Variant report

Variant	rs1341924
Chromosome Location	chr1:180349818-180349819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180349414..180351217-chr1:180352650..180354645,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10494525	1.00[CEU][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs10494526	0.88[GIH][hapmap]
rs10737342	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];0.93[ASN][1000 genomes]
rs10753211	0.81[CHB][hapmap]
rs10798745	0.85[CHB][hapmap]
rs10798746	0.81[CHB][hapmap]
rs10798752	0.93[ASN][1000 genomes]
rs10798753	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10798754	0.93[ASN][1000 genomes]
rs10798759	0.81[CHB][hapmap]
rs10798761	0.85[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10798762	0.81[CHB][hapmap]
rs10798767	0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs10913969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913970	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913975	1.00[GIH][hapmap]
rs10913980	0.81[CHB][hapmap]
rs10913981	0.81[CHB][hapmap]
rs10913984	0.81[CHB][hapmap]
rs10913985	0.81[CHB][hapmap]
rs10913994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10914002	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.84[YRI][hapmap];0.91[ASN][1000 genomes]
rs10914007	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11580793	0.81[CHB][hapmap]
rs12024156	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12034217	0.81[CHB][hapmap]
rs12034669	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12039331	0.89[JPT][hapmap]
rs12039933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12045123	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12045636	0.88[ASN][1000 genomes]
rs12085808	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12089448	0.88[GIH][hapmap]
rs12091722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142124	0.91[ASN][1000 genomes]
rs12402815	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403665	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12405902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407122	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12691484	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12730889	0.81[CHB][hapmap]
rs1416823	0.90[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs1418102	0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1538620	0.81[CHB][hapmap]
rs1575710	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16856087	0.82[EUR][1000 genomes]
rs1890731	0.89[ASN][1000 genomes]
rs2296378	0.81[CHB][hapmap]
rs28506072	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2877399	0.93[ASN][1000 genomes]
rs2877415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806300	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3806301	0.85[CHB][hapmap]
rs4076403	0.81[CHB][hapmap]
rs4421553	0.81[CHB][hapmap]
rs4424469	0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4436345	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4483365	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4543756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562579	0.91[ASN][1000 genomes]
rs4578179	0.81[CHB][hapmap]
rs4593778	0.91[ASN][1000 genomes]
rs4642852	0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4651064	0.81[CHB][hapmap]
rs4652495	0.91[ASN][1000 genomes]
rs4652496	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4652498	0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs4652499	0.90[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4652505	0.81[CHB][hapmap]
rs55874160	0.93[ASN][1000 genomes]
rs60286873	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425625	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6425634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425644	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs6657492	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6659513	0.93[ASN][1000 genomes]
rs6661208	0.85[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs6665719	0.81[CHB][hapmap]
rs6670544	0.81[CHB][hapmap]
rs6678216	0.93[ASN][1000 genomes]
rs6680368	0.90[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.88[LWK][hapmap];1.00[MKK][hapmap];0.91[ASN][1000 genomes]
rs6684596	0.88[GIH][hapmap]
rs6687081	0.81[EUR][1000 genomes]
rs6699076	0.89[JPT][hapmap]
rs6704334	0.89[CHB][hapmap]
rs6704437	0.90[CHB][hapmap]
rs72720915	0.90[ASN][1000 genomes]
rs72720917	0.90[ASN][1000 genomes]
rs7512134	0.81[GIH][hapmap]
rs7519288	1.00[CEU][hapmap]
rs7526189	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528650	0.81[CHB][hapmap]
rs7538219	0.93[ASN][1000 genomes]
rs7538303	0.93[ASN][1000 genomes]
rs7539910	0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[YRI][hapmap];0.89[ASN][1000 genomes]
rs7544585	0.93[ASN][1000 genomes]
rs822706	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs878641	0.88[GIH][hapmap]
rs9701037	0.91[ASN][1000 genomes]
rs9726041	0.89[CHB][hapmap]
rs9729819	0.89[ASN][1000 genomes]
rs9730180	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1009742	chr1:180342203-180385459	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180333000-180356200	Weak transcription	Ovary	ovary
2	chr1:180341200-180401400	Weak transcription	Osteobl	bone
3	chr1:180343600-180356400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:180348200-180350000	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr1:180348200-180382600	Weak transcription	Pancreas	Pancrea
6	chr1:180348800-180350200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:180348800-180350800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr1:180349000-180350200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:180349200-180350200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:180349400-180350000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:180349400-180351400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:180349400-180356600	Weak transcription	Aorta	Aorta
13	chr1:180349400-180364200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:180349400-180407000	Weak transcription	Esophagus	oesophagus
15	chr1:180349800-180350000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:180349800-180351200	Weak transcription	HUVEC	blood vessel

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