Variant report

Variant	rs267638
Chromosome Location	chr1:57782629-57782630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10047071	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs10047073	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs10493219	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs10493225	1.00[JPT][hapmap]
rs1077424	0.89[CHD][hapmap]
rs10889034	1.00[JPT][hapmap]
rs10889035	0.81[ASN][1000 genomes]
rs10889038	0.92[CHD][hapmap]
rs10889039	0.92[CHD][hapmap]
rs10889042	0.88[CHD][hapmap]
rs10889044	0.86[JPT][hapmap]
rs11207010	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11207011	0.89[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11207013	0.81[ASN][1000 genomes]
rs11207016	0.92[CHD][hapmap]
rs11207026	0.88[CHD][hapmap]
rs1149630	0.97[ASN][1000 genomes]
rs11585751	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs12044912	1.00[JPT][hapmap]
rs12046102	1.00[JPT][hapmap]
rs12061812	1.00[JPT][hapmap]
rs12085326	0.86[ASN][1000 genomes]
rs12087888	0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12119210	0.92[CHD][hapmap]
rs12128305	0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12132685	1.00[JPT][hapmap]
rs12136107	0.86[JPT][hapmap]
rs12137169	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs12139429	0.88[CHD][hapmap]
rs12142821	1.00[JPT][hapmap]
rs12240237	0.86[JPT][hapmap]
rs1240439	0.93[ASN][1000 genomes]
rs1240442	0.86[JPT][hapmap]
rs12405761	0.86[JPT][hapmap]
rs12568449	1.00[JPT][hapmap]
rs12726704	1.00[JPT][hapmap]
rs12752978	1.00[JPT][hapmap]
rs1334239	1.00[JPT][hapmap]
rs1334240	1.00[JPT][hapmap]
rs1424463	0.84[JPT][hapmap]
rs1424465	0.92[CHD][hapmap]
rs1424467	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs166514	1.00[JPT][hapmap]
rs17115686	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs17423255	0.92[CHD][hapmap]
rs17424216	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs17425017	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs17425189	1.00[JPT][hapmap]
rs17456661	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs17459384	0.86[JPT][hapmap]
rs17459948	1.00[JPT][hapmap]
rs1809976	0.81[ASN][1000 genomes]
rs1862925	0.92[CHD][hapmap]
rs2216808	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs2405696	0.86[JPT][hapmap]
rs2405697	0.92[CHD][hapmap]
rs2405994	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs267646	0.93[ASN][1000 genomes]
rs267647	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs267650	0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs267651	0.84[CHD][hapmap]
rs269038	0.92[CHD][hapmap]
rs269045	0.88[CHD][hapmap]
rs269049	0.88[CHD][hapmap]
rs2781325	1.00[JPT][hapmap]
rs35804651	0.81[ASN][1000 genomes]
rs374845	0.97[ASN][1000 genomes]
rs3850549	0.88[CHD][hapmap]
rs3850552	0.84[CHD][hapmap]
rs3850556	0.80[CHD][hapmap]
rs3861834	0.84[CHD][hapmap]
rs3896279	0.88[CHD][hapmap]
rs390203	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3909556	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs4279875	1.00[JPT][hapmap]
rs439378	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4912163	1.00[JPT][hapmap]
rs4912244	0.86[JPT][hapmap]
rs532926	0.88[CHD][hapmap]
rs540431	0.88[CHD][hapmap]
rs563099	0.88[CHD][hapmap]
rs563270	0.86[CHD][hapmap]
rs566847	0.84[CHD][hapmap]
rs567773	0.92[CHD][hapmap]
rs6587767	0.84[CHD][hapmap]
rs6669975	1.00[JPT][hapmap]
rs6687842	0.88[CHD][hapmap]
rs6687934	0.92[CHD][hapmap]
rs736109	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.87[YRI][hapmap];0.97[ASN][1000 genomes]
rs736110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs746937	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7513076	0.86[JPT][hapmap]
rs7535763	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs7547509	0.81[ASN][1000 genomes]
rs77510	0.81[ASN][1000 genomes]
rs77511	0.81[ASN][1000 genomes]
rs882283	0.81[ASN][1000 genomes]
rs90940	0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs924848	0.83[ASN][1000 genomes]
rs94216	0.97[ASN][1000 genomes]
rs9436130	1.00[JPT][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs267638	C1orf168	cis	cerebellum	SCAN
rs267638	DAB1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57779800-57784800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57779800-57784800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57780400-57784600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:57780400-57787000	Weak transcription	Fetal Brain Male	brain
7	chr1:57782000-57784600	Weak transcription	Fetal Brain Female	brain
8	chr1:57782600-57783000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links