Variant report

Variant	rs197638
Chromosome Location	chr1:57725446-57725447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10889033	0.84[EUR][1000 genomes]
rs11207002	0.92[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs1149628	0.95[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs11587719	0.92[CEU][hapmap];0.96[EUR][1000 genomes]
rs12088611	0.85[EUR][1000 genomes]
rs12143340	0.95[EUR][1000 genomes]
rs1424473	1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1811699	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs1811700	0.81[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.84[EUR][1000 genomes]
rs1910690	0.97[ASN][1000 genomes]
rs197625	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs197627	0.81[CEU][hapmap];0.81[GIH][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes]
rs197636	0.94[MEX][hapmap]
rs197637	0.94[MEX][hapmap]
rs197642	0.94[MEX][hapmap]
rs197643	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs197644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197645	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs197647	0.92[CEU][hapmap];0.81[JPT][hapmap];0.95[EUR][1000 genomes]
rs197649	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197650	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs2251472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2656093	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs2656094	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2764665	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs471548	0.95[EUR][1000 genomes]
rs486809	0.88[ASN][1000 genomes]
rs488405	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492781	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs492905	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492986	0.85[EUR][1000 genomes]
rs493846	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499397	1.00[CHB][hapmap];0.82[CHD][hapmap];0.84[JPT][hapmap]
rs515802	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs524171	0.85[EUR][1000 genomes]
rs529527	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs537441	0.93[ASN][1000 genomes]
rs539229	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542873	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs542949	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572092	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs583845	0.95[EUR][1000 genomes]
rs584147	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs587046	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs593154	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595568	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs597941	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs611276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs614488	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620214	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs627489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627550	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs627936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs655277	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs657612	0.86[ASN][1000 genomes]
rs659069	0.96[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs663975	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs66894620	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs669931	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675075	0.86[ASN][1000 genomes]
rs686702	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs693942	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs706385	1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs7529737	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs924850	0.81[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.84[EUR][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:13 , 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	chr1:57718800-57727800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:57724000-57726000	Enhancers	Fetal Brain Female	brain
7	chr1:57724400-57726200	Enhancers	Brain Anterior Caudate	brain
8	chr1:57724400-57726400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:57724400-57726400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:57724600-57726000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:57724800-57725600	Enhancers	Brain Germinal Matrix	brain
12	chr1:57724800-57726000	Enhancers	Colon Smooth Muscle	Colon
13	chr1:57725200-57726000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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