Variant report

Variant	rs6976521
Chromosome Location	chr7:48677021-48677022
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11185609	0.82[YRI][hapmap]
rs12538472	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17132511	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17132514	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17132520	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4517068	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs56328624	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58043122	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66481137	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66727510	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67429470	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67925221	0.90[AMR][1000 genomes]
rs6948549	0.93[EUR][1000 genomes]
rs7802150	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7807488	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv606894	chr7:48663637-48718598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48672400-48683000	Weak transcription	Fetal Lung	lung
2	chr7:48672600-48677200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:48672600-48679600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:48672600-48688800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:48674800-48678200	Enhancers	Fetal Heart	heart
6	chr7:48675000-48677800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:48675200-48678000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:48675600-48678200	Enhancers	HMEC	breast
9	chr7:48675800-48677200	Enhancers	Left Ventricle	heart
10	chr7:48675800-48677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:48675800-48677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:48675800-48677600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:48676000-48677600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr7:48676000-48678200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:48676200-48677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:48676200-48678000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:48676200-48678000	Enhancers	NH-A	brain
18	chr7:48676200-48679000	Weak transcription	Right Ventricle	heart
19	chr7:48676400-48677200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:48676600-48677800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:48676600-48677800	Enhancers	NHEK	skin
22	chr7:48676800-48683200	Weak transcription	Right Atrium	heart
23	chr7:48677000-48677400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:48677000-48677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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