Variant report

Variant	rs627493
Chromosome Location	chr1:78643375-78643376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs10873966	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162418	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162420	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162421	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162422	0.97[ASN][1000 genomes]
rs11162423	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162425	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11584032	0.99[ASN][1000 genomes]
rs12082228	0.98[ASN][1000 genomes]
rs12083265	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12095545	0.84[EUR][1000 genomes]
rs12131414	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12133075	0.94[ASN][1000 genomes]
rs12749252	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323094	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1359043	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407747	0.85[ASN][1000 genomes]
rs1407748	0.85[ASN][1000 genomes]
rs1621088	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1625234	0.85[ASN][1000 genomes]
rs1770306	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1770307	0.89[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1770313	0.83[AMR][1000 genomes]
rs2025610	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2025611	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2025612	0.95[ASN][1000 genomes]
rs2025613	0.94[ASN][1000 genomes]
rs2025614	0.95[ASN][1000 genomes]
rs2146612	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2208966	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2209472	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351907	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351909	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2351910	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2882796	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2882797	0.97[ASN][1000 genomes]
rs2882798	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4258183	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4258184	0.85[ASN][1000 genomes]
rs4268312	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4285658	0.85[ASN][1000 genomes]
rs4396076	0.98[ASN][1000 genomes]
rs4529663	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4587522	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650313	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650315	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650382	0.81[CEU][hapmap]
rs4650607	0.83[ASN][1000 genomes]
rs488469	0.81[ASN][1000 genomes]
rs501774	0.81[ASN][1000 genomes]
rs513245	0.81[ASN][1000 genomes]
rs513977	0.81[ASN][1000 genomes]
rs561289	0.81[ASN][1000 genomes]
rs577978	0.80[JPT][hapmap]
rs581926	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs582795	0.86[ASN][1000 genomes]
rs584660	0.80[JPT][hapmap]
rs585100	0.80[JPT][hapmap]
rs58611517	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591343	0.84[ASN][1000 genomes]
rs596803	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs597063	0.84[ASN][1000 genomes]
rs597272	0.86[ASN][1000 genomes]
rs599386	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs605659	0.80[JPT][hapmap]
rs60588097	0.90[ASN][1000 genomes]
rs610508	0.86[ASN][1000 genomes]
rs614963	0.80[JPT][hapmap]
rs616518	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61777350	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs618063	0.82[ASN][1000 genomes]
rs618551	0.81[ASN][1000 genomes]
rs618581	0.80[ASN][1000 genomes]
rs618593	0.81[ASN][1000 genomes]
rs619749	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs624766	0.81[ASN][1000 genomes]
rs627549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627661	0.80[JPT][hapmap]
rs633664	0.82[ASN][1000 genomes]
rs634741	0.86[ASN][1000 genomes]
rs637943	0.81[ASN][1000 genomes]
rs638232	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs640124	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs642248	0.80[JPT][hapmap]
rs6424716	0.99[ASN][1000 genomes]
rs6424717	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644332	0.83[ASN][1000 genomes]
rs649502	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651413	0.87[ASN][1000 genomes]
rs653899	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs656372	0.81[ASN][1000 genomes]
rs658212	0.81[ASN][1000 genomes]
rs659902	0.86[ASN][1000 genomes]
rs663254	0.80[JPT][hapmap]
rs672391	0.81[ASN][1000 genomes]
rs675799	0.82[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs677875	0.84[ASN][1000 genomes]
rs680143	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs680971	0.84[ASN][1000 genomes]
rs683097	0.83[ASN][1000 genomes]
rs684657	0.94[ASN][1000 genomes]
rs684996	0.84[ASN][1000 genomes]
rs688570	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs689374	0.90[CEU][hapmap];0.83[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs699009	0.81[ASN][1000 genomes]
rs72688712	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7367729	0.96[ASN][1000 genomes]
rs7417073	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7532752	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7555504	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9425188	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv1850497	chr1:78596312-78645701	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1000388	chr1:78638946-78665285	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
6	nsv520237	chr1:78639244-78660123	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78625200-78644400	Weak transcription	Pancreas	Pancrea
2	chr1:78635000-78646200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:78641600-78643400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:78641600-78643800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:78641800-78643800	Enhancers	NHDF-Ad	bronchial
6	chr1:78641800-78645200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:78642000-78643400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78642000-78643800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr1:78643000-78643400	Enhancers	Fetal Thymus	thymus
10	chr1:78643200-78644400	Weak transcription	Osteobl	bone

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