Variant report

Variant	rs7430585
Chromosome Location	chr3:150112041-150112042
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150076190..150078663-chr3:150110985..150112946,2	MCF-7	breast:
2	chr3:150110814..150113461-chr3:150215165..150218125,2	K562	blood:
3	chr3:150111999..150114822-chr3:150116151..150119153,3	K562	blood:
4	chr3:150111194..150113689-chr3:150123124..150124651,2	MCF-7	breast:
5	chr3:150111434..150116692-chr3:150125467..150130603,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196428	Chromatin interaction

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

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

rs_ID	r²[population]
rs10154963	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804747	0.86[ASN][1000 genomes]
rs13066779	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1450343	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1463229	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1466131	0.86[ASN][1000 genomes]
rs1562787	0.86[ASN][1000 genomes]
rs4323025	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6414375	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763422	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6770312	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6778948	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6785158	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6803715	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7642773	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9843097	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9844184	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855441	0.84[ASN][1000 genomes]
rs9881867	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[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	nsv829755	chr3:149992023-150156001	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	esv1828464	chr3:150096071-150149868	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv877645	chr3:150103135-150212698	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150102800-150118200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr3:150103600-150112200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:150107200-150112400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:150107600-150114400	Weak transcription	Fetal Heart	heart
6	chr3:150109200-150112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:150109200-150124400	Weak transcription	HSMM	muscle
8	chr3:150109200-150124600	Weak transcription	NHLF	lung
9	chr3:150109400-150114400	Weak transcription	HSMMtube	muscle
10	chr3:150109400-150114600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:150109600-150112400	Weak transcription	NHDF-Ad	bronchial
12	chr3:150109600-150114800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:150109600-150116800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:150109600-150121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr3:150109800-150114600	Weak transcription	HUVEC	blood vessel
16	chr3:150111200-150112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:150111400-150113200	Enhancers	Fetal Intestine Large	intestine
18	chr3:150111600-150114200	Weak transcription	Fetal Lung	lung
19	chr3:150111800-150112200	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:150112000-150116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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