Variant report

Variant	rs58604217
Chromosome Location	chr6:56803575-56803576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:56795022..56797639-chr6:56802844..56804905,2	K562	blood:
2	chr6:56802562..56804342-chr6:56819280..56821439,2	K562	blood:
3	chr6:56802562..56804218-chr6:56819280..56821126,2	K562	blood:

Variant related genes	Relation type
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs11962430	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11963350	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1451705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1451706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888222	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17685218	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17685235	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903331	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2122958	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35301163	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35818840	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35942895	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58721182	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59797084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61273855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411410	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62411427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62411428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459174	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6941401	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs746010	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296855	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9296856	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9464405	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9464407	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9475744	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv1022714	chr6:56729767-56826642	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv538229	chr6:56729767-56826642	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs58604217	BEND6	cis	lung	GTEx
rs58604217	BEND6	cis	Heart Left Ventricle	GTEx
rs58604217	BEND6	cis	Muscle Skeletal	GTEx
rs58604217	BEND6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56796200-56803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:56796800-56803800	Weak transcription	HSMMtube	muscle
3	chr6:56801000-56804400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:56802400-56803800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:56802400-56804400	Enhancers	NHDF-Ad	bronchial
6	chr6:56802400-56804400	Enhancers	NHLF	lung
7	chr6:56802600-56804200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:56802600-56804200	Enhancers	HSMM	muscle
9	chr6:56802600-56804400	Enhancers	HMEC	breast
10	chr6:56802600-56804400	Enhancers	NH-A	brain
11	chr6:56802600-56804400	Enhancers	Osteobl	bone
12	chr6:56803000-56804000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:56803000-56804000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:56803000-56804200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:56803000-56804200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:56803000-56804200	Enhancers	HUVEC	blood vessel
17	chr6:56803000-56804400	Enhancers	NHEK	skin
18	chr6:56803200-56803600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:56803200-56803600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:56803200-56803800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:56803200-56803800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:56803200-56803800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:56803200-56804400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:56803400-56803600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:56803400-56803600	Flanking Active TSS	Hela-S3	cervix
26	chr6:56803400-56803800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:56803400-56803800	Enhancers	Esophagus	oesophagus
28	chr6:56803400-56803800	Active TSS	A549	lung
29	chr6:56803400-56804000	Enhancers	K562	blood
30	chr6:56803400-56804400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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