Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29140480..29142850-chr12:29145471..29147468,2	K562	blood:

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

rs_ID	r²[population]
rs11049963	0.92[ASN][1000 genomes]
rs11049980	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11049992	0.84[ASN][1000 genomes]
rs11050084	1.00[JPT][hapmap]
rs12298186	0.84[ASN][1000 genomes]
rs12302010	0.84[ASN][1000 genomes]
rs12302231	0.84[ASN][1000 genomes]
rs12304386	0.84[ASN][1000 genomes]
rs12311115	0.84[ASN][1000 genomes]
rs12317168	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1561131	1.00[JPT][hapmap]
rs1561132	1.00[JPT][hapmap]
rs17449204	1.00[ASN][1000 genomes]
rs17449238	1.00[ASN][1000 genomes]
rs2349971	1.00[JPT][hapmap]
rs28544897	0.84[ASN][1000 genomes]
rs4930856	1.00[JPT][hapmap]
rs66487137	0.84[ASN][1000 genomes]
rs67060812	0.84[ASN][1000 genomes]
rs67087836	0.84[ASN][1000 genomes]
rs67287552	0.84[ASN][1000 genomes]
rs67563394	0.84[ASN][1000 genomes]
rs67760969	0.84[ASN][1000 genomes]
rs73061737	0.84[ASN][1000 genomes]
rs73061745	0.84[ASN][1000 genomes]
rs73268857	0.84[ASN][1000 genomes]
rs73268858	0.84[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	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	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12298377	BICD1	cis	cerebellum	SCAN
rs12298377	IFLTD1	cis	parietal	SCAN
rs12298377	ERGIC2	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29140400-29141400	Enhancers	Liver	Liver
2	chr12:29140400-29141400	Enhancers	NHDF-Ad	bronchial
3	chr12:29140600-29141000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:29140600-29141200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:29140600-29141200	Enhancers	HepG2	liver
6	chr12:29140600-29141600	Enhancers	Adipose Nuclei	Adipose
7	chr12:29140800-29141200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:29140800-29141200	Enhancers	Fetal Intestine Large	intestine
9	chr12:29140800-29141400	Enhancers	Stomach Mucosa	stomach
10	chr12:29140800-29142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:29140800-29142000	Enhancers	Duodenum Smooth Muscle	Duodenum

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