Variant report

Variant	rs7518566
Chromosome Location	chr1:179787166-179787167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:179786838-179787532	IMR90	lung:	n/a	n/a
2	RCOR1	chr1:179786505-179788236	IMR90	lung:	n/a	n/a
3	ZNF263	chr1:179786805-179787454	HEK293-T-REx	kidney:	n/a	n/a
4	MAX	chr1:179787088-179787511	NB4	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR1AIP2-2	chr1:179787127-179787326	ENSG00000229407.1

Variant related genes	Relation type
ENSG00000229407	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048418	1.00[CHB][hapmap]
rs10494523	1.00[CHB][hapmap]
rs10913892	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913893	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[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];0.89[AMR][1000 genomes];1.00[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];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142611	0.83[AMR][1000 genomes];0.98[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]
rs7531195	1.00[CHB][hapmap]
rs7540487	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[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

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179784800-179787200	Enhancers	Right Atrium	heart
2	chr1:179784800-179788000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:179784800-179788200	Enhancers	NHLF	lung
4	chr1:179784800-179788400	Enhancers	Left Ventricle	heart
5	chr1:179785000-179788000	Enhancers	Adipose Nuclei	Adipose
6	chr1:179785000-179788000	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:179785000-179788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:179785000-179788600	Enhancers	Fetal Muscle Leg	muscle
9	chr1:179785000-179788800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:179785000-179788800	Weak transcription	Gastric	stomach
11	chr1:179785200-179787800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:179785200-179788200	Enhancers	Fetal Lung	lung
13	chr1:179785400-179787600	Weak transcription	Fetal Kidney	kidney
14	chr1:179785400-179788200	Weak transcription	NH-A	brain
15	chr1:179785600-179787600	Bivalent Enhancer	Placenta	Placenta
16	chr1:179785600-179787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:179785600-179788000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:179786000-179787200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr1:179786200-179787400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:179786400-179787200	Enhancers	Fetal Thymus	thymus
21	chr1:179786400-179787600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:179786400-179788200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:179786400-179788400	Enhancers	HSMM	muscle
24	chr1:179786400-179788400	Enhancers	NHDF-Ad	bronchial
25	chr1:179786600-179787200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:179786600-179787200	Enhancers	Fetal Heart	heart
27	chr1:179786600-179787600	Enhancers	HSMMtube	muscle
28	chr1:179786600-179787800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:179786600-179788000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:179786600-179788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:179786600-179788400	Bivalent Enhancer	Fetal Stomach	stomach
32	chr1:179786600-179788400	Enhancers	Ovary	ovary
33	chr1:179786800-179787200	Enhancers	Osteobl	bone
34	chr1:179786800-179788000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:179787000-179787200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
36	chr1:179787000-179787200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:179787000-179787400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:179787000-179787600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr1:179787000-179787600	Enhancers	K562	blood
40	chr1:179787000-179787800	Enhancers	Colonic Mucosa	Colon
41	chr1:179787000-179788000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr1:179787000-179793000	Weak transcription	Spleen	Spleen

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