Variant report

Variant	rs1013147
Chromosome Location	chr6:57124881-57124882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57117734..57121990-chr6:57123203..57126438,5	MCF-7	breast:
2	chr6:57117930..57121391-chr6:57123083..57125355,3	K562	blood:
3	chr6:57117930..57120024-chr6:57123463..57125355,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1013146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12191844	0.86[ASN][1000 genomes]
rs2064245	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6936915	0.83[ASN][1000 genomes]
rs7757492	0.82[EUR][1000 genomes]
rs7760349	0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9349850	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349851	0.86[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.83[ASN][1000 genomes]
rs9382695	0.80[CEU][hapmap];0.80[GIH][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs9396267	0.80[GIH][hapmap];0.88[TSI][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1013147	BEND6	cis	cerebellum	SCAN
rs1013147	COL21A1	cis	parietal	SCAN
rs1013147	HCRTR2	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57118400-57126600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:57118400-57128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:57123000-57127200	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:57123200-57125000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:57123200-57126200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:57123200-57126400	Weak transcription	NHLF	lung
7	chr6:57123200-57126600	Weak transcription	Adipose Nuclei	Adipose
8	chr6:57123200-57126600	Weak transcription	HSMMtube	muscle
9	chr6:57123200-57126600	Weak transcription	NH-A	brain
10	chr6:57123200-57127200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:57123200-57127200	Enhancers	Osteobl	bone
12	chr6:57123400-57130200	Weak transcription	Fetal Brain Male	brain
13	chr6:57123600-57126400	Weak transcription	Fetal Stomach	stomach
14	chr6:57123800-57126400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:57123800-57126600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:57123800-57126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:57123800-57130600	Enhancers	Colon Smooth Muscle	Colon
18	chr6:57124000-57126200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr6:57124000-57126600	Weak transcription	HSMM	muscle
20	chr6:57124200-57127200	Weak transcription	Aorta	Aorta
21	chr6:57124400-57126000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:57124400-57126200	Weak transcription	NHDF-Ad	bronchial
23	chr6:57124400-57126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:57124600-57127200	Weak transcription	Ovary	ovary
25	chr6:57124800-57125200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:57124800-57125600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:57124800-57126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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