Variant report

Variant	rs928505
Chromosome Location	chr6:132298141-132298142
allele	C/T
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..6:132298035-132298856	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227220	Chromatin interaction
ENSG00000118523	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12527379	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs1475723	0.89[LWK][hapmap];0.82[YRI][hapmap]
rs1813069	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1931000	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2095252	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs928503	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs928504	0.81[YRI][hapmap];0.83[AFR][1000 genomes]
rs9388949	0.84[TSI][hapmap]
rs9388953	0.89[LWK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs9483365	0.82[YRI][hapmap]

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	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv470861	chr6:132291785-132351866	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs928505	RP3-523C21.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132275600-132299800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:132277400-132305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:132292800-132301600	Weak transcription	Stomach Mucosa	stomach
4	chr6:132296600-132299200	Enhancers	Osteobl	bone
5	chr6:132296600-132304400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:132296800-132301400	Weak transcription	Fetal Kidney	kidney
7	chr6:132297000-132305400	Enhancers	Liver	Liver
8	chr6:132297200-132299000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:132297200-132299000	Enhancers	Fetal Heart	heart
10	chr6:132297400-132298400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:132297400-132298400	Flanking Active TSS	HepG2	liver
12	chr6:132297400-132298600	Enhancers	NH-A	brain
13	chr6:132297400-132298800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:132297600-132298400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:132297600-132298600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:132297600-132298600	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr6:132297800-132298200	Enhancers	Aorta	Aorta
18	chr6:132297800-132298200	Enhancers	Ovary	ovary
19	chr6:132297800-132298400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:132297800-132298400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:132297800-132298600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:132297800-132298600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr6:132297800-132298800	Enhancers	Colon Smooth Muscle	Colon
24	chr6:132298000-132298200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:132298000-132298200	Enhancers	Pancreas	Pancrea
26	chr6:132298000-132298200	Enhancers	Right Atrium	heart
27	chr6:132298000-132298400	Enhancers	Fetal Intestine Small	intestine
28	chr6:132298000-132298600	Enhancers	Fetal Lung	lung
29	chr6:132298000-132298600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr6:132298000-132299600	Weak transcription	Fetal Intestine Large	intestine
31	chr6:132298000-132299800	Weak transcription	HUVEC	blood vessel
32	chr6:132298000-132303000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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