Variant report

Variant	rs13273891
Chromosome Location	chr8:58986459-58986460
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	chr8:58906976..58908719-chr8:58984081..58986529,3	MCF-7	breast:
2	chr8:58980424..58983334-chr8:58985225..58988967,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10093645	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11998684	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12155558	0.81[ASN][1000 genomes]
rs12156321	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs13263290	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs13263507	1.00[CHB][hapmap]
rs13268233	1.00[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13277246	1.00[CHB][hapmap]
rs16922941	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs16922990	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17175390	0.85[CHB][hapmap]
rs17175804	0.85[CHB][hapmap]
rs17175965	0.85[CHB][hapmap]
rs17254739	0.85[CHB][hapmap];0.85[MEX][hapmap]
rs35134040	0.84[ASN][1000 genomes]
rs35350559	0.81[ASN][1000 genomes]
rs35979674	0.81[ASN][1000 genomes]
rs6984700	0.85[CHB][hapmap]
rs6988260	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6991555	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6997924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000317	0.81[ASN][1000 genomes]
rs7010934	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7823853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.83[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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Pit-and-Fissure caries	24556642	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13273891	IMPAD1	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58979400-58999600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:58979600-58988600	Weak transcription	Lung	lung
4	chr8:58980200-58988800	Weak transcription	Placenta	Placenta
5	chr8:58980400-58991400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:58980400-58994400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:58980600-58988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:58980600-58999600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:58980800-58989200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:58980800-58991600	Weak transcription	Osteobl	bone
11	chr8:58980800-58992000	Weak transcription	Fetal Intestine Small	intestine
12	chr8:58981200-58988800	Weak transcription	Ovary	ovary
13	chr8:58981200-58989600	Weak transcription	NHLF	lung
14	chr8:58982200-58986600	Weak transcription	HepG2	liver
15	chr8:58983000-58986800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:58983000-58989800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:58983200-58986800	Weak transcription	Spleen	Spleen
18	chr8:58983200-58988400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:58983200-58988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:58983400-58988400	Weak transcription	Gastric	stomach
21	chr8:58983400-59003800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:58983600-58993400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr8:58983600-59001200	Weak transcription	Fetal Kidney	kidney
24	chr8:58984000-59003600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:58984200-58991600	Weak transcription	NH-A	brain
26	chr8:58984400-58986600	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:58984400-58986600	Weak transcription	Fetal Stomach	stomach
28	chr8:58984400-58988000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:58984400-58999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:58984600-58987800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:58984600-58988400	Weak transcription	HSMMtube	muscle
32	chr8:58984600-58988600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:58984600-58989000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:58984600-58989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr8:58984600-58989800	Weak transcription	Brain Anterior Caudate	brain
36	chr8:58984600-58991400	Weak transcription	NHDF-Ad	bronchial
37	chr8:58984600-58991800	Weak transcription	Stomach Mucosa	stomach
38	chr8:58984600-58994400	Weak transcription	Brain Angular Gyrus	brain
39	chr8:58984600-59003200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:58984600-59004200	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:58984800-58986800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:58984800-58986800	Weak transcription	Psoas Muscle	Psoas
43	chr8:58984800-58986800	Weak transcription	Right Atrium	heart
44	chr8:58984800-58987200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:58984800-58988000	Weak transcription	HSMM	muscle
46	chr8:58984800-58988200	Enhancers	Fetal Heart	heart
47	chr8:58984800-58988400	Weak transcription	Brain Germinal Matrix	brain
48	chr8:58984800-58991400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr8:58984800-58991600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:58984800-58991600	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links