Variant report

Variant	rs427928
Chromosome Location	chr20:15143043-15143044
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1657964	0.99[ASN][1000 genomes]
rs383066	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs383641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs389281	0.81[AFR][1000 genomes]
rs394543	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs396513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402995	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs448155	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs461666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs463693	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs464320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708975	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799175	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs799176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066070	chr20:14627662-15180181	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948395	chr20:14667415-15161670	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv585488	chr20:14764611-15150730	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1065152	chr20:14781684-15305258	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv912754	chr20:14817453-15170958	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1057120	chr20:14837251-15166775	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv931936	chr20:14838217-15154763	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv912767	chr20:14854935-15189598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv585540	chr20:14858910-15242365	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1066220	chr20:14883338-15204628	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv912774	chr20:14901776-15177309	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1057548	chr20:14910001-15172302	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv868936	chr20:14928568-15183054	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1063917	chr20:14939608-15206129	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv912778	chr20:14949763-15207464	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1062252	chr20:14964258-15547739	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv544206	chr20:14964258-15547739	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv932106	chr20:14964459-15203333	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1058314	chr20:14978835-15149030	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv1060511	chr20:14982565-15157970	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	nsv524481	chr20:15007730-15382919	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv916795	chr20:15041479-15345528	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	nsv1062960	chr20:15045757-15204628	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv1065611	chr20:15049686-15179481	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	nsv1065831	chr20:15052434-15144763	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1064739	chr20:15052434-15154575	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1063637	chr20:15052434-15154706	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv2763667	chr20:15052446-15170143	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv516721	chr20:15052514-15143806	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv585570	chr20:15052514-15143806	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv458924	chr20:15054436-15143806	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv458925	chr20:15054436-15143806	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv585571	chr20:15054436-15143806	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv585572	chr20:15057510-15143806	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
35	nsv458926	chr20:15058029-15147150	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
36	nsv585573	chr20:15058029-15147150	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
37	nsv458927	chr20:15063679-15143806	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
38	nsv585574	chr20:15063679-15143806	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
39	nsv1057455	chr20:15069821-15198608	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
40	nsv1060275	chr20:15084485-15327541	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	nsv526767	chr20:15086277-15223632	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
42	nsv585578	chr20:15112292-15143806	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
43	nsv458931	chr20:15112292-15156130	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
44	nsv585579	chr20:15112292-15156130	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
45	nsv585580	chr20:15121563-15147150	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
46	esv3367600	chr20:15140052-15143650	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15142800-15143200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr20:15142800-15143200	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr20:15142800-15143200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr20:15142800-15143200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr20:15142800-15143200	Active TSS	A549	lung
6	chr20:15142800-15143400	Active TSS	Primary T cells fromperipheralblood	blood
7	chr20:15142800-15143400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr20:15142800-15143400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr20:15142800-15143400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:15142800-15143400	Active TSS	Duodenum Mucosa	Duodenum
11	chr20:15142800-15143400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr20:15142800-15143400	Active TSS	Ovary	ovary
13	chr20:15142800-15143400	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr20:15142800-15143600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr20:15142800-15143600	Flanking Active TSS	GM12878-XiMat	blood
16	chr20:15142800-15143600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr20:15142800-15143800	Flanking Active TSS	Dnd41	blood
18	chr20:15143000-15143200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr20:15143000-15143200	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr20:15143000-15143200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr20:15143000-15143200	Flanking Active TSS	Fetal Thymus	thymus
22	chr20:15143000-15143400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr20:15143000-15143400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:15143000-15143400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr20:15143000-15143400	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr20:15143000-15143400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr20:15143000-15143400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr20:15143000-15143400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr20:15143000-15143400	Active TSS	Adipose Nuclei	Adipose
30	chr20:15143000-15143400	Flanking Active TSS	Liver	Liver
31	chr20:15143000-15143400	Active TSS	Fetal Intestine Large	intestine
32	chr20:15143000-15143400	Active TSS	Fetal Intestine Small	intestine
33	chr20:15143000-15143400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr20:15143000-15143400	Active TSS	Rectal Smooth Muscle	rectum
35	chr20:15143000-15143400	Active TSS	Right Atrium	heart
36	chr20:15143000-15143400	Active TSS	Thymus	Thymus
37	chr20:15143000-15143400	Flanking Active TSS	HepG2	liver
38	chr20:15143000-15143400	Active TSS	NHDF-Ad	bronchial
39	chr20:15143000-15143400	Active TSS	Osteobl	bone
40	chr20:15143000-15143600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr20:15143000-15143600	Active TSS	Colon Smooth Muscle	Colon
42	chr20:15143000-15143800	Active TSS	Primary hematopoietic stem cells	blood

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