Variant report

Variant	rs6656988
Chromosome Location	chr1:62716277-62716278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17123044	0.82[ASW][hapmap];1.00[MEX][hapmap]
rs1925826	1.00[MEX][hapmap]
rs2886600	1.00[AMR][1000 genomes]
rs57413303	1.00[AMR][1000 genomes]
rs57469611	1.00[AMR][1000 genomes]
rs58323492	1.00[AMR][1000 genomes]
rs59107355	1.00[AMR][1000 genomes]
rs60767478	1.00[AMR][1000 genomes]
rs6657288	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673857	1.00[AMR][1000 genomes]
rs6697726	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702709	1.00[AFR][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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
2	chr1:62707600-62719600	Weak transcription	Fetal Kidney	kidney
3	chr1:62707600-62732000	Weak transcription	Gastric	stomach
4	chr1:62707800-62727400	Weak transcription	Pancreas	Pancrea
5	chr1:62708200-62720000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:62710800-62731800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:62711400-62718000	Weak transcription	HepG2	liver
8	chr1:62711600-62730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:62711600-62737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:62712000-62727400	Weak transcription	Fetal Lung	lung
11	chr1:62712000-62731600	Weak transcription	Placenta	Placenta
12	chr1:62712200-62716400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:62713400-62728800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:62713800-62718000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:62714000-62717800	Weak transcription	Fetal Heart	heart
16	chr1:62714200-62716400	Weak transcription	Adipose Nuclei	Adipose
17	chr1:62715400-62717000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:62715800-62716400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:62715800-62716800	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:62715800-62716800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:62716200-62716800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:62716200-62719200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:62716200-62719600	Strong transcription	Fetal Stomach	stomach

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