400-40346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:40340600-40342200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:40340600-40346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:40341000-40342000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:40341200-40342000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:40341400-40343000	Weak transcription	HUVEC	blood vessel
16	chr7:40341400-40344200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:40341400-40344600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:40341800-40343600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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