Variant report

Variant	rs2008704
Chromosome Location	chr1:186466325-186466326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10489397	0.83[AMR][1000 genomes]
rs1108635	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11799322	0.87[AMR][1000 genomes]
rs11800288	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11800338	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11800651	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11801527	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11801617	0.84[EUR][1000 genomes]
rs11802705	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11803944	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11803969	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11804161	0.85[AMR][1000 genomes]
rs11804785	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11805597	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11806017	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11806329	0.87[AMR][1000 genomes]
rs11806663	0.87[AMR][1000 genomes]
rs11806701	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11807318	0.85[AMR][1000 genomes]
rs11807443	0.87[AMR][1000 genomes]
rs11807927	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11808165	0.81[AMR][1000 genomes]
rs11808643	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11808900	0.83[AMR][1000 genomes]
rs11810534	0.83[AMR][1000 genomes]
rs11811259	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11811260	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11811335	0.81[AMR][1000 genomes]
rs11812050	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12093901	0.81[ASN][1000 genomes]
rs12723621	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12726528	0.91[AMR][1000 genomes]
rs12726764	0.91[AMR][1000 genomes]
rs12731288	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12731687	0.82[AMR][1000 genomes]
rs12739006	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12739643	0.82[AMR][1000 genomes]
rs12747113	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12747991	0.91[AMR][1000 genomes]
rs12750686	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12752376	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12753223	0.87[AMR][1000 genomes]
rs12754662	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16825361	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825403	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16825434	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16825473	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16825519	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16825600	0.82[AMR][1000 genomes]
rs1883650	0.83[AMR][1000 genomes]
rs2206974	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2223783	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2223784	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2383509	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2891249	0.83[AMR][1000 genomes]
rs33963275	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33996079	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34200789	0.87[AMR][1000 genomes]
rs34228564	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34249733	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34272627	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34310508	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34459464	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34513409	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34578387	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34778311	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34781399	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34783173	0.80[AMR][1000 genomes]
rs34858233	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35205448	0.83[AMR][1000 genomes]
rs35206897	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35240980	0.87[AMR][1000 genomes]
rs35326401	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35461575	0.83[AMR][1000 genomes]
rs35481005	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35636342	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35868587	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35945739	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36016361	0.87[AMR][1000 genomes]
rs36030781	0.87[AMR][1000 genomes]
rs36053737	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3901243	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3901950	0.81[ASN][1000 genomes]
rs3933210	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4140432	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4140434	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58626385	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6674145	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6678198	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6680055	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6682896	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6683271	0.82[AMR][1000 genomes]
rs71634161	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71634164	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71634167	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71634173	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71634175	0.82[AMR][1000 genomes]
rs71634176	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186452200-186467800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:186452400-186468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:186459400-186471800	Weak transcription	Brain Angular Gyrus	brain
4	chr1:186462400-186467200	Weak transcription	NH-A	brain
5	chr1:186462600-186467400	Weak transcription	Stomach Mucosa	stomach
6	chr1:186462600-186469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:186462800-186467400	Weak transcription	Osteobl	bone
8	chr1:186462800-186467600	Weak transcription	Hela-S3	cervix
9	chr1:186462800-186468000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:186464200-186469600	Weak transcription	Aorta	Aorta
11	chr1:186464400-186466800	Weak transcription	GM12878-XiMat	blood
12	chr1:186464800-186467600	Weak transcription	HMEC	breast
13	chr1:186465000-186467200	Weak transcription	HUVEC	blood vessel
14	chr1:186465000-186467800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:186465200-186467400	Weak transcription	NHEK	skin
16	chr1:186465400-186467600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:186465400-186467600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:186465400-186468000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:186465400-186468600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:186465600-186467000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:186465800-186466800	Weak transcription	A549	lung
22	chr1:186466000-186467600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:186466200-186466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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