Variant report

Variant	rs8091725
Chromosome Location	chr18:45660778-45660779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45659738..45661837-chr18:45663620..45665131,2	MCF-7	breast:
2	chr18:45658580..45662145-chr18:45664603..45667810,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184828	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12965052	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4076363	0.91[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.81[JPT][hapmap];0.96[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4076364	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4078130	0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs61322349	0.84[ASN][1000 genomes]
rs6507818	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243021	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7243437	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8092444	0.90[CHB][hapmap]
rs8098626	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9951415	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9953845	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8091725	CXXC1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45646200-45662000	Weak transcription	Right Atrium	heart
2	chr18:45656800-45661200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr18:45658800-45661000	Enhancers	Fetal Kidney	kidney
4	chr18:45658800-45662000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:45659000-45661400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr18:45659200-45660800	Enhancers	Fetal Stomach	stomach
7	chr18:45659200-45661200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:45659400-45661000	Enhancers	NHEK	skin
9	chr18:45659400-45661200	Enhancers	HMEC	breast
10	chr18:45659400-45661400	Enhancers	Duodenum Mucosa	Duodenum
11	chr18:45659400-45661600	Enhancers	Ovary	ovary
12	chr18:45659600-45661200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:45659600-45662000	Enhancers	Stomach Mucosa	stomach
14	chr18:45659800-45660800	Weak transcription	Esophagus	oesophagus
15	chr18:45659800-45660800	Weak transcription	Gastric	stomach
16	chr18:45659800-45661800	Weak transcription	Colonic Mucosa	Colon
17	chr18:45659800-45661800	Weak transcription	Lung	lung
18	chr18:45660000-45660800	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:45660000-45660800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr18:45660200-45660800	Enhancers	Liver	Liver
21	chr18:45660200-45662200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr18:45660400-45662200	Weak transcription	Pancreas	Pancrea
23	chr18:45660400-45662600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:45660400-45662600	Enhancers	Dnd41	blood
25	chr18:45660600-45660800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr18:45660600-45660800	Enhancers	Fetal Intestine Small	intestine
27	chr18:45660600-45661000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
28	chr18:45660600-45661000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:45660600-45661000	Bivalent Enhancer	Fetal Lung	lung
30	chr18:45660600-45661000	Enhancers	Hela-S3	cervix
31	chr18:45660600-45662000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links