Variant report

Variant	rs13078237
Chromosome Location	chr3:134062362-134062363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10935116	1.00[CHB][hapmap]
rs11707704	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11917363	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs11919447	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs11923513	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs11928672	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs11928742	1.00[CHB][hapmap]
rs12487438	1.00[CHB][hapmap]
rs13071132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13084853	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1498730	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17312996	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs17313003	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs34524468	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4339087	1.00[CHB][hapmap]
rs6439474	1.00[CHB][hapmap]
rs6768709	1.00[CHB][hapmap]
rs6772791	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs6784751	0.83[AMR][1000 genomes]
rs6809909	1.00[CHB][hapmap]
rs7636249	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[TSI][hapmap]
rs7637889	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7638751	1.00[CHB][hapmap]
rs7647682	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7647778	1.00[CHB][hapmap]
rs9826364	1.00[CHB][hapmap];1.00[CHD][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs13078237	EPHB1	cis	cerebellum	SCAN
rs13078237	FAIM	cis	parietal	SCAN
rs13078237	TMEM22	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134054000-134064200	Weak transcription	Aorta	Aorta
2	chr3:134054200-134069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134054400-134069400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:134055800-134071000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:134056200-134066600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:134056400-134064800	Weak transcription	Ovary	ovary
7	chr3:134057200-134067400	Weak transcription	Fetal Heart	heart
8	chr3:134057600-134063400	Weak transcription	Pancreas	Pancrea
9	chr3:134058400-134065000	Weak transcription	Gastric	stomach
10	chr3:134058400-134065200	Weak transcription	Right Ventricle	heart
11	chr3:134058600-134069200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:134058800-134062600	Strong transcription	Liver	Liver
13	chr3:134059200-134064200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr3:134059200-134065200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:134059800-134065200	Weak transcription	A549	lung
16	chr3:134060600-134063400	Weak transcription	Spleen	Spleen
17	chr3:134060600-134065000	Weak transcription	HSMM	muscle
18	chr3:134060600-134065200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:134060600-134065200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:134060600-134065200	Weak transcription	Osteobl	bone
21	chr3:134060600-134067200	Weak transcription	Lung	lung
22	chr3:134060600-134067800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:134060600-134070000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:134060800-134062600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:134060800-134065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:134060800-134067200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:134060800-134072200	Weak transcription	Fetal Kidney	kidney
28	chr3:134061200-134062800	Weak transcription	Adipose Nuclei	Adipose
29	chr3:134061200-134064200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:134061200-134068400	Weak transcription	Fetal Stomach	stomach
31	chr3:134061200-134069000	Weak transcription	Fetal Brain Female	brain
32	chr3:134061400-134064000	Weak transcription	Placenta	Placenta
33	chr3:134061400-134073000	Weak transcription	Fetal Brain Male	brain

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