Variant report

Variant	rs2038782
Chromosome Location	chr13:96290980-96290981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1000600	0.81[CHB][hapmap]
rs11070146	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070147	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1408606	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1408607	0.84[JPT][hapmap]
rs1535990	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1547166	0.82[GIH][hapmap]
rs17235320	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs3742150	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4497528	0.81[CHB][hapmap]
rs4773921	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7329790	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7334692	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7338545	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7986280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7989079	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9302082	0.81[CHB][hapmap]
rs9525034	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9590305	0.81[CHB][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	nsv900934	chr13:96255706-96327574	Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3330095	chr13:96281000-96297421	Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2038782	DZIP1	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96247800-96293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:96251400-96294400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:96256400-96295200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:96256800-96294200	Weak transcription	Placenta	Placenta
5	chr13:96260200-96293400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:96265800-96293400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:96267600-96293000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:96268400-96291600	Strong transcription	Osteobl	bone
9	chr13:96270200-96293400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:96272400-96292000	Weak transcription	Colonic Mucosa	Colon
11	chr13:96273600-96293400	Weak transcription	Brain Substantia Nigra	brain
12	chr13:96273600-96293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:96273600-96293600	Weak transcription	Left Ventricle	heart
14	chr13:96273800-96293600	Weak transcription	Gastric	stomach
15	chr13:96273800-96293600	Weak transcription	Pancreas	Pancrea
16	chr13:96276800-96293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr13:96279200-96293800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr13:96279400-96292000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr13:96279400-96293800	Weak transcription	Liver	Liver
20	chr13:96279600-96292000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:96280400-96291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:96280400-96291800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr13:96280600-96292400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:96283800-96293600	Weak transcription	Fetal Heart	heart
25	chr13:96284400-96293400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr13:96284600-96293400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:96284600-96295800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr13:96284800-96293600	Weak transcription	Spleen	Spleen
29	chr13:96285200-96291000	Weak transcription	Fetal Kidney	kidney
30	chr13:96285200-96293600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr13:96285400-96291200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr13:96285400-96291200	Weak transcription	Fetal Brain Male	brain
33	chr13:96285400-96292600	Weak transcription	Brain Anterior Caudate	brain
34	chr13:96285400-96292600	Weak transcription	HepG2	liver
35	chr13:96285400-96293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:96285400-96293600	Weak transcription	Brain Hippocampus Middle	brain
37	chr13:96285600-96293400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:96285600-96293400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:96285600-96293400	Weak transcription	Brain Angular Gyrus	brain
40	chr13:96285600-96293600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:96285800-96292600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr13:96285800-96293400	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:96285800-96293800	Weak transcription	Aorta	Aorta
44	chr13:96286200-96293000	Weak transcription	Brain Germinal Matrix	brain
45	chr13:96286600-96293200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr13:96286600-96293800	Weak transcription	Psoas Muscle	Psoas
47	chr13:96286800-96293400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:96287600-96291600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr13:96287800-96292800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:96288200-96291000	Weak transcription	A549	lung

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