Variant report

Variant	rs56059620
Chromosome Location	chr6:131324798-131324799
allele	C/T
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	TEAD4	chr6:131324627-131325380	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr6:131324785-131325236	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131322621..131325440-chr6:131350090..131351837,2	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10499180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11968011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1406456	1.00[ASN][1000 genomes]
rs1528863	1.00[ASN][1000 genomes]
rs17060018	1.00[ASN][1000 genomes]
rs1977577	1.00[ASN][1000 genomes]
rs2151070	1.00[ASN][1000 genomes]
rs55677017	1.00[ASN][1000 genomes]
rs55741945	1.00[ASN][1000 genomes]
rs55812292	1.00[ASN][1000 genomes]
rs55909138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56009627	1.00[ASN][1000 genomes]
rs56091933	1.00[ASN][1000 genomes]
rs57155718	1.00[ASN][1000 genomes]
rs58822839	1.00[ASN][1000 genomes]
rs60446197	1.00[ASN][1000 genomes]
rs60773361	1.00[ASN][1000 genomes]
rs60836114	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6908393	1.00[ASN][1000 genomes]
rs73621523	1.00[ASN][1000 genomes]
rs73621528	1.00[ASN][1000 genomes]
rs73621566	1.00[ASN][1000 genomes]
rs73621574	1.00[ASN][1000 genomes]
rs73621588	1.00[ASN][1000 genomes]
rs73623380	1.00[ASN][1000 genomes]
rs73623396	1.00[ASN][1000 genomes]
rs73623492	1.00[ASN][1000 genomes]
rs73625103	1.00[ASN][1000 genomes]
rs73625624	1.00[ASN][1000 genomes]
rs73774338	1.00[ASN][1000 genomes]
rs73774368	1.00[ASN][1000 genomes]
rs73774374	1.00[ASN][1000 genomes]
rs73774376	1.00[ASN][1000 genomes]
rs73774379	1.00[ASN][1000 genomes]
rs73775907	1.00[ASN][1000 genomes]
rs73775910	0.87[ASN][1000 genomes]
rs73775913	0.87[ASN][1000 genomes]
rs7741112	1.00[ASN][1000 genomes]
rs7761647	1.00[ASN][1000 genomes]
rs7766938	1.00[ASN][1000 genomes]
rs871628	1.00[ASN][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
4	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:131319000-131324800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:131319000-131325000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:131319000-131325600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:131319400-131324800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:131319600-131324800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:131320400-131325200	Weak transcription	Right Ventricle	heart
12	chr6:131321000-131326600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:131321400-131325600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:131321800-131327200	Enhancers	Fetal Stomach	stomach
15	chr6:131322000-131325600	Weak transcription	Stomach Mucosa	stomach
16	chr6:131322400-131325800	Weak transcription	Placenta	Placenta
17	chr6:131322400-131327000	Enhancers	Brain Substantia Nigra	brain
18	chr6:131322600-131325000	Weak transcription	Lung	lung
19	chr6:131322600-131325200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:131322600-131326600	Enhancers	Brain Hippocampus Middle	brain
21	chr6:131322600-131326800	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:131322600-131327000	Enhancers	Brain Anterior Caudate	brain
23	chr6:131322600-131327000	Enhancers	Fetal Lung	lung
24	chr6:131322600-131333200	Weak transcription	Pancreas	Pancrea
25	chr6:131322800-131324800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:131323000-131325600	Enhancers	Adipose Nuclei	Adipose
27	chr6:131323200-131325200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:131323200-131325400	Enhancers	Osteobl	bone
29	chr6:131323200-131326000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:131323400-131325600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:131323600-131324800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:131323600-131324800	Weak transcription	Brain Angular Gyrus	brain
33	chr6:131323600-131325000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:131323600-131325000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:131323600-131325000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:131323600-131325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:131323600-131325000	Weak transcription	Fetal Intestine Small	intestine
38	chr6:131323600-131325000	Weak transcription	Left Ventricle	heart
39	chr6:131323600-131325000	Weak transcription	Ovary	ovary
40	chr6:131323600-131325000	Weak transcription	Right Atrium	heart
41	chr6:131323600-131325000	Weak transcription	HSMMtube	muscle
42	chr6:131323600-131325000	Weak transcription	K562	blood
43	chr6:131323600-131325200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:131323600-131325600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:131323600-131325600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:131323600-131325600	Weak transcription	Spleen	Spleen
47	chr6:131323600-131326600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:131323600-131327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr6:131323600-131327800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:131323600-131328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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