Variant report

Variant	rs943561
Chromosome Location	chr13:30324946-30324947
allele	A/G
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:100)

rs_ID	r²[population]
rs1099277	0.82[ASN][1000 genomes]
rs12861019	0.82[ASN][1000 genomes]
rs12864739	0.82[ASN][1000 genomes]
rs12865525	0.82[ASN][1000 genomes]
rs12867537	0.82[ASN][1000 genomes]
rs12868298	0.82[ASN][1000 genomes]
rs12869833	0.82[ASN][1000 genomes]
rs12872768	0.82[ASN][1000 genomes]
rs12874615	0.82[ASN][1000 genomes]
rs12875231	0.82[ASN][1000 genomes]
rs12877107	0.82[ASN][1000 genomes]
rs1327643	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1571255	0.94[ASN][1000 genomes]
rs1631987	0.82[ASN][1000 genomes]
rs166760	0.82[ASN][1000 genomes]
rs17073897	0.82[ASN][1000 genomes]
rs17073905	0.82[ASN][1000 genomes]
rs17073919	0.82[ASN][1000 genomes]
rs1747057	0.82[ASN][1000 genomes]
rs1747058	0.82[ASN][1000 genomes]
rs1747059	0.82[ASN][1000 genomes]
rs1747060	0.82[ASN][1000 genomes]
rs1747061	0.82[ASN][1000 genomes]
rs1747062	0.82[ASN][1000 genomes]
rs1747063	0.82[ASN][1000 genomes]
rs17502757	0.82[ASN][1000 genomes]
rs1772726	0.82[ASN][1000 genomes]
rs2009535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031280	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2182775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182777	0.88[ASN][1000 genomes]
rs2256122	0.82[ASN][1000 genomes]
rs2476650	0.82[ASN][1000 genomes]
rs2476651	0.82[ASN][1000 genomes]
rs2761929	0.82[ASN][1000 genomes]
rs2761930	0.82[ASN][1000 genomes]
rs2761931	0.82[ASN][1000 genomes]
rs2761932	0.82[ASN][1000 genomes]
rs2761934	0.82[ASN][1000 genomes]
rs2761936	0.82[ASN][1000 genomes]
rs278031	0.82[ASN][1000 genomes]
rs278032	0.82[ASN][1000 genomes]
rs278033	0.82[ASN][1000 genomes]
rs278035	0.82[ASN][1000 genomes]
rs278036	0.82[ASN][1000 genomes]
rs278039	0.82[ASN][1000 genomes]
rs278043	0.82[ASN][1000 genomes]
rs278047	0.82[ASN][1000 genomes]
rs2794295	0.82[ASN][1000 genomes]
rs2794296	0.82[ASN][1000 genomes]
rs2794297	0.82[ASN][1000 genomes]
rs2794299	0.82[ASN][1000 genomes]
rs2794300	0.82[ASN][1000 genomes]
rs3118078	0.82[ASN][1000 genomes]
rs3118080	0.82[ASN][1000 genomes]
rs34232669	0.82[ASN][1000 genomes]
rs35693706	0.82[ASN][1000 genomes]
rs35828457	0.82[ASN][1000 genomes]
rs36082926	0.82[ASN][1000 genomes]
rs4083609	0.82[ASN][1000 genomes]
rs4142339	0.82[ASN][1000 genomes]
rs4142340	0.82[ASN][1000 genomes]
rs4335642	0.85[AFR][1000 genomes]
rs4379924	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4385989	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4399408	0.82[ASN][1000 genomes]
rs4611301	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769021	1.00[ASN][1000 genomes]
rs4769023	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4769024	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4769773	0.82[ASN][1000 genomes]
rs57634252	0.82[ASN][1000 genomes]
rs58961964	0.82[ASN][1000 genomes]
rs6490427	0.82[ASN][1000 genomes]
rs6490428	0.82[ASN][1000 genomes]
rs6490431	0.82[ASN][1000 genomes]
rs71427282	0.82[ASN][1000 genomes]
rs71427283	0.82[ASN][1000 genomes]
rs71434755	0.87[EUR][1000 genomes]
rs71434758	0.82[ASN][1000 genomes]
rs719199	0.82[ASN][1000 genomes]
rs7322158	0.94[ASN][1000 genomes]
rs74044752	0.82[ASN][1000 genomes]
rs7983788	0.82[ASN][1000 genomes]
rs7985986	0.82[ASN][1000 genomes]
rs7992684	0.82[ASN][1000 genomes]
rs8000607	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8001320	0.82[ASN][1000 genomes]
rs8001330	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818764	0.82[ASN][1000 genomes]
rs912394	0.94[ASN][1000 genomes]
rs9314977	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9506223	0.82[EUR][1000 genomes]
rs9508549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508551	0.82[ASN][1000 genomes]
rs9550492	0.82[ASN][1000 genomes]
rs9551734	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs968612	0.82[ASN][1000 genomes]
rs9788356	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30317600-30335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30324200-30328000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30324400-30327800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:30324600-30327800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:30324600-30328000	Weak transcription	Osteobl	bone
6	chr13:30324600-30328200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:30324600-30328200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
9	chr13:30324800-30328200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:30324800-30328200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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