Variant report

Variant	rs10764326
Chromosome Location	chr10:18448062-18448063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:18440418..18442288-chr10:18448031..18451396,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10734038	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10740993	0.94[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10740995	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10740996	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10741003	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10764325	0.94[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10764327	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10764329	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10764331	0.94[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10764332	0.94[ASW][hapmap];0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.98[GIH][hapmap];0.87[JPT][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10828269	0.92[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10828277	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10828280	0.88[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1331330	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2183718	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2183719	0.81[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap]
rs2840320	0.88[CEU][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7080195	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7100500	0.88[AMR][1000 genomes];0.80[EUR][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	nsv1054616	chr10:18433954-18451969	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10764326	PTPLA	cis	cerebellum	SCAN
rs10764326	CACNB2	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18431400-18468800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:18435000-18454200	Weak transcription	Brain Anterior Caudate	brain
3	chr10:18435000-18467200	Weak transcription	Brain Hippocampus Middle	brain
4	chr10:18436000-18448200	Weak transcription	Left Ventricle	heart
5	chr10:18441800-18448200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:18443800-18459000	Weak transcription	Fetal Intestine Small	intestine
7	chr10:18444600-18451200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:18444600-18456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr10:18444600-18457000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:18444600-18458400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:18444600-18466800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:18444800-18451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:18446200-18448600	Enhancers	Osteobl	bone
14	chr10:18446400-18448200	Enhancers	Fetal Brain Male	brain
15	chr10:18446400-18448600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:18446400-18448800	Enhancers	HSMM	muscle
17	chr10:18446800-18448200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:18446800-18448400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:18446800-18448400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr10:18447000-18448600	Enhancers	NH-A	brain
21	chr10:18447200-18448200	Weak transcription	Aorta	Aorta
22	chr10:18447200-18449000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:18447200-18449000	Enhancers	Fetal Heart	heart
24	chr10:18447600-18448600	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr10:18447800-18448200	Flanking Active TSS	NHDF-Ad	bronchial
26	chr10:18447800-18448400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr10:18447800-18448400	Enhancers	Adipose Nuclei	Adipose
28	chr10:18447800-18448400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:18447800-18448400	Enhancers	Fetal Muscle Leg	muscle
30	chr10:18447800-18448600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr10:18447800-18448600	Flanking Active TSS	Fetal Lung	lung
32	chr10:18447800-18448600	Enhancers	Ovary	ovary
33	chr10:18447800-18448800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr10:18447800-18448800	Enhancers	Fetal Stomach	stomach
35	chr10:18447800-18448800	Active TSS	Stomach Smooth Muscle	stomach
36	chr10:18447800-18448800	Flanking Active TSS	Hela-S3	cervix
37	chr10:18447800-18448800	Flanking Active TSS	NHLF	lung
38	chr10:18448000-18448200	Weak transcription	Fetal Intestine Large	intestine
39	chr10:18448000-18448400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:18448000-18448400	Active TSS	Fetal Brain Female	brain
41	chr10:18448000-18448400	Enhancers	Pancreas	Pancrea
42	chr10:18448000-18448400	Active TSS	Rectal Smooth Muscle	rectum
43	chr10:18448000-18448400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr10:18448000-18448600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr10:18448000-18448600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr10:18448000-18448800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr10:18448000-18450800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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