Variant report

Variant	rs2483338
Chromosome Location	chr1:113013053-113013054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113006940..113010654-chr1:113011848..113014462,4	K562	blood:
2	chr1:113009474..113011152-chr1:113012655..113014579,2	MCF-7	breast:
3	chr1:113007260..113009298-chr1:113011908..113014281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1018712	0.92[CEU][hapmap];0.83[ASN][1000 genomes]
rs1018713	0.90[ASN][1000 genomes]
rs11102471	0.84[CEU][hapmap]
rs11102472	0.82[ASN][1000 genomes]
rs11102475	0.86[ASN][1000 genomes]
rs11102477	0.89[ASN][1000 genomes]
rs11102479	0.82[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1175629	0.82[ASN][1000 genomes]
rs1177812	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1177813	0.82[ASN][1000 genomes]
rs12119865	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs1333231	0.86[ASN][1000 genomes]
rs1412931	0.92[CEU][hapmap];0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs1475710	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1572048	0.84[ASN][1000 genomes]
rs1759684	0.82[ASN][1000 genomes]
rs1759688	0.84[ASN][1000 genomes]
rs1759689	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs1759692	0.91[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.88[ASN][1000 genomes]
rs1777608	0.92[CEU][hapmap];0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs2026499	0.83[ASN][1000 genomes]
rs2026500	0.81[ASN][1000 genomes]
rs2065543	0.86[ASN][1000 genomes]
rs2065544	0.87[ASN][1000 genomes]
rs2256883	0.88[ASN][1000 genomes]
rs2483328	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2483332	0.83[ASN][1000 genomes]
rs2483333	0.83[ASN][1000 genomes]
rs2483339	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2483340	0.86[ASN][1000 genomes]
rs2483341	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2483342	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2483343	0.86[ASN][1000 genomes]
rs2483344	0.86[ASN][1000 genomes]
rs2483345	0.86[ASN][1000 genomes]
rs2483346	0.84[ASN][1000 genomes]
rs2483349	0.84[ASN][1000 genomes]
rs2483350	0.83[ASN][1000 genomes]
rs2483351	0.83[ASN][1000 genomes]
rs2483352	0.84[ASN][1000 genomes]
rs2483356	0.82[ASN][1000 genomes]
rs2483357	0.82[ASN][1000 genomes]
rs2483358	0.82[ASN][1000 genomes]
rs2483359	0.82[ASN][1000 genomes]
rs2483360	0.82[ASN][1000 genomes]
rs2483361	0.82[ASN][1000 genomes]
rs2483362	0.82[ASN][1000 genomes]
rs2488757	0.82[ASN][1000 genomes]
rs2488758	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2488759	0.82[ASN][1000 genomes]
rs2488761	0.82[ASN][1000 genomes]
rs2488762	0.83[CEU][hapmap]
rs2488786	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2488787	0.92[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2488788	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2488789	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2488790	0.86[ASN][1000 genomes]
rs2488791	0.84[ASN][1000 genomes]
rs2488792	0.83[ASN][1000 genomes]
rs2492506	0.87[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2492507	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs2492509	0.82[ASN][1000 genomes]
rs2492510	0.83[ASN][1000 genomes]
rs2492511	0.81[ASN][1000 genomes]
rs2492512	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2492513	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs2492514	0.82[ASN][1000 genomes]
rs2492515	0.80[ASN][1000 genomes]
rs2492516	0.82[ASN][1000 genomes]
rs2492517	0.82[ASN][1000 genomes]
rs2492518	0.82[ASN][1000 genomes]
rs2492519	0.82[ASN][1000 genomes]
rs2492521	0.82[ASN][1000 genomes]
rs2492522	0.82[ASN][1000 genomes]
rs2492523	0.82[ASN][1000 genomes]
rs2492524	0.82[ASN][1000 genomes]
rs2492525	0.82[ASN][1000 genomes]
rs2492529	0.84[ASN][1000 genomes]
rs2492530	0.86[ASN][1000 genomes]
rs2492531	0.86[ASN][1000 genomes]
rs2492532	0.86[ASN][1000 genomes]
rs2492533	0.87[ASN][1000 genomes]
rs2492534	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2780271	0.88[ASN][1000 genomes]
rs2990989	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2999476	0.82[ASN][1000 genomes]
rs3122287	0.80[ASN][1000 genomes]
rs3762332	0.86[CHB][hapmap];0.90[ASN][1000 genomes]
rs3762333	0.88[ASN][1000 genomes]
rs3795821	0.86[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs3818729	0.88[ASN][1000 genomes]
rs4240533	0.86[ASN][1000 genomes]
rs4596887	0.86[ASN][1000 genomes]
rs4839245	0.84[ASN][1000 genomes]
rs4839246	0.86[ASN][1000 genomes]
rs55835005	0.84[ASN][1000 genomes]
rs56303798	0.86[ASN][1000 genomes]
rs6680402	0.82[ASN][1000 genomes]
rs6696624	0.82[ASN][1000 genomes]
rs6703430	0.82[ASN][1000 genomes]
rs7536263	0.83[ASN][1000 genomes]
rs7541222	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs962401	0.83[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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2483338	CTTNBP2NL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113008400-113013600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:113008800-113019200	Weak transcription	Lung	lung
3	chr1:113009200-113013600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:113009200-113013600	Weak transcription	Aorta	Aorta
5	chr1:113009200-113014800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:113009200-113019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:113009200-113019200	Weak transcription	Left Ventricle	heart
8	chr1:113009200-113019400	Weak transcription	Esophagus	oesophagus
9	chr1:113009800-113014600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:113009800-113019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:113010000-113013200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:113010000-113014800	Weak transcription	GM12878-XiMat	blood
13	chr1:113010000-113019000	Weak transcription	Spleen	Spleen
14	chr1:113010000-113019200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:113010000-113019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:113010000-113019400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:113010200-113013400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr1:113010400-113013600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:113012600-113013800	Enhancers	NHEK	skin
20	chr1:113012800-113013800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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