Variant report

Variant	rs11012830
Chromosome Location	chr10:18444576-18444577
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10828275	0.97[EUR][1000 genomes]
rs11012828	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012829	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11012833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11012838	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11012839	1.00[CEU][hapmap];0.80[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11012864	0.87[EUR][1000 genomes]
rs11012867	0.83[EUR][1000 genomes]
rs11594496	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12247369	0.80[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1929421	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35653909	0.97[EUR][1000 genomes]
rs55890801	0.96[EUR][1000 genomes]
rs61545603	0.94[ASN][1000 genomes]
rs61842427	0.88[ASN][1000 genomes]
rs61842428	0.84[ASN][1000 genomes]
rs61842438	0.94[ASN][1000 genomes]
rs61844175	0.94[EUR][1000 genomes]
rs7090405	0.90[EUR][1000 genomes]
rs74120238	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11012830	CACNB2	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18430600-18446400	Weak transcription	Brain Angular Gyrus	brain
2	chr10:18431200-18447800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:18431200-18447800	Weak transcription	Fetal Intestine Large	intestine
4	chr10:18431400-18468800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:18432600-18446800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:18432600-18448000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:18434200-18448000	Weak transcription	Pancreas	Pancrea
8	chr10:18435000-18454200	Weak transcription	Brain Anterior Caudate	brain
9	chr10:18435000-18467200	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:18436000-18448200	Weak transcription	Left Ventricle	heart
11	chr10:18440200-18444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr10:18440800-18446800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:18440800-18447000	Weak transcription	Fetal Brain Female	brain
14	chr10:18441200-18445800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:18441200-18446800	Weak transcription	Aorta	Aorta
16	chr10:18441400-18445400	Weak transcription	Colon Smooth Muscle	Colon
17	chr10:18441600-18446400	Weak transcription	Fetal Brain Male	brain
18	chr10:18441600-18447800	Weak transcription	Fetal Stomach	stomach
19	chr10:18441600-18447800	Weak transcription	Ovary	ovary
20	chr10:18441800-18448200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr10:18443800-18444600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:18443800-18445400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr10:18443800-18459000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:18444000-18444600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr10:18444000-18444600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:18444000-18444600	Strong transcription	Fetal Heart	heart
27	chr10:18444000-18444600	Strong transcription	Fetal Lung	lung
28	chr10:18444000-18444800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:18444200-18444600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr10:18444200-18444800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:18444400-18444600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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