Variant report

Variant	rs17416172
Chromosome Location	chr2:212974828-212974829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10197270	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs10445808	1.00[CHB][hapmap]
rs10497958	1.00[CHB][hapmap]
rs12373751	1.00[CHB][hapmap]
rs12464843	1.00[CHB][hapmap]
rs12470737	1.00[CHB][hapmap]
rs12473708	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12476163	1.00[CHB][hapmap]
rs12477159	1.00[CHB][hapmap]
rs12478950	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1402716	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1402718	1.00[CHB][hapmap]
rs1464443	1.00[CHB][hapmap]
rs1473636	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1473638	1.00[CHB][hapmap]
rs1521537	0.83[CHD][hapmap]
rs1521550	1.00[CHB][hapmap]
rs1521553	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs1546717	0.83[CHD][hapmap]
rs16847568	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs16847575	1.00[CHB][hapmap]
rs16847580	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs17343912	1.00[CHB][hapmap]
rs17343932	1.00[CHB][hapmap]
rs17344051	0.83[CHD][hapmap]
rs17344065	1.00[CHB][hapmap]
rs17344266	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs17415969	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2139939	1.00[CHB][hapmap]
rs2139940	1.00[CHB][hapmap]
rs2371442	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs2371444	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371475	0.85[CEU][hapmap]
rs4423551	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672634	1.00[CHB][hapmap]
rs4672636	1.00[CHB][hapmap]
rs6435690	0.94[ASW][hapmap];0.85[CEU][hapmap];0.89[TSI][hapmap];0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6435691	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712126	1.00[CHB][hapmap]
rs6738304	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs7424712	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574462	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs7582903	1.00[CHB][hapmap]
rs939645	1.00[CHB][hapmap]
rs9678219	1.00[CHB][hapmap];0.83[CHD][hapmap]

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	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212972200-212975400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:212972600-212976000	Enhancers	HUVEC	blood vessel
3	chr2:212972800-212975800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:212973000-212976200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:212973600-212975000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:212973600-212975200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:212973600-212975600	Enhancers	Brain Substantia Nigra	brain
8	chr2:212973600-212976000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:212973600-212976000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr2:212973600-212976000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:212973800-212976400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:212974000-212975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:212974000-212977800	Enhancers	Fetal Intestine Small	intestine
14	chr2:212974200-212975000	Weak transcription	Brain Anterior Caudate	brain
15	chr2:212974200-212975200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:212974200-212975200	Weak transcription	Aorta	Aorta
17	chr2:212974400-212978600	Weak transcription	Fetal Heart	heart
18	chr2:212974600-212976000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:212974600-212977600	Enhancers	Fetal Intestine Large	intestine
20	chr2:212974800-212975200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:212974800-212975200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr2:212974800-212975200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:212974800-212975800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links