Variant report

Variant	rs2562848
Chromosome Location	chr2:179528989-179528990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1001238	0.81[MKK][hapmap]
rs10497518	0.88[TSI][hapmap]
rs10930832	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs12468141	0.86[CHB][hapmap]
rs12693162	0.83[MKK][hapmap]
rs1366677	0.88[ASN][1000 genomes]
rs1560221	0.81[MKK][hapmap]
rs1569407	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16866420	0.82[MKK][hapmap]
rs2042995	0.81[MKK][hapmap]
rs2042996	0.83[MKK][hapmap]
rs2163008	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163009	0.81[MKK][hapmap]
rs2243452	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2244492	0.89[CHB][hapmap];0.87[CHD][hapmap]
rs2246932	0.88[ASN][1000 genomes]
rs2252350	0.84[ASN][1000 genomes]
rs2252353	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2288563	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2288566	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2288570	0.88[CHB][hapmap]
rs2303829	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2303831	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs2303832	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs2472751	0.89[MKK][hapmap]
rs2562843	0.88[ASN][1000 genomes]
rs2562844	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2562846	0.88[ASN][1000 genomes]
rs2562847	0.86[ASN][1000 genomes]
rs2562849	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2562850	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2562851	0.81[ASN][1000 genomes]
rs2627038	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2627039	0.84[ASN][1000 genomes]
rs2742324	0.88[ASN][1000 genomes]
rs2742345	0.85[MEX][hapmap]
rs2742349	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2742350	0.84[ASN][1000 genomes]
rs2742352	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2742353	0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2742354	0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2742355	0.88[ASN][1000 genomes]
rs2742356	0.88[ASN][1000 genomes]
rs2742358	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3731745	0.88[CHB][hapmap]
rs3731750	0.80[MKK][hapmap]
rs3813245	0.88[CHB][hapmap]
rs3813246	0.88[CHB][hapmap]
rs3813247	0.88[CHB][hapmap]
rs55639922	0.83[ASN][1000 genomes]
rs55658446	0.81[ASN][1000 genomes]
rs55847232	0.84[ASN][1000 genomes]
rs56101931	0.88[ASN][1000 genomes]
rs56285382	0.81[ASN][1000 genomes]
rs56352103	0.83[ASN][1000 genomes]
rs72650085	0.88[ASN][1000 genomes]
rs72677228	0.81[ASN][1000 genomes]
rs72677248	0.81[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	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2757841	chr2:179409072-179608242	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv2759103	chr2:179409072-179608242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1813473	chr2:179515899-179540690	Genic enhancers Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
6	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:179527000-179529200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:179528200-179530800	Strong transcription	Fetal Muscle Leg	muscle
11	chr2:179528200-179531000	Strong transcription	HSMMtube	muscle
12	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:179528400-179529000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:179528400-179529600	Strong transcription	Primary B cells from cord blood	blood
15	chr2:179528400-179529600	Strong transcription	Fetal Heart	heart
16	chr2:179528400-179531800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:179528400-179532000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:179528400-179532200	Strong transcription	Left Ventricle	heart
19	chr2:179528400-179563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:179528600-179529800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr2:179528600-179530200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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