Variant report

Variant	rs34752771
Chromosome Location	chr6:56796240-56796241
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56795022..56797639-chr6:56802844..56804905,2	K562	blood:
2	chr6:56793845..56796346-chr6:150069714..150072289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120253	Chromatin interaction
ENSG00000120265	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11963379	1.00[ASN][1000 genomes]
rs13215865	0.81[EUR][1000 genomes]
rs13220510	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1451707	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1451708	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1460561	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1599280	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1599281	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17450853	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17685143	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17685185	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752412	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752435	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17752459	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1903330	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34232358	0.81[EUR][1000 genomes]
rs34259328	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34714091	0.81[EUR][1000 genomes]
rs34733863	0.81[EUR][1000 genomes]
rs34812189	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35202312	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35434542	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35527216	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35860642	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35961728	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36112505	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4490669	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55786720	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56030203	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58338781	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59524770	1.00[ASN][1000 genomes]
rs60547490	1.00[ASN][1000 genomes]
rs61340009	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71550519	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71564866	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71564868	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459728	0.91[ASN][1000 genomes]
rs73459729	1.00[ASN][1000 genomes]
rs73459735	1.00[ASN][1000 genomes]
rs73463711	1.00[ASN][1000 genomes]
rs748996	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475745	1.00[ASN][1000 genomes]
rs9475752	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv5315	chr6:56752042-56798761	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34752771	BEND6	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56790400-56799800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:56792800-56802400	Weak transcription	A549	lung
3	chr6:56793000-56797000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:56793000-56797400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:56793000-56802600	Weak transcription	HSMM	muscle
6	chr6:56793200-56797200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:56793200-56797200	Weak transcription	GM12878-XiMat	blood
8	chr6:56793200-56797200	Weak transcription	NHLF	lung
9	chr6:56793200-56797200	Weak transcription	Osteobl	bone
10	chr6:56793200-56798000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:56793200-56798200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:56793200-56799000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr6:56793200-56799800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:56793200-56802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:56793200-56803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:56793200-56803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:56793200-56803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:56793200-56803200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:56793400-56797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:56793400-56797200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:56793400-56797400	Weak transcription	NHDF-Ad	bronchial
22	chr6:56793400-56798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr6:56793800-56797000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:56795000-56797800	Weak transcription	Hela-S3	cervix
25	chr6:56796000-56799600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:56796200-56803800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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