Variant report

Variant	rs6977129
Chromosome Location	chr7:112073918-112073919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1015417	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1557698	0.82[ASN][1000 genomes]
rs2396537	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2520468	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520469	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520472	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520479	0.82[ASN][1000 genomes]
rs2520480	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2520481	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2520483	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2520484	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2523036	0.83[ASN][1000 genomes]
rs2523043	0.81[ASN][1000 genomes]
rs2708593	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2708599	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36113101	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs728273	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9640740	0.85[ASN][1000 genomes]
rs991632	0.84[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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv831097	chr7:112000837-112113173	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	90 gene(s)	inside rSNPs	diseases
3	esv1801262	chr7:112071795-112104179	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112061000-112089800	Weak transcription	Aorta	Aorta
2	chr7:112064200-112088400	Weak transcription	Psoas Muscle	Psoas
3	chr7:112064400-112074800	Weak transcription	A549	lung
4	chr7:112065800-112079800	Weak transcription	Pancreas	Pancrea
5	chr7:112068600-112077200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:112071000-112077000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:112072400-112074600	Enhancers	Dnd41	blood
8	chr7:112072400-112074800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:112073200-112074200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:112073600-112074800	Weak transcription	NHEK	skin
11	chr7:112073600-112075000	Weak transcription	HMEC	breast
12	chr7:112073600-112075200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:112073800-112074000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:112073800-112074800	Weak transcription	HSMMtube	muscle
15	chr7:112073800-112075000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:112073800-112075000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:112073800-112075200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:112073800-112075400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:112073800-112082400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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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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