Variant report

Variant	rs35094428
Chromosome Location	chr12:76063958-76063959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76059625..76062519-chr12:76062834..76067241,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11180624	1.00[ASN][1000 genomes]
rs11180625	0.93[ASN][1000 genomes]
rs11180639	0.90[ASN][1000 genomes]
rs11180640	0.90[ASN][1000 genomes]
rs11180644	0.82[ASN][1000 genomes]
rs12315800	0.88[ASN][1000 genomes]
rs12319659	0.90[ASN][1000 genomes]
rs12822896	0.90[ASN][1000 genomes]
rs12826237	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17223072	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17223194	0.88[ASN][1000 genomes]
rs17223651	0.90[ASN][1000 genomes]
rs2367073	0.90[ASN][1000 genomes]
rs2367074	0.90[ASN][1000 genomes]
rs34724924	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs35813830	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35881531	0.84[EUR][1000 genomes]
rs67943440	0.92[ASN][1000 genomes]
rs7132221	0.90[ASN][1000 genomes]
rs71460142	0.90[ASN][1000 genomes]
rs71460144	0.90[ASN][1000 genomes]
rs7295259	0.90[ASN][1000 genomes]
rs7295484	0.90[ASN][1000 genomes]
rs7295806	0.90[ASN][1000 genomes]
rs73124349	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7313785	0.90[ASN][1000 genomes]
rs7967547	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76045000-76064400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:76056600-76064800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:76059800-76065800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:76061200-76064800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:76061200-76065200	Weak transcription	NHEK	skin
6	chr12:76061200-76066000	Weak transcription	HMEC	breast
7	chr12:76061400-76065400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:76061400-76065400	Weak transcription	Fetal Stomach	stomach
9	chr12:76061400-76065800	Weak transcription	Fetal Lung	lung
10	chr12:76061400-76066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:76061400-76067400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:76061800-76066000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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