Variant report

Variant	rs679152
Chromosome Location	chr1:84872780-84872781
allele	A/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	SP1	chr1:84872012-84872934	HCT-116	colon:	n/a	n/a
2	SP1	chr1:84871957-84872818	HCT-116	colon:	n/a	n/a
3	MAX	chr1:84871996-84872811	HCT-116	colon:	n/a	n/a
4	JUND	chr1:84872092-84872784	HCT-116	colon:	n/a	n/a
5	JUND	chr1:84872057-84872793	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
DNASE2B	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10493747	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10874438	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11163962	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12049602	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12118984	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12406723	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1246330	0.95[EUR][1000 genomes]
rs1246331	0.92[EUR][1000 genomes]
rs1588037	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17131704	0.93[ASN][1000 genomes]
rs500565	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs558268	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs646681	0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs6576704	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6661172	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs667923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511984	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7512262	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7514601	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7515964	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7516125	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541465	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7547088	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548231	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9432829	0.93[ASN][1000 genomes]
rs9433225	0.84[EUR][1000 genomes];0.94[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	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84869600-84873600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:84869800-84873400	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr1:84870200-84874200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:84871000-84874400	Enhancers	Fetal Intestine Large	intestine
5	chr1:84871200-84874200	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:84871200-84874400	Enhancers	Fetal Intestine Small	intestine
7	chr1:84871400-84873600	Weak transcription	Colonic Mucosa	Colon
8	chr1:84871800-84873000	Enhancers	HMEC	breast
9	chr1:84872000-84872800	Enhancers	NHEK	skin
10	chr1:84872000-84873200	Enhancers	Osteobl	bone
11	chr1:84872000-84873600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr1:84872000-84874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:84872000-84876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:84872200-84872800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:84872200-84872800	Enhancers	HUVEC	blood vessel
16	chr1:84872200-84873000	Enhancers	K562	blood
17	chr1:84872200-84874200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:84872200-84874400	Enhancers	Stomach Mucosa	stomach
19	chr1:84872400-84873600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:84872400-84875000	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:84872400-84876800	Weak transcription	Gastric	stomach
22	chr1:84872600-84872800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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