Variant report

Variant	rs675075
Chromosome Location	chr1:57755276-57755277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1149628	0.98[ASN][1000 genomes]
rs1424473	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1910690	0.86[ASN][1000 genomes]
rs197625	0.85[ASN][1000 genomes]
rs197626	0.81[ASN][1000 genomes]
rs197638	0.86[ASN][1000 genomes]
rs197644	0.86[ASN][1000 genomes]
rs197645	0.84[ASN][1000 genomes]
rs197649	0.86[ASN][1000 genomes]
rs1991093	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251472	0.85[ASN][1000 genomes]
rs2432690	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2656093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2656094	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2764665	0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs485723	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs486809	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs487566	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs488405	0.86[ASN][1000 genomes]
rs492781	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492905	0.86[ASN][1000 genomes]
rs493846	0.86[ASN][1000 genomes]
rs499397	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs501921	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs508389	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs515802	0.86[ASN][1000 genomes]
rs529527	0.85[ASN][1000 genomes]
rs537441	0.81[ASN][1000 genomes]
rs539229	0.83[ASN][1000 genomes]
rs542873	0.85[ASN][1000 genomes]
rs542949	0.85[ASN][1000 genomes]
rs545671	0.86[EUR][1000 genomes]
rs568843	0.81[EUR][1000 genomes]
rs572092	0.86[ASN][1000 genomes]
rs576038	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs581886	0.82[EUR][1000 genomes]
rs584147	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs587046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593154	0.86[ASN][1000 genomes]
rs595513	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597941	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs610360	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs611276	0.85[ASN][1000 genomes]
rs611606	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs614488	0.85[ASN][1000 genomes]
rs620214	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs622423	0.82[EUR][1000 genomes]
rs627489	0.85[ASN][1000 genomes]
rs627550	0.95[ASN][1000 genomes]
rs627936	0.85[ASN][1000 genomes]
rs634391	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs637379	0.82[EUR][1000 genomes]
rs642526	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs643382	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs655277	0.86[ASN][1000 genomes]
rs657612	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs659069	0.85[ASN][1000 genomes]
rs663975	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66894620	0.83[ASN][1000 genomes]
rs669931	0.83[ASN][1000 genomes]
rs680197	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs686702	0.86[ASN][1000 genomes]
rs693942	0.85[ASN][1000 genomes]
rs706385	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs833626	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57742200-57755400	Weak transcription	Fetal Brain Male	brain
2	chr1:57747600-57769400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:57751600-57765600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57751600-57770600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:57753000-57759400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57754800-57755600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:57755000-57756200	Enhancers	Fetal Brain Female	brain
8	chr1:57755200-57755600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:57755200-57755600	Enhancers	Cortex derived primary cultured neurospheres	brain

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