Variant report

Variant	rs9493247
Chromosome Location	chr6:132557020-132557021
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	6:132269655-132282174..6:132556576-132559814	GM12878	blood:
2	6:132182612-132191683..6:132556576-132559814	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction
ENSG00000118523	Chromatin interaction
ENSG00000227220	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10080410	0.81[AFR][1000 genomes]
rs10085235	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12111309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13437394	1.00[YRI][hapmap]
rs13437560	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs57178246	0.81[AFR][1000 genomes]
rs60216627	0.81[AFR][1000 genomes]
rs6569785	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs6569786	0.87[AFR][1000 genomes]
rs6918490	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6918720	0.81[AFR][1000 genomes]
rs6920531	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7745723	0.81[AFR][1000 genomes]
rs7762252	0.81[AFR][1000 genomes]
rs7772465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321335	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9493259	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9493268	0.81[AFR][1000 genomes]
rs9493270	0.81[AFR][1000 genomes]
rs9493274	0.85[YRI][hapmap];0.81[AFR][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	esv2762616	chr6:132404708-132584324	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1024527	chr6:132532941-132571889	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132552200-132562400	Weak transcription	Psoas Muscle	Psoas
2	chr6:132553000-132557600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:132553800-132557800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:132555600-132558200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr6:132555600-132558400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:132555800-132557600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:132556000-132557200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:132556200-132557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:132556200-132558000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:132556400-132558600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:132556600-132557400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:132556600-132557400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:132556600-132557800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:132556600-132558000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:132556600-132558200	Enhancers	NHLF	lung
16	chr6:132556600-132558200	Enhancers	Osteobl	bone
17	chr6:132556800-132557200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:132556800-132558200	Enhancers	HMEC	breast
19	chr6:132556800-132558200	Enhancers	HSMMtube	muscle
20	chr6:132556800-132558400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:132557000-132558000	Enhancers	HSMM	muscle
22	chr6:132557000-132558200	Enhancers	NH-A	brain
23	chr6:132557000-132558400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:132557000-132558800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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