Variant report

Variant	rs12126330
Chromosome Location	chr1:77818743-77818744
allele	A/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	POLR2A	chr1:77818667-77818781	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77817387..77819700-chr1:77829412..77831526,2	K562	blood:

Variant related genes	Relation type
ENSG00000233099	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11162318	0.97[EUR][1000 genomes]
rs11584919	0.83[EUR][1000 genomes]
rs11590456	0.84[EUR][1000 genomes]
rs1167202	0.81[EUR][1000 genomes]
rs1167212	0.81[EUR][1000 genomes]
rs12124822	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12125503	0.98[EUR][1000 genomes]
rs12128049	0.97[EUR][1000 genomes]
rs12132273	0.98[EUR][1000 genomes]
rs12135843	0.83[EUR][1000 genomes]
rs12136415	0.82[EUR][1000 genomes]
rs12140227	0.84[EUR][1000 genomes]
rs12141929	0.84[EUR][1000 genomes]
rs1453981	0.82[EUR][1000 genomes]
rs4949791	0.82[EUR][1000 genomes]
rs61096452	0.84[EUR][1000 genomes]
rs61783074	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61784657	0.88[EUR][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	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77789000-77831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:77795000-77836400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:77801000-77825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:77809000-77819200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:77813600-77819800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:77813800-77819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:77813800-77820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:77813800-77820600	Weak transcription	NHLF	lung
10	chr1:77813800-77834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:77814000-77820800	Weak transcription	HSMMtube	muscle
12	chr1:77814400-77819200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:77814400-77835600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:77814600-77820400	Weak transcription	Osteobl	bone
15	chr1:77815000-77820200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:77816000-77824000	Weak transcription	Brain Anterior Caudate	brain
17	chr1:77816200-77819200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:77816200-77819600	Weak transcription	Brain Angular Gyrus	brain
19	chr1:77816200-77825800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:77816400-77819400	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:77816400-77819400	Weak transcription	Brain Substantia Nigra	brain
22	chr1:77816400-77819600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:77816600-77819400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:77816800-77820400	Weak transcription	HSMM	muscle
25	chr1:77817200-77819800	Strong transcription	NHDF-Ad	bronchial
26	chr1:77817400-77834200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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