Variant report

Variant	rs1514495
Chromosome Location	chr1:97617789-97617790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10875049	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs10875050	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs10875051	0.84[CHD][hapmap];0.81[JPT][hapmap]
rs10875053	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs11165792	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs11165793	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs11165794	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11165797	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165798	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs11165800	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs11165804	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs11165805	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs12026200	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12035468	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12041436	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs12120077	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12124552	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12134860	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs12740796	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs12759852	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs1514497	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];0.94[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17116479	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];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702702	0.80[JPT][hapmap]
rs2039449	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]
rs4390222	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs57870709	0.87[EUR][1000 genomes]
rs59037549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656329	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6670102	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8179310	0.82[CHD][hapmap];0.81[JPT][hapmap]
rs828053	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs828059	0.85[CHD][hapmap];0.81[JPT][hapmap]
rs993714	0.85[CHD][hapmap];0.81[JPT][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	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97563600-97619200	Weak transcription	Dnd41	blood
2	chr1:97564200-97632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:97585600-97621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:97597400-97619600	Weak transcription	Liver	Liver
5	chr1:97604000-97620000	Weak transcription	Pancreas	Pancrea
6	chr1:97604400-97629000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:97606200-97626600	Weak transcription	Ovary	ovary
8	chr1:97609200-97627800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:97611600-97639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:97612200-97626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:97613200-97629000	Weak transcription	Primary T cells from cord blood	blood
12	chr1:97616000-97620000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:97617400-97625400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr1:97617600-97618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links