Variant report

Variant	rs10940427
Chromosome Location	chr5:54103204-54103205
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:
2	chr5:54098223..54100100-chr5:54101975..54104817,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10036257	0.94[ASN][1000 genomes]
rs10036606	0.94[ASN][1000 genomes]
rs10039924	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10042288	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10042394	0.94[ASN][1000 genomes]
rs10042495	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10043408	0.85[ASN][1000 genomes]
rs10045175	0.94[ASN][1000 genomes]
rs10045765	0.94[ASN][1000 genomes]
rs10045790	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10050561	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10053168	0.91[ASN][1000 genomes]
rs10057871	0.94[ASN][1000 genomes]
rs10058571	0.94[ASN][1000 genomes]
rs10058862	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10061958	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10066294	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10066622	0.94[ASN][1000 genomes]
rs10068073	0.82[ASN][1000 genomes]
rs10071183	0.83[ASN][1000 genomes]
rs10073662	0.83[ASN][1000 genomes]
rs10073721	0.83[ASN][1000 genomes]
rs10434559	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10461588	0.91[ASN][1000 genomes]
rs10471923	0.94[ASN][1000 genomes]
rs1073709	0.94[ASN][1000 genomes]
rs10737956	0.86[ASN][1000 genomes]
rs10805463	0.91[ASN][1000 genomes]
rs10805468	0.84[ASN][1000 genomes]
rs10805469	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10940428	0.94[ASN][1000 genomes]
rs11950757	0.81[ASN][1000 genomes]
rs11952681	0.90[ASN][1000 genomes]
rs11959080	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12514244	0.94[ASN][1000 genomes]
rs12515327	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12520494	0.93[ASN][1000 genomes]
rs12522199	0.94[ASN][1000 genomes]
rs13155441	0.94[ASN][1000 genomes]
rs13161386	0.90[ASN][1000 genomes]
rs13161718	0.90[ASN][1000 genomes]
rs13167527	0.94[ASN][1000 genomes]
rs13171964	0.90[ASN][1000 genomes]
rs13173669	0.94[ASN][1000 genomes]
rs13180287	0.94[ASN][1000 genomes]
rs13186826	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4242044	0.83[ASN][1000 genomes]
rs4242045	0.94[ASN][1000 genomes]
rs4242046	0.93[ASN][1000 genomes]
rs4242047	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4242048	0.90[ASN][1000 genomes]
rs4282277	0.82[ASN][1000 genomes]
rs4289528	0.93[ASN][1000 genomes]
rs4290968	0.91[ASN][1000 genomes]
rs4292417	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4298212	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4320207	0.93[ASN][1000 genomes]
rs4336310	0.91[ASN][1000 genomes]
rs4336311	0.90[ASN][1000 genomes]
rs4356994	0.83[ASN][1000 genomes]
rs4362906	0.94[ASN][1000 genomes]
rs4437335	0.90[ASN][1000 genomes]
rs4451013	0.91[ASN][1000 genomes]
rs4451014	0.90[ASN][1000 genomes]
rs4457032	0.91[ASN][1000 genomes]
rs4498213	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4505913	0.82[ASN][1000 genomes]
rs4515247	0.88[EUR][1000 genomes]
rs4519880	0.94[ASN][1000 genomes]
rs4527555	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4527556	0.94[ASN][1000 genomes]
rs4582235	0.90[ASN][1000 genomes]
rs4591702	0.94[ASN][1000 genomes]
rs4610422	0.94[ASN][1000 genomes]
rs4645296	0.87[ASN][1000 genomes]
rs4865870	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4865872	0.83[ASN][1000 genomes]
rs4865873	0.91[ASN][1000 genomes]
rs4865874	0.91[ASN][1000 genomes]
rs4865875	0.94[ASN][1000 genomes]
rs4865876	0.94[ASN][1000 genomes]
rs4865877	0.90[ASN][1000 genomes]
rs6450247	0.81[EUR][1000 genomes]
rs6450251	0.94[ASN][1000 genomes]
rs6450252	0.94[ASN][1000 genomes]
rs6450253	0.94[ASN][1000 genomes]
rs6860729	0.82[ASN][1000 genomes]
rs6863705	0.88[EUR][1000 genomes]
rs6867867	0.83[ASN][1000 genomes]
rs6887578	0.90[ASN][1000 genomes]
rs6892315	0.83[ASN][1000 genomes]
rs6899052	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7446423	0.94[ASN][1000 genomes]
rs7446869	0.90[ASN][1000 genomes]
rs7709225	0.88[EUR][1000 genomes]
rs7709401	0.88[EUR][1000 genomes]
rs7726707	0.88[EUR][1000 genomes]
rs7728303	0.94[ASN][1000 genomes]
rs7731103	0.91[ASN][1000 genomes]
rs9292072	0.88[EUR][1000 genomes]
rs9292073	0.83[ASN][1000 genomes]
rs9292074	0.94[ASN][1000 genomes]
rs9687636	0.94[ASN][1000 genomes]
rs9968754	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2754136	chr5:54083387-54107727	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54087600-54103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:54091000-54103600	Weak transcription	Aorta	Aorta
3	chr5:54100000-54103400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:54100600-54103400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:54100600-54103400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:54100600-54103600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:54101000-54103400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:54102200-54103600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:54102200-54103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:54102200-54103800	Weak transcription	Lung	lung
11	chr5:54103200-54103800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr5:54103200-54103800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:54103200-54103800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:54103200-54103800	Enhancers	Osteobl	bone
15	chr5:54103200-54104000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:54103200-54104000	Enhancers	Fetal Intestine Small	intestine
17	chr5:54103200-54104000	Enhancers	HMEC	breast
18	chr5:54103200-54104000	Enhancers	NHDF-Ad	bronchial
19	chr5:54103200-54104000	Enhancers	NHEK	skin
20	chr5:54103200-54104200	Enhancers	Stomach Mucosa	stomach
21	chr5:54103200-54104200	Enhancers	Hela-S3	cervix
22	chr5:54103200-54104200	Enhancers	NHLF	lung
23	chr5:54103200-54104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:54103200-54104800	Enhancers	HUVEC	blood vessel

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