Variant report

Variant	rs12144991
Chromosome Location	chr1:179871225-179871226
allele	A/G
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	POLR2A	chr1:179871210-179871329	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:179845449..179848601-chr1:179867688..179872232,4	K562	blood:
2	chr1:179850058..179853356-chr1:179869131..179876291,8	K562	blood:
3	chr1:179849896..179853295-chr1:179868800..179873439,8	K562	blood:
4	chr1:179866194..179868046-chr1:179871129..179873011,2	K562	blood:

Variant related genes	Relation type
TOR1AIP1	TF binding region
ENSG00000143337	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000169905	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1048418	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10494523	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10913894	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10913895	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10913905	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913909	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12119431	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12121694	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12126625	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136091	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136465	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16854910	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3845388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301600	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61740391	0.94[EUR][1000 genomes]
rs6425596	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6659939	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6673144	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72708661	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72708662	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527215	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7531195	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7545581	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7549317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9726605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179853000-179884800	Weak transcription	Esophagus	oesophagus
2	chr1:179853000-179890400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:179853200-179886600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:179853200-179890800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:179853400-179872600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:179853400-179877000	Weak transcription	Right Ventricle	heart
7	chr1:179853400-179878200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:179853400-179882800	Weak transcription	Fetal Brain Male	brain
9	chr1:179854000-179886800	Weak transcription	Fetal Heart	heart
10	chr1:179854200-179871800	Weak transcription	Brain Germinal Matrix	brain
11	chr1:179855600-179871600	Weak transcription	A549	lung
12	chr1:179856200-179876800	Weak transcription	NHLF	lung
13	chr1:179857600-179871600	Weak transcription	HSMM	muscle
14	chr1:179857600-179886800	Weak transcription	Psoas Muscle	Psoas
15	chr1:179860000-179873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:179860200-179890200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:179860400-179871600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:179860400-179873000	Weak transcription	HUVEC	blood vessel
19	chr1:179860400-179873200	Weak transcription	K562	blood
20	chr1:179860400-179878800	Weak transcription	Colonic Mucosa	Colon
21	chr1:179860600-179871600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:179861000-179871400	Weak transcription	NHEK	skin
23	chr1:179861000-179871600	Weak transcription	Brain Substantia Nigra	brain
24	chr1:179861200-179871400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:179861200-179878000	Weak transcription	Gastric	stomach
26	chr1:179861200-179886600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:179861400-179871600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:179861400-179871600	Weak transcription	Aorta	Aorta
29	chr1:179861400-179871600	Weak transcription	HSMMtube	muscle
30	chr1:179861400-179882200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:179861600-179871400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:179861600-179871600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:179861600-179871600	Weak transcription	Thymus	Thymus
34	chr1:179861600-179871600	Weak transcription	HepG2	liver
35	chr1:179861600-179872600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:179861600-179872600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:179861600-179886600	Weak transcription	Pancreas	Pancrea
38	chr1:179863000-179871600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:179863000-179871600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr1:179863000-179871600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:179863000-179876800	Weak transcription	Fetal Kidney	kidney
42	chr1:179863200-179871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:179863200-179871600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:179863200-179877400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr1:179864000-179871600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:179864000-179871800	Weak transcription	Fetal Brain Female	brain
47	chr1:179864200-179871400	Weak transcription	Left Ventricle	heart
48	chr1:179864600-179871400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:179866000-179871400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:179866000-179871800	Weak transcription	NHDF-Ad	bronchial

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