Variant report

Variant	rs12793607
Chromosome Location	chr11:71129316-71129317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1044482	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs11603330	0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.81[ASN][1000 genomes]
rs11606033	0.91[CHB][hapmap]
rs12419279	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs12419334	0.81[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.80[ASN][1000 genomes]
rs12422045	0.91[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];0.81[ASN][1000 genomes]
rs12785878	0.86[CHD][hapmap];0.88[GIH][hapmap]
rs12789253	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791871	0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap]
rs12797951	0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs12800438	0.86[CHD][hapmap];0.88[GIH][hapmap]
rs12803256	0.94[ASN][1000 genomes]
rs12806918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276360	0.82[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap]
rs2276362	0.86[CHD][hapmap];0.88[GIH][hapmap]
rs2282621	0.88[GIH][hapmap]
rs28364617	0.81[ASN][1000 genomes]
rs2852853	0.84[JPT][hapmap]
rs3750997	0.92[GIH][hapmap]
rs3763856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794060	0.86[CHD][hapmap];0.88[GIH][hapmap]
rs4944042	0.80[AMR][1000 genomes]
rs4944044	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944885	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944946	0.81[ASN][1000 genomes]
rs4944949	0.81[ASN][1000 genomes]
rs4944957	0.81[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap]
rs4944958	0.82[CHB][hapmap]
rs4944959	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap]
rs7928249	0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap]
rs7935125	0.87[JPT][hapmap]
rs7944926	0.82[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap]
rs909217	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832202	chr11:71088949-71131368	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
6	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs12793607	NADSYN1	cis	lymphoblastoid	seeQTL
rs12793607	TBX10	cis	cerebellum	SCAN
rs12793607	RP11-660L16.2	cis	Thyroid	GTEx
rs12793607	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx
rs12793607	DHCR7	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71123600-71139600	Weak transcription	Right Atrium	heart
2	chr11:71128600-71130800	Enhancers	Fetal Muscle Leg	muscle
3	chr11:71129000-71131800	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:71129200-71129800	Enhancers	HSMMtube	muscle
5	chr11:71129200-71130600	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:71129200-71131200	Enhancers	HSMM	muscle
7	chr11:71129200-71133600	Enhancers	Primary B cells from cord blood	blood
8	chr11:71129200-71134000	Enhancers	GM12878-XiMat	blood

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