Variant report

Variant	rs61777350
Chromosome Location	chr1:78641624-78641625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10873966	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162418	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162420	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162421	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11162422	0.95[ASN][1000 genomes]
rs11162423	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11162425	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11584032	0.97[ASN][1000 genomes]
rs12082228	0.96[ASN][1000 genomes]
rs12083265	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12095545	0.82[EUR][1000 genomes]
rs12131414	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12133075	0.92[ASN][1000 genomes]
rs12749252	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1323094	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1359043	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1407747	0.83[ASN][1000 genomes]
rs1407748	0.83[ASN][1000 genomes]
rs1621088	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1625234	0.83[ASN][1000 genomes]
rs1770306	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1770307	0.84[ASN][1000 genomes]
rs1770313	0.82[AMR][1000 genomes]
rs2025610	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025611	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025612	0.93[ASN][1000 genomes]
rs2025613	0.92[ASN][1000 genomes]
rs2025614	0.93[ASN][1000 genomes]
rs2146612	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2208966	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2209472	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351907	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351909	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2351910	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2882796	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2882797	0.95[ASN][1000 genomes]
rs2882798	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4258183	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4258184	0.83[ASN][1000 genomes]
rs4268312	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285658	0.83[ASN][1000 genomes]
rs4396076	0.96[ASN][1000 genomes]
rs4529663	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4587522	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650313	0.97[ASN][1000 genomes]
rs4650315	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650607	0.81[ASN][1000 genomes]
rs558643	0.81[ASN][1000 genomes]
rs581926	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs582795	0.84[ASN][1000 genomes]
rs58611517	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs591343	0.82[ASN][1000 genomes]
rs596803	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs597063	0.82[ASN][1000 genomes]
rs597272	0.84[ASN][1000 genomes]
rs599386	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60588097	0.88[ASN][1000 genomes]
rs610508	0.84[ASN][1000 genomes]
rs616518	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs618063	0.80[ASN][1000 genomes]
rs619749	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627493	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs627549	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs633664	0.80[ASN][1000 genomes]
rs634741	0.84[ASN][1000 genomes]
rs638232	0.80[AMR][1000 genomes]
rs640124	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6424716	0.97[ASN][1000 genomes]
rs6424717	0.97[ASN][1000 genomes]
rs644332	0.81[ASN][1000 genomes]
rs649502	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs651413	0.85[ASN][1000 genomes]
rs653899	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs659902	0.84[ASN][1000 genomes]
rs675799	0.83[ASN][1000 genomes]
rs677875	0.82[ASN][1000 genomes]
rs680143	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs680971	0.82[ASN][1000 genomes]
rs683097	0.81[ASN][1000 genomes]
rs684657	0.92[ASN][1000 genomes]
rs684996	0.82[ASN][1000 genomes]
rs688570	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689374	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72688712	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7367729	0.94[ASN][1000 genomes]
rs7417073	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7532752	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7555504	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9425188	0.84[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:17 , 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	chr1:78638400-78641800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:78638400-78641800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:78638600-78641800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:78638600-78641800	Weak transcription	HSMM	muscle
7	chr1:78638600-78641800	Weak transcription	NHDF-Ad	bronchial
8	chr1:78638600-78641800	Weak transcription	NHEK	skin
9	chr1:78638600-78641800	Weak transcription	Osteobl	bone
10	chr1:78638600-78642000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:78638800-78641800	Weak transcription	HMEC	breast
12	chr1:78638800-78642000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:78638800-78642000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78641600-78642800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:78641600-78642800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:78641600-78643400	Enhancers	Fetal Muscle Leg	muscle
17	chr1:78641600-78643800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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