Variant report

Variant	rs10913892
Chromosome Location	chr1:179786385-179786386
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	chr1:179783903..179786438-chr1:179821262..179823436,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1048418	1.00[CHB][hapmap]
rs10494523	1.00[CHB][hapmap]
rs10913893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913905	1.00[CHB][hapmap]
rs10913909	1.00[CHB][hapmap]
rs11590974	1.00[CHB][hapmap]
rs12118565	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119431	1.00[CHB][hapmap]
rs12136091	1.00[CHB][hapmap]
rs12136465	1.00[CHB][hapmap]
rs12142457	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142611	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143942	1.00[CHB][hapmap]
rs12723969	1.00[CHB][hapmap]
rs12756362	1.00[CHB][hapmap]
rs16854910	1.00[CHB][hapmap]
rs17370139	1.00[CHB][hapmap]
rs3845388	1.00[CHB][hapmap]
rs4301600	1.00[CHB][hapmap]
rs7518566	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531195	1.00[CHB][hapmap]
rs7540487	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009961	chr1:179714247-179790110	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1011407	chr1:179733193-179799430	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv520418	chr1:179761601-179794602	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv519307	chr1:179766086-179795505	Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1005808	chr1:179783922-179864710	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv1005051	chr1:179785643-179861950	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10913892	TOR1AIP1	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179783600-179786600	Enhancers	Lung	lung
2	chr1:179783600-179787000	Enhancers	Spleen	Spleen
3	chr1:179784600-179786600	Weak transcription	HSMMtube	muscle
4	chr1:179784800-179786400	Weak transcription	HSMM	muscle
5	chr1:179784800-179787000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:179784800-179787000	Enhancers	Right Ventricle	heart
7	chr1:179784800-179787200	Enhancers	Right Atrium	heart
8	chr1:179784800-179788000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:179784800-179788200	Enhancers	NHLF	lung
10	chr1:179784800-179788400	Enhancers	Left Ventricle	heart
11	chr1:179785000-179786400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr1:179785000-179786400	Weak transcription	NHDF-Ad	bronchial
13	chr1:179785000-179786600	Weak transcription	Ovary	ovary
14	chr1:179785000-179788000	Enhancers	Adipose Nuclei	Adipose
15	chr1:179785000-179788000	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:179785000-179788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:179785000-179788600	Enhancers	Fetal Muscle Leg	muscle
18	chr1:179785000-179788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:179785000-179788800	Weak transcription	Gastric	stomach
20	chr1:179785200-179787800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:179785200-179788200	Enhancers	Fetal Lung	lung
22	chr1:179785400-179786400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:179785400-179787000	Weak transcription	Colonic Mucosa	Colon
24	chr1:179785400-179787600	Weak transcription	Fetal Kidney	kidney
25	chr1:179785400-179788200	Weak transcription	NH-A	brain
26	chr1:179785600-179787600	Bivalent Enhancer	Placenta	Placenta
27	chr1:179785600-179787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:179785600-179788000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:179785800-179786600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:179786000-179787200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr1:179786200-179787400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links