Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47189132..47192118-chr12:47192545..47194252,2	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10161209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10437941	0.85[ASN][1000 genomes]
rs11183610	0.85[CHB][hapmap]
rs11183618	0.92[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12301214	0.85[CHB][hapmap]
rs12305532	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12307687	0.82[CHB][hapmap]
rs12318924	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12321267	0.92[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12424453	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12581848	0.92[CEU][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17097246	0.85[CHB][hapmap]
rs1860372	0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2079787	0.85[CEU][hapmap];0.85[YRI][hapmap]
rs2191162	0.85[YRI][hapmap]
rs2250010	0.84[YRI][hapmap]
rs2465604	0.83[YRI][hapmap]
rs2465605	0.82[YRI][hapmap]
rs3862137	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4447249	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4482114	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4768758	0.85[CHB][hapmap]
rs4768759	0.85[CHB][hapmap]
rs6582676	0.85[CHB][hapmap]
rs73283958	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73283960	0.82[AMR][1000 genomes];0.85[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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47181000-47194200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:47182400-47194200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:47187800-47209400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:47189000-47197000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:47189400-47195400	Weak transcription	HSMM	muscle
6	chr12:47192200-47194800	Flanking Active TSS	Liver	Liver
7	chr12:47192200-47197400	Weak transcription	Psoas Muscle	Psoas
8	chr12:47192400-47196200	Enhancers	HepG2	liver
9	chr12:47193800-47194400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:47193800-47194400	Enhancers	Pancreas	Pancrea

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