Variant report

Variant	rs6700588
Chromosome Location	chr1:56099371-56099372
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1039296	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1165472	0.93[CEU][hapmap];0.90[CHB][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1392140	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1499659	0.82[JPT][hapmap]
rs1533318	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs6659204	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs769995	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56089000-56104000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56096000-56103400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:56096800-56102800	Enhancers	Osteobl	bone
4	chr1:56097000-56099600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:56097000-56103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:56097000-56103400	Enhancers	NHDF-Ad	bronchial
7	chr1:56097600-56099600	Weak transcription	Aorta	Aorta
8	chr1:56097600-56100600	Weak transcription	Right Atrium	heart
9	chr1:56098000-56099400	Enhancers	Fetal Lung	lung
10	chr1:56098000-56099600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:56098000-56101200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:56098000-56101800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:56098200-56099400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:56098200-56100200	Weak transcription	A549	lung
15	chr1:56098400-56102200	Enhancers	NHLF	lung
16	chr1:56098600-56099800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:56098600-56100800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:56098800-56099400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:56098800-56105800	Weak transcription	Fetal Stomach	stomach
20	chr1:56099000-56100200	Weak transcription	Psoas Muscle	Psoas
21	chr1:56099000-56105200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:56099000-56106600	Weak transcription	Ovary	ovary
23	chr1:56099200-56100200	Weak transcription	HMEC	breast
24	chr1:56099200-56100400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:56099200-56100600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:56099200-56100800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:56099200-56100800	Enhancers	Hela-S3	cervix
28	chr1:56099200-56105800	Weak transcription	Fetal Kidney	kidney

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