Variant report

Variant	rs2764204
Chromosome Location	chr6:34711467-34711468
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:34711463-34711642	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34709940..34711491-chr6:34711698..34713387,2	K562	blood:

Variant related genes	Relation type
ENSG00000217130	TF binding region
ENSG00000217130	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11756392	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11759235	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1555773	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16894959	0.85[EUR][1000 genomes]
rs1883638	0.88[EUR][1000 genomes]
rs2395607	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2744947	0.83[EUR][1000 genomes]
rs2744972	0.83[EUR][1000 genomes]
rs2764203	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2764205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2814948	0.88[EUR][1000 genomes]
rs2814960	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2814962	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28567450	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3736896	0.90[AFR][1000 genomes]
rs3800457	0.83[EUR][1000 genomes]
rs4472337	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56693020	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56930444	0.82[EUR][1000 genomes]
rs59142559	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60643641	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61431557	0.90[EUR][1000 genomes]
rs6457790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6911549	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6936177	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6938239	0.91[EUR][1000 genomes]
rs73419607	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73419621	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7755822	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7762485	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9296130	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9462012	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9462014	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9462016	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9462025	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9462029	0.88[EUR][1000 genomes]
rs9469860	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9469864	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9469890	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9469895	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9469897	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9469900	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9469907	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9469910	0.86[EUR][1000 genomes]
rs9469911	0.85[EUR][1000 genomes]
rs9469913	0.86[EUR][1000 genomes]
rs9654581	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9688715	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv965713	chr6:34708188-34713851	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2764204	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
2	chr6:34699800-34712200	Weak transcription	Stomach Mucosa	stomach
3	chr6:34706400-34712800	Enhancers	HepG2	liver
4	chr6:34708400-34712800	Weak transcription	A549	lung
5	chr6:34708600-34712200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:34708600-34712200	Weak transcription	Fetal Intestine Small	intestine
7	chr6:34708600-34712600	Weak transcription	Hela-S3	cervix
8	chr6:34708600-34713000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:34708600-34713200	Weak transcription	Liver	Liver
10	chr6:34709000-34711600	Weak transcription	Fetal Intestine Large	intestine
11	chr6:34709000-34712800	Weak transcription	K562	blood
12	chr6:34709400-34712200	Weak transcription	Small Intestine	intestine
13	chr6:34711200-34712800	Enhancers	NHEK	skin
14	chr6:34711200-34713200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:34711200-34713200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:34711400-34711600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:34711400-34714600	Enhancers	Placenta	Placenta

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