Variant report

Variant	rs7309466
Chromosome Location	chr12:29334168-29334169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29301815..29303457-chr12:29332835..29335196,2	K562	blood:

Variant related genes	Relation type
ENSG00000064763	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10843330	0.91[CEU][hapmap];0.80[CHB][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843331	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843332	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843333	0.83[CEU][hapmap];0.80[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843334	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10843336	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843338	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050076	0.83[EUR][1000 genomes]
rs11050077	0.83[EUR][1000 genomes]
rs11050078	0.82[EUR][1000 genomes]
rs11050095	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050096	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050103	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050113	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050125	0.95[EUR][1000 genomes]
rs11050129	0.95[EUR][1000 genomes]
rs12306316	0.83[EUR][1000 genomes]
rs12581588	0.95[EUR][1000 genomes]
rs1390536	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1390537	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16933990	0.81[CHB][hapmap]
rs17707217	0.81[CHB][hapmap]
rs34844277	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73071989	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv437739	chr12:29329505-29338866	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2762969	chr12:29330008-29334901	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29322400-29335600	Weak transcription	Gastric	stomach
3	chr12:29325200-29335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:29328800-29354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:29330000-29335000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:29330200-29334800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:29330200-29335000	Weak transcription	HUVEC	blood vessel

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