Variant report

Variant	rs197650
Chromosome Location	chr1:57720281-57720282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10889033	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11207002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1149628	0.95[CHB][hapmap]
rs11587719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12088611	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12135189	0.95[CHB][hapmap]
rs12143340	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs127600	0.81[CEU][hapmap]
rs1811699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1811700	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197625	0.94[EUR][1000 genomes]
rs197626	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs197627	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs197636	0.84[CEU][hapmap]
rs197637	0.84[CEU][hapmap]
rs197638	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs197641	0.81[CEU][hapmap]
rs197642	0.84[CEU][hapmap]
rs197643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197644	0.92[CEU][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs197645	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs197647	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][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]
rs197649	0.96[EUR][1000 genomes]
rs1991093	0.83[ASN][1000 genomes]
rs2251472	0.92[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2432690	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2656095	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2764664	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2764666	0.87[ASN][1000 genomes]
rs471548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485723	0.86[ASN][1000 genomes]
rs488405	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs492905	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs492986	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs493846	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs501921	0.84[ASN][1000 genomes]
rs508389	0.83[ASN][1000 genomes]
rs511707	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs515802	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs524171	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs529527	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs539229	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs542873	0.92[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs542949	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs545582	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs561531	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs572092	0.88[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs581886	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs583845	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs593154	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595513	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs610360	0.84[ASN][1000 genomes]
rs611276	0.92[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs611606	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs614488	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs622423	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs627489	0.95[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs627936	0.91[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs632935	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs634391	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs637379	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs642526	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs643382	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs648607	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs655277	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs659069	0.96[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66894620	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs669931	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs674966	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs680197	0.84[ASN][1000 genomes]
rs686702	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs693942	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7529737	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs833626	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs924850	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][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	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2754702	chr1:57716116-57743244	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57712400-57728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57712600-57727800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57712800-57731200	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57717200-57726200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57718200-57720400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:57718800-57720400	Enhancers	Fetal Brain Male	brain
7	chr1:57718800-57727800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:57719800-57720400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57720200-57720400	Enhancers	Fetal Brain Female	brain

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