Variant report

Variant	rs73775906
Chromosome Location	chr6:131385717-131385718
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	MAFF	chr6:131385524-131385747	HepG2	liver:	n/a	chr6:131385624-131385638 chr6:131385618-131385636
2	MAFK	chr6:131385463-131385784	HepG2	liver:	n/a	chr6:131385621-131385641 chr6:131385623-131385639
3	MAFK	chr6:131385482-131385746	HepG2	liver:	n/a	chr6:131385621-131385641 chr6:131385623-131385639

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:
2	chr6:131383272..131386235-chr6:131948272..131950497,3	MCF-7	breast:

Variant related genes	Relation type
EPB41L2	TF binding region
ENSG00000112282	Chromatin interaction
ENSG00000154269	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56137242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58565651	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60494097	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61440162	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774378	1.00[AFR][1000 genomes]
rs73774381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73774384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131385000-131389000	Weak transcription	Fetal Brain Male	brain
2	chr6:131385200-131386200	Weak transcription	HSMM	muscle
3	chr6:131385200-131386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:131385200-131386400	Weak transcription	HMEC	breast
5	chr6:131385200-131386400	Weak transcription	HSMMtube	muscle
6	chr6:131385200-131386400	Weak transcription	NHEK	skin
7	chr6:131385200-131386600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:131385200-131386600	Weak transcription	Small Intestine	intestine
9	chr6:131385200-131387200	Enhancers	Stomach Mucosa	stomach
10	chr6:131385200-131387400	Enhancers	Fetal Intestine Small	intestine
11	chr6:131385200-131387600	Enhancers	Fetal Intestine Large	intestine
12	chr6:131385200-131389800	Weak transcription	Aorta	Aorta
13	chr6:131385400-131386000	Enhancers	HepG2	liver
14	chr6:131385400-131386400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:131385400-131386400	Weak transcription	Colonic Mucosa	Colon
16	chr6:131385400-131386400	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:131385400-131386400	Weak transcription	Osteobl	bone
18	chr6:131385400-131386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:131385400-131386600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr6:131385400-131386800	Weak transcription	K562	blood
21	chr6:131385400-131387400	Enhancers	Duodenum Mucosa	Duodenum
22	chr6:131385400-131387400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr6:131385400-131388600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:131385600-131386000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:131385600-131386000	Weak transcription	A549	lung
26	chr6:131385600-131386000	Weak transcription	Hela-S3	cervix

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