Variant report

Variant	rs6459182
Chromosome Location	chr6:57126898-57126899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57125429..57127143-chr6:57128713..57131182,2	K562	blood:
2	chr6:57126469..57129335-chr6:57130714..57132915,2	MCF-7	breast:
3	chr6:57125298..57127143-chr6:57127818..57130213,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10949015	0.94[ASN][1000 genomes]
rs10949016	0.86[ASN][1000 genomes]
rs2109640	0.84[ASN][1000 genomes]
rs223291	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs7757492	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9349851	0.81[GIH][hapmap]
rs9367716	0.91[ASN][1000 genomes]
rs9370571	0.99[ASN][1000 genomes]
rs9370572	0.96[ASN][1000 genomes]
rs9382695	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MKK][hapmap];0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9396266	0.86[ASN][1000 genomes]
rs9396267	1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9396269	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9475818	0.91[ASN][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	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
rs6459182	HCRTR2	cis	parietal	SCAN
rs6459182	COL21A1	cis	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57118400-57128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:57123000-57127200	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:57123200-57127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:57123200-57127200	Enhancers	Osteobl	bone
5	chr6:57123400-57130200	Weak transcription	Fetal Brain Male	brain
6	chr6:57123800-57130600	Enhancers	Colon Smooth Muscle	Colon
7	chr6:57124200-57127200	Weak transcription	Aorta	Aorta
8	chr6:57124600-57127200	Weak transcription	Ovary	ovary
9	chr6:57125200-57133200	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:57125600-57128800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:57126200-57127200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:57126200-57127200	Enhancers	NHDF-Ad	bronchial
13	chr6:57126200-57128400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:57126400-57127400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:57126400-57127600	Enhancers	Psoas Muscle	Psoas
16	chr6:57126400-57128800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:57126400-57128800	Enhancers	Fetal Stomach	stomach
18	chr6:57126400-57129200	Enhancers	NHLF	lung
19	chr6:57126400-57130800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:57126600-57127200	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:57126600-57127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:57126600-57127600	Enhancers	Fetal Muscle Trunk	muscle
23	chr6:57126600-57128400	Enhancers	Adipose Nuclei	Adipose
24	chr6:57126600-57128400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:57126600-57128600	Enhancers	HSMMtube	muscle
26	chr6:57126600-57128800	Enhancers	HSMM	muscle
27	chr6:57126600-57129000	Enhancers	NH-A	brain
28	chr6:57126800-57127600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:57126800-57128200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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