Variant report

Variant	rs11597992
Chromosome Location	chr10:92730232-92730233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11598058	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17535998	1.00[CHD][hapmap]
rs35874668	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55863711	0.81[ASN][1000 genomes]
rs56226914	0.97[ASN][1000 genomes]
rs61859573	0.87[ASN][1000 genomes]
rs61859574	0.90[ASN][1000 genomes]
rs61859575	0.90[ASN][1000 genomes]
rs61859576	0.90[ASN][1000 genomes]
rs61859580	0.90[ASN][1000 genomes]
rs61859600	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859601	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859602	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859604	0.87[ASN][1000 genomes]
rs61859605	0.84[ASN][1000 genomes]
rs61859607	0.81[ASN][1000 genomes]
rs61859608	0.81[ASN][1000 genomes]
rs61859609	0.81[ASN][1000 genomes]
rs7083785	0.81[ASN][1000 genomes]
rs7914213	0.81[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	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11597992	SNCG	cis	cerebellum	SCAN
rs11597992	IDE	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92715200-92737000	Weak transcription	Thymus	Thymus
2	chr10:92721200-92731600	Weak transcription	Aorta	Aorta
3	chr10:92722600-92730600	Genic enhancers	Dnd41	blood
4	chr10:92725800-92731800	Active TSS	Right Atrium	heart
5	chr10:92727200-92730400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr10:92727400-92730400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr10:92727400-92730600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:92727800-92730400	Enhancers	HSMMtube	muscle
9	chr10:92727800-92730400	Enhancers	Osteobl	bone
10	chr10:92728200-92730400	Enhancers	A549	lung
11	chr10:92728400-92730400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:92728800-92730400	Enhancers	NHDF-Ad	bronchial
13	chr10:92729000-92730400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:92729200-92730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:92729200-92730400	Weak transcription	Fetal Thymus	thymus
16	chr10:92729200-92730600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr10:92729200-92730800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:92729200-92744400	Weak transcription	Psoas Muscle	Psoas
19	chr10:92729600-92730400	Enhancers	HSMM	muscle
20	chr10:92729600-92735000	Weak transcription	Left Ventricle	heart
21	chr10:92730000-92730400	Enhancers	K562	blood
22	chr10:92730200-92730400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:92730200-92730600	Flanking Active TSS	Right Ventricle	heart
24	chr10:92730200-92731400	Weak transcription	HepG2	liver

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