Variant report

Variant	rs980947
Chromosome Location	chr1:185985931-185985932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185984759..185987370-chr1:185991032..185993394,2	K562	blood:
2	chr1:185982123..185983643-chr1:185983704..185986559,2	MCF-7	breast:
3	chr1:185984743..185986482-chr1:185986576..185988727,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10157924	0.81[JPT][hapmap]
rs10158272	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737266	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10752958	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10752959	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798028	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798031	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798032	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798034	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798036	0.81[JPT][hapmap]
rs10911799	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911805	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911806	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911807	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10911808	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911816	0.81[JPT][hapmap]
rs12091407	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12129650	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12144523	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12565788	0.81[JPT][hapmap]
rs12566113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1540925	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569989	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs1590273	0.82[JPT][hapmap]
rs2024901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070282	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2146098	0.81[JPT][hapmap]
rs2208084	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2208085	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2224276	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2224277	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3795406	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4141459	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4626827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4650689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650690	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650692	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4650693	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4651290	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4651291	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4651292	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4651293	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6425012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6425013	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6425014	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6658592	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6658929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659819	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6665753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6679262	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6684429	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6688811	0.88[CEU][hapmap]
rs6698240	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716755	0.90[JPT][hapmap]
rs720972	0.81[JPT][hapmap]
rs743136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs743137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs743138	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7512909	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7520459	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522627	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527490	0.81[JPT][hapmap]
rs7535056	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7541013	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7544709	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7555520	0.81[JPT][hapmap]
rs7556344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9286859	0.81[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185938800-185990200	Weak transcription	Liver	Liver
3	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
7	chr1:185964200-186014800	Weak transcription	Lung	lung
8	chr1:185979200-185992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:185979200-186003200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:185979400-186003200	Weak transcription	Aorta	Aorta
11	chr1:185983800-185988000	Weak transcription	Ovary	ovary
12	chr1:185984000-185987600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:185984000-185999000	Weak transcription	NHDF-Ad	bronchial
14	chr1:185984200-185986200	Weak transcription	HUVEC	blood vessel
15	chr1:185984400-185987800	Weak transcription	Fetal Kidney	kidney
16	chr1:185984600-185986000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:185984600-185986000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:185984600-185986000	Weak transcription	Osteobl	bone
19	chr1:185984600-185986200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:185984600-185995000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:185984800-185986200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:185985400-186023800	Weak transcription	Left Ventricle	heart

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