Variant report

Variant	rs16825639
Chromosome Location	chr1:186606050-186606051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186598408..186600581-chr1:186603611..186606250,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10489396	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10489397	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10911898	0.81[ASN][1000 genomes]
rs10911899	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11799322	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11800288	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11800338	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11801617	0.82[EUR][1000 genomes]
rs11802553	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11802705	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11804161	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11804785	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11806329	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11806663	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11806701	0.82[EUR][1000 genomes]
rs11807318	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11807443	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11807927	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11808165	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11808900	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11809088	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11810534	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11811047	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11811259	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11811260	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11811335	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12239058	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12239193	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12723621	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12726528	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12726764	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12731687	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12734267	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12734420	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12739006	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12739643	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12747806	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12747991	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12753223	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16825600	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16825646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16825671	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825675	0.81[ASN][1000 genomes]
rs16825681	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16825687	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883650	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1883651	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1883652	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2206974	0.82[ASN][1000 genomes]
rs2223783	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223784	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383509	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383512	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2383513	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383514	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891249	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2891250	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34101282	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34200789	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34249733	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34272627	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34310508	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34365031	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34513409	0.82[EUR][1000 genomes]
rs34560586	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34578387	0.82[EUR][1000 genomes]
rs34770837	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34778311	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34783173	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34858233	0.82[EUR][1000 genomes]
rs35084661	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35205448	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35240980	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35461575	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35481005	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35483551	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35636342	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36016361	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36030781	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4140432	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4511065	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58767753	0.87[AFR][1000 genomes]
rs6674145	0.82[EUR][1000 genomes]
rs6678198	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6680055	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6683271	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71634173	0.82[EUR][1000 genomes]
rs71634175	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71634176	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71634178	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71634179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71634186	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][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	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
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186602600-186614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186603200-186606400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:186605800-186606400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:186605800-186606400	Enhancers	NHEK	skin
5	chr1:186606000-186606200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:186606000-186606200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr1:186606000-186606200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:186606000-186606200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:186606000-186606200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:186606000-186606400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:186606000-186606400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:186606000-186606400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:186606000-186606400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:186606000-186606400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
15	chr1:186606000-186606400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr1:186606000-186606400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr1:186606000-186606400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:186606000-186606400	Flanking Active TSS	A549	lung
19	chr1:186606000-186606600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:186606000-186606800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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