Variant report

Variant	rs28943875
Chromosome Location	chr5:42519072-42519073
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	chr5:42517998..42519578-chr5:42522627..42524387,2	K562	blood:
2	chr5:42518684..42521037-chr5:42577892..42580696,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10941577	0.95[ASN][1000 genomes]
rs11739243	0.95[ASN][1000 genomes]
rs11741390	0.95[ASN][1000 genomes]
rs11748084	0.94[ASN][1000 genomes]
rs12514403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12515480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12517368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12522421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654986	0.82[AMR][1000 genomes]
rs13153388	0.95[ASN][1000 genomes]
rs13166255	0.94[ASN][1000 genomes]
rs13166285	0.95[ASN][1000 genomes]
rs13169289	0.95[ASN][1000 genomes]
rs13178282	0.94[ASN][1000 genomes]
rs13178652	0.95[ASN][1000 genomes]
rs13189275	0.95[ASN][1000 genomes]
rs1509462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2089645	0.84[ASN][1000 genomes]
rs28498583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28943877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28943879	0.84[ASN][1000 genomes]
rs2940913	0.95[ASN][1000 genomes]
rs2940937	0.97[ASN][1000 genomes]
rs2940944	0.95[ASN][1000 genomes]
rs2972392	0.95[ASN][1000 genomes]
rs2972393	0.95[ASN][1000 genomes]
rs2972418	0.97[ASN][1000 genomes]
rs2972420	0.95[ASN][1000 genomes]
rs33956936	0.95[ASN][1000 genomes]
rs34069689	1.00[EUR][1000 genomes]
rs35500216	0.97[ASN][1000 genomes]
rs4130114	0.95[ASN][1000 genomes]
rs4509029	0.95[ASN][1000 genomes]
rs4530764	0.95[ASN][1000 genomes]
rs4866781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866785	1.00[EUR][1000 genomes]
rs4866788	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4866901	1.00[AMR][1000 genomes]
rs4866919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866931	0.95[ASN][1000 genomes]
rs4866932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866934	0.95[ASN][1000 genomes]
rs4866935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58179197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451621	0.92[ASN][1000 genomes]
rs6451622	0.87[ASN][1000 genomes]
rs6451624	0.95[ASN][1000 genomes]
rs6897318	0.95[ASN][1000 genomes]
rs7705834	0.95[ASN][1000 genomes]
rs7710528	0.91[ASN][1000 genomes]
rs7721578	0.95[ASN][1000 genomes]
rs7723304	0.94[ASN][1000 genomes]
rs949559	1.00[AFR][1000 genomes];0.98[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42515600-42520600	Weak transcription	Fetal Heart	heart
2	chr5:42515800-42520800	Weak transcription	Aorta	Aorta
3	chr5:42516400-42521400	Enhancers	Fetal Muscle Leg	muscle
4	chr5:42516400-42525000	Enhancers	Adipose Nuclei	Adipose
5	chr5:42516600-42519200	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:42516600-42521600	Enhancers	Colon Smooth Muscle	Colon
7	chr5:42517000-42520200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:42517200-42520600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:42517400-42520800	Weak transcription	Colonic Mucosa	Colon
10	chr5:42517600-42519400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:42517600-42519600	Weak transcription	Fetal Kidney	kidney
12	chr5:42517600-42519800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:42517600-42520800	Weak transcription	Right Atrium	heart
14	chr5:42517600-42522400	Enhancers	Liver	Liver
15	chr5:42518200-42521600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:42518400-42519400	Enhancers	NHDF-Ad	bronchial
17	chr5:42518400-42520000	Enhancers	Fetal Stomach	stomach
18	chr5:42518600-42519200	Enhancers	Left Ventricle	heart
19	chr5:42518600-42519200	Enhancers	Ovary	ovary
20	chr5:42518600-42519200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:42518600-42519400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:42518600-42521200	Enhancers	Fetal Lung	lung
23	chr5:42518800-42519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:42518800-42519200	Enhancers	Right Ventricle	heart
25	chr5:42518800-42519200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr5:42518800-42519400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr5:42518800-42519800	Weak transcription	Psoas Muscle	Psoas
28	chr5:42518800-42520600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:42519000-42519200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:42519000-42519400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:42519000-42520200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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