Variant report

Variant	rs6470764
Chromosome Location	chr8:130725665-130725666
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130719927..130722565-chr8:130723755..130726675,2	MCF-7	breast:
2	chr8:130724777..130726937-chr8:130738994..130740773,2	K562	blood:
3	chr8:130721029..130723097-chr8:130725235..130727750,2	K562	blood:
4	chr8:128748320..128750405-chr8:130724803..130726595,2	K562	blood:
5	chr8:130717459..130720769-chr8:130721541..130726036,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10104593	0.83[ASN][1000 genomes]
rs10109335	0.83[EUR][1000 genomes]
rs1074286	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808583	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956487	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10956488	0.82[AMR][1000 genomes]
rs10956490	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956491	0.83[EUR][1000 genomes]
rs11984666	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989396	0.83[EUR][1000 genomes]
rs2062078	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886937	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3886938	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4128895	0.83[EUR][1000 genomes]
rs4130415	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4144736	0.95[CHB][hapmap]
rs4144738	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4236748	0.83[EUR][1000 genomes]
rs4335095	0.83[ASN][1000 genomes]
rs4345520	0.83[ASN][1000 genomes]
rs4366050	0.83[EUR][1000 genomes]
rs4367506	0.83[EUR][1000 genomes]
rs4425724	0.95[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs4509279	0.83[EUR][1000 genomes]
rs4559213	0.83[EUR][1000 genomes]
rs4571702	0.83[ASN][1000 genomes]
rs4613961	0.83[EUR][1000 genomes]
rs4633026	0.83[EUR][1000 genomes]
rs4733724	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4733725	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4733726	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4733727	0.84[ASN][1000 genomes]
rs4733728	0.84[ASN][1000 genomes]
rs4733732	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4733737	0.83[EUR][1000 genomes]
rs4733738	0.83[EUR][1000 genomes]
rs60228607	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61199848	0.83[EUR][1000 genomes]
rs6470763	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470765	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6470766	0.83[EUR][1000 genomes]
rs6470768	0.83[EUR][1000 genomes]
rs6470769	0.83[EUR][1000 genomes]
rs6470770	0.83[EUR][1000 genomes]
rs6470771	0.83[EUR][1000 genomes]
rs6470772	0.83[EUR][1000 genomes]
rs6470773	0.83[EUR][1000 genomes]
rs6470778	0.83[EUR][1000 genomes]
rs6651255	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6983071	0.83[EUR][1000 genomes]
rs6984575	0.83[EUR][1000 genomes]
rs6985118	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6986256	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6994279	0.83[EUR][1000 genomes]
rs6998296	0.82[EUR][1000 genomes]
rs6998472	0.83[EUR][1000 genomes]
rs7004355	0.83[ASN][1000 genomes]
rs7011557	0.83[EUR][1000 genomes]
rs7012062	0.83[EUR][1000 genomes]
rs7012249	0.83[EUR][1000 genomes]
rs7016313	0.83[EUR][1000 genomes]
rs7017052	0.83[EUR][1000 genomes]
rs7017235	0.83[EUR][1000 genomes]
rs7341636	0.84[ASN][1000 genomes]
rs7388479	0.81[ASN][1000 genomes]
rs7814941	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7815955	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816131	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816342	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7816625	0.82[ASN][1000 genomes]
rs7826493	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7828785	0.82[ASN][1000 genomes]
rs7833174	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7839339	0.83[EUR][1000 genomes]
rs7841981	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7844275	0.83[EUR][1000 genomes]
rs7846627	0.95[CHB][hapmap];0.80[JPT][hapmap];0.84[ASN][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	nsv8387	chr8:130711059-130756654	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv891447	chr8:130724556-130754719	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Infant length	25281659	GWAS catalog
Height	20881960	GWAS catalog

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130723200-130734600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130723400-130726800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:130723400-130740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:130724000-130726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:130724600-130726800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:130724600-130727800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:130724800-130726600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:130725000-130725800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:130725200-130726000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr8:130725200-130726200	Enhancers	NHDF-Ad	bronchial
11	chr8:130725400-130726200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:130725600-130725800	Weak transcription	HSMMtube	muscle
13	chr8:130725600-130726200	Enhancers	Fetal Stomach	stomach
14	chr8:130725600-130726200	Enhancers	A549	lung
15	chr8:130725600-130726600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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