Variant report

Variant	rs12032983
Chromosome Location	chr1:151473904-151473905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151467596..151470891-chr1:151470893..151474724,4	MCF-7	breast:
2	chr1:151464854..151467789-chr1:151473265..151475428,2	K562	blood:
3	1:151411623-151426875..1:151473324-151476039	H1-hESC	embryonic stem cell:	embryo
4	chr1:151459917..151461603-chr1:151473316..151475793,2	K562	blood:
5	chr1:151430405..151433635-chr1:151472589..151475332,4	K562	blood:

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1009289	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10127622	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10788807	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10788808	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10888418	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10888419	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204834	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204835	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204837	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11204838	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11204839	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11583133	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12026585	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12037100	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12118440	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12128578	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12730114	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1547832	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573130	0.84[ASN][1000 genomes]
rs2211435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298167	0.83[ASN][1000 genomes]
rs2298168	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2337359	0.84[ASN][1000 genomes]
rs61261719	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6675984	0.82[ASN][1000 genomes]
rs7548090	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552458	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151467400-151475200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:151468000-151474400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:151468200-151474600	Weak transcription	Hela-S3	cervix
4	chr1:151468400-151474200	Weak transcription	HepG2	liver
5	chr1:151468400-151476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:151468400-151482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:151468600-151475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:151468600-151482400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:151470200-151482400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:151471000-151475400	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:151471000-151476600	Enhancers	Fetal Intestine Small	intestine
12	chr1:151472400-151475200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr1:151473200-151474400	Weak transcription	Fetal Intestine Large	intestine
14	chr1:151473400-151474400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:151473400-151474400	Weak transcription	Small Intestine	intestine
16	chr1:151473800-151474000	Enhancers	Colonic Mucosa	Colon
17	chr1:151473800-151475400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links