Variant report

Variant	rs12472397
Chromosome Location	chr2:171604180-171604181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:171603862-171604928	K562	blood:	n/a	chr2:171604646-171604654

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:171602544..171604977-chr2:171607272..171609245,2	K562	blood:
2	chr2:171603347..171605855-chr2:171623279..171625744,2	K562	blood:
3	chr2:171571145..171574823-chr2:171602056..171606730,4	K562	blood:
4	chr2:171525220..171526847-chr2:171603217..171605132,2	K562	blood:
5	chr2:171081877..171083554-chr2:171602935..171605209,2	K562	blood:
6	chr2:171594157..171598805-chr2:171599016..171605066,9	K562	blood:
7	chr2:171603392..171605168-chr2:171617778..171619766,2	K562	blood:
8	chr2:171571145..171574004-chr2:171604005..171606730,2	K562	blood:
9	chr2:171595899..171597682-chr2:171601375..171604248,2	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2S2P4	TF binding region
ENSG00000204335	Chromatin interaction
ENSG00000128692	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10168078	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1065651	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10930440	0.93[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1110002	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1134626	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11675773	0.91[ASN][1000 genomes]
rs12463871	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12464863	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs12469431	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12692960	0.91[ASN][1000 genomes]
rs1362488	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1420378	0.93[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1420379	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1420380	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1420381	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17694562	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17694708	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17751035	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17751072	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17751234	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1861464	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1894920	0.86[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1978340	0.85[JPT][hapmap]
rs1990653	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2111000	0.91[ASN][1000 genomes]
rs2216134	0.91[ASN][1000 genomes]
rs2287110	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2287111	0.93[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs2356234	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883888	0.82[AMR][1000 genomes]
rs34137349	0.81[AMR][1000 genomes]
rs34436957	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35127716	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35872782	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4667657	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668308	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668315	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4668316	0.91[ASN][1000 genomes]
rs55693618	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55799517	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55804482	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923006	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56024406	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56330225	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364811	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56989102	0.81[AMR][1000 genomes]
rs58919807	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61246559	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62168365	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168366	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62168367	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62168369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168370	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168371	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62168373	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62168376	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62168396	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62168397	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62168399	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168400	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168401	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62168405	0.91[ASN][1000 genomes]
rs62168409	0.91[ASN][1000 genomes]
rs62168446	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62168447	0.87[ASN][1000 genomes]
rs62168448	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62169546	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62169547	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62169548	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6712113	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6742220	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755814	0.92[JPT][hapmap]
rs6759584	0.93[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs72885487	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72887356	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72887361	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72887372	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7568115	0.93[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs7600585	0.93[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]

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	nsv963746	chr2:171602620-171609432	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:171574000-171620800	Weak transcription	Pancreas	Pancrea
2	chr2:171601600-171604200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:171601600-171606400	Weak transcription	Gastric	stomach
4	chr2:171601800-171604200	Weak transcription	Stomach Mucosa	stomach
5	chr2:171603800-171604200	Enhancers	HMEC	breast
6	chr2:171603800-171604400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:171603800-171604400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:171603800-171604400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:171604000-171604200	Enhancers	K562	blood
10	chr2:171604000-171604400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:171604000-171604400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:171604000-171604400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:171604000-171604400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:171604000-171604400	Enhancers	NHLF	lung
15	chr2:171604000-171604600	Enhancers	NHEK	skin
16	chr2:171604000-171604800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:171604000-171605200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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