Variant report

Variant	rs1356977
Chromosome Location	chr2:190208131-190208132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190206539..190208625-chr2:190208807..190211103,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10187060	0.85[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[YRI][hapmap]
rs10497700	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10497703	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs10755004	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10931414	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10931416	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931418	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10931419	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1112578	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1157910	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11677066	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11688021	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11691604	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs11691691	0.93[AMR][1000 genomes]
rs11695159	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12105389	0.89[CEU][hapmap];0.80[CHB][hapmap];0.86[JPT][hapmap]
rs12612412	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12613876	0.82[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs12616234	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12623723	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12987962	0.81[AMR][1000 genomes]
rs12988143	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs12990035	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12990235	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12997620	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12999122	0.81[EUR][1000 genomes]
rs13004187	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004722	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13010531	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs13011374	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13011485	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13015203	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13015283	0.88[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs13016231	0.81[EUR][1000 genomes]
rs13021508	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022633	0.86[EUR][1000 genomes]
rs13031211	0.92[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs13031549	0.82[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs13032853	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13033841	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1356164	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs1356165	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1356167	0.89[CEU][hapmap]
rs1356168	0.92[CEU][hapmap]
rs1399991	0.89[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap]
rs1402368	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1520855	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1520857	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1520859	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520863	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1520864	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1568334	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1581351	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1851105	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1949484	0.81[EUR][1000 genomes]
rs1949604	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1949605	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1965422	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs2138374	0.88[CEU][hapmap]
rs2222256	0.81[EUR][1000 genomes]
rs2304703	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2351636	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3914778	0.81[EUR][1000 genomes]
rs4287797	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4353589	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4666774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667264	0.89[CEU][hapmap]
rs4667265	0.89[CEU][hapmap]
rs4667272	0.81[EUR][1000 genomes]
rs4667274	0.85[EUR][1000 genomes]
rs4667276	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667277	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667281	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4667284	0.81[JPT][hapmap]
rs4998559	0.89[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6434339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6708419	0.89[CEU][hapmap]
rs6728055	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6745108	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7419276	0.85[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap]
rs7419888	0.89[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs7564611	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7576165	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7587147	0.81[EUR][1000 genomes]
rs7587956	0.81[EUR][1000 genomes]
rs7588453	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7593821	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7596592	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7607133	0.85[EUR][1000 genomes]
rs963738	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9679659	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv875614	chr2:190110841-190254758	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190203400-190208400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:190204600-190211400	Weak transcription	Osteobl	bone
3	chr2:190205000-190211800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:190205600-190208400	Weak transcription	Fetal Intestine Small	intestine
5	chr2:190207400-190209000	Enhancers	Colon Smooth Muscle	Colon
6	chr2:190207800-190211800	Weak transcription	NH-A	brain

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