Variant report

Variant	rs12545483
Chromosome Location	chr8:67414338-67414339
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	GATA3	chr8:67414204-67414882	SK-N-SH	brain:	n/a	chr8:67414511-67414520
2	PBX3	chr8:67414322-67414817	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr8:67414198-67414955	SK-N-SH	brain:	n/a	chr8:67414511-67414520
4	NFIC	chr8:67414218-67414731	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67414298..67415952-chr8:67524915..67527300,2	MCF-7	breast:
2	chr8:67344416..67346838-chr8:67414122..67415847,2	K562	blood:

Variant related genes	Relation type
RNU6-1324P	TF binding region
ENSG00000185697	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10092120	0.91[ASN][1000 genomes]
rs10095700	0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs12265	0.82[CHB][hapmap]
rs12541034	1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs12545198	0.91[CHB][hapmap];0.86[ASN][1000 genomes]
rs12547055	0.81[CHB][hapmap]
rs12547731	0.88[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs16932908	0.88[CHB][hapmap]
rs16932940	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16932942	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2004791	0.91[ASN][1000 genomes]
rs28557066	0.83[ASN][1000 genomes]
rs34077648	0.91[EUR][1000 genomes]
rs3824263	0.83[CHB][hapmap]
rs58055402	0.91[EUR][1000 genomes]
rs59339037	0.91[EUR][1000 genomes]
rs61747714	0.91[EUR][1000 genomes]
rs62511161	0.91[EUR][1000 genomes]
rs62511166	0.91[EUR][1000 genomes]
rs62511169	0.91[EUR][1000 genomes]
rs62511171	0.91[EUR][1000 genomes]
rs62511172	0.91[EUR][1000 genomes]
rs62511173	0.91[EUR][1000 genomes]
rs62511174	0.91[EUR][1000 genomes]
rs62511177	0.91[EUR][1000 genomes]
rs62511179	0.91[EUR][1000 genomes]
rs62511184	0.91[EUR][1000 genomes]
rs62511215	0.91[EUR][1000 genomes]
rs62511946	0.91[EUR][1000 genomes]
rs62511948	0.91[EUR][1000 genomes]
rs62511950	0.91[EUR][1000 genomes]
rs62511951	0.91[EUR][1000 genomes]
rs6472272	0.91[EUR][1000 genomes]
rs6651308	0.82[CHB][hapmap]
rs6989837	0.91[EUR][1000 genomes]
rs6995972	0.94[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs7002496	0.91[EUR][1000 genomes]
rs7010555	0.91[EUR][1000 genomes]
rs7014297	0.91[EUR][1000 genomes]
rs7015255	0.91[EUR][1000 genomes]
rs736458	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs746787	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs746789	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs7813259	0.91[EUR][1000 genomes]
rs9643398	0.82[CHB][hapmap]
rs9643582	0.82[CHB][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67406800-67419400	Weak transcription	Liver	Liver
2	chr8:67407000-67417400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:67407200-67419400	Weak transcription	Aorta	Aorta
4	chr8:67407400-67416200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:67407600-67415400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:67408200-67415400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:67411200-67415400	Weak transcription	Brain Angular Gyrus	brain
8	chr8:67411200-67418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:67411200-67419200	Weak transcription	HSMM	muscle
10	chr8:67411200-67419200	Weak transcription	NH-A	brain
11	chr8:67411200-67419400	Weak transcription	A549	lung
12	chr8:67411400-67416000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:67411400-67416000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:67411600-67415200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:67411800-67414400	Weak transcription	Brain Substantia Nigra	brain
16	chr8:67411800-67415600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:67412800-67416000	Enhancers	Brain Hippocampus Middle	brain
18	chr8:67413000-67419200	Weak transcription	Brain Germinal Matrix	brain
19	chr8:67413600-67415800	Genic enhancers	Brain Inferior Temporal Lobe	brain
20	chr8:67413600-67416600	Enhancers	GM12878-XiMat	blood
21	chr8:67413800-67418000	Enhancers	Brain Cingulate Gyrus	brain
22	chr8:67414000-67414800	Enhancers	Hela-S3	cervix
23	chr8:67414000-67416000	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links