Variant report

Variant	rs2064245
Chromosome Location	chr6:57117624-57117625
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	chr6:57113358..57115566-chr6:57117101..57119304,2	K562	blood:
2	chr6:57109670..57112640-chr6:57116745..57119088,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1013146	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1013147	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12191844	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs530617	0.83[ASN][1000 genomes]
rs7760349	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9349850	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9349851	0.89[CHD][hapmap]

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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1034095	chr6:57102042-57162808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528165	chr6:57104266-57130574	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2064245	HCRTR2	cis	parietal	SCAN
rs2064245	BEND6	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57116600-57119400	Enhancers	Colon Smooth Muscle	Colon
2	chr6:57116600-57120000	Enhancers	Rectal Smooth Muscle	rectum
3	chr6:57116800-57118600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:57117200-57118400	Enhancers	Psoas Muscle	Psoas
5	chr6:57117200-57119200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:57117200-57119200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:57117200-57119200	Enhancers	Ovary	ovary
8	chr6:57117200-57119400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:57117200-57119400	Enhancers	Fetal Stomach	stomach
10	chr6:57117200-57119600	Enhancers	Stomach Smooth Muscle	stomach
11	chr6:57117400-57118400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:57117400-57118400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:57117400-57118800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:57117400-57118800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr6:57117400-57119000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:57117400-57119000	Enhancers	NHDF-Ad	bronchial
17	chr6:57117400-57119400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:57117400-57119400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:57117600-57117800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:57117600-57118200	Enhancers	NH-A	brain
21	chr6:57117600-57118400	Enhancers	HSMMtube	muscle
22	chr6:57117600-57118800	Enhancers	Fetal Kidney	kidney
23	chr6:57117600-57118800	Enhancers	Fetal Lung	lung
24	chr6:57117600-57118800	Enhancers	NHLF	lung
25	chr6:57117600-57118800	Enhancers	Osteobl	bone
26	chr6:57117600-57120000	Enhancers	HepG2	liver

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