Variant report

Variant	rs12740253
Chromosome Location	chr1:76287929-76287930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76257881..76260713-chr1:76287046..76289517,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1146591	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251534	1.00[ASN][1000 genomes]
rs12724819	1.00[ASN][1000 genomes]
rs12726486	1.00[ASN][1000 genomes]
rs12727287	1.00[ASN][1000 genomes]
rs12731410	0.83[ASN][1000 genomes]
rs12732407	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12732472	1.00[ASN][1000 genomes]
rs12743235	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749266	1.00[ASN][1000 genomes]
rs12759535	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12759945	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1612901	0.83[ASN][1000 genomes]
rs17848065	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34079902	1.00[ASN][1000 genomes]
rs34218840	1.00[ASN][1000 genomes]
rs34270172	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34748623	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34812705	1.00[ASN][1000 genomes]
rs34892795	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898565	1.00[ASN][1000 genomes]
rs34977392	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35283569	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35321712	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35416402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35424470	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35505941	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614774	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35857029	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937370	1.00[ASN][1000 genomes]
rs35961154	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35970385	1.00[ASN][1000 genomes]
rs4335328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764969	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55970724	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403434	0.83[ASN][1000 genomes]
rs57218288	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57389460	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745328	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745332	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745352	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745355	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745362	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745368	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745380	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745391	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745425	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745428	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745434	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745438	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58068229	1.00[ASN][1000 genomes]
rs71502707	1.00[ASN][1000 genomes]
rs71656849	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656851	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656854	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656857	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656858	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71656866	1.00[ASN][1000 genomes]
rs71656867	1.00[ASN][1000 genomes]
rs71656870	1.00[ASN][1000 genomes]
rs74089618	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089619	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089674	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1466	chr1:76280957-76299478	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:76263000-76296200	Weak transcription	Ovary	ovary
5	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
7	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
8	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:76279600-76288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:76282200-76295200	Weak transcription	Right Ventricle	heart
12	chr1:76287200-76289000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:76287400-76290000	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links