Variant report

Variant	rs682769
Chromosome Location	chr8:102627955-102627956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102504239..102506791-chr8:102627887..102629436,2	MCF-7	breast:
2	chr8:102504779..102507162-chr8:102627473..102630274,3	MCF-7	breast:
3	chr8:102626664..102629265-chr8:102631491..102634297,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10955262	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10955263	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10955264	0.86[ASN][1000 genomes]
rs12546518	0.86[ASN][1000 genomes]
rs12681226	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1357984	0.90[CHD][hapmap];0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs2032118	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs2032119	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2032120	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28521662	0.86[ASN][1000 genomes]
rs4734029	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4734552	0.88[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734556	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6992430	0.90[CHD][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs682769	MATN2	cis	parietal	SCAN
rs682769	PABPC1	cis	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:102616800-102643800	Weak transcription	Gastric	stomach
4	chr8:102618000-102640800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:102619200-102631800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:102619600-102631800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:102619800-102656200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:102620800-102637800	Weak transcription	HUVEC	blood vessel
9	chr8:102621200-102635800	Weak transcription	Pancreas	Pancrea
10	chr8:102623400-102632000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:102623400-102635200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:102623800-102631600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:102623800-102631800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr8:102624000-102632200	Weak transcription	Placenta	Placenta
15	chr8:102624200-102635400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:102624600-102635200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:102624800-102632800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:102625200-102632000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102625400-102630800	Weak transcription	Hela-S3	cervix
20	chr8:102625400-102632000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:102625400-102635400	Weak transcription	Esophagus	oesophagus
22	chr8:102625400-102635400	Weak transcription	HMEC	breast
23	chr8:102625800-102628600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:102625800-102628800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:102626000-102631600	Weak transcription	NHEK	skin
26	chr8:102626600-102628400	Enhancers	Fetal Brain Male	brain
27	chr8:102626800-102628000	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:102627000-102628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:102627000-102628200	Enhancers	Fetal Intestine Small	intestine
30	chr8:102627400-102628200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr8:102627600-102632200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:102627600-102635800	Weak transcription	Fetal Kidney	kidney
33	chr8:102627800-102639000	Weak transcription	Stomach Mucosa	stomach
34	chr8:102627800-102643800	Weak transcription	Fetal Intestine Large	intestine

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