Variant report

Variant	nsv1057613
Chromosome Location	chr20:26239355-26305567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6553 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:6553 , 50 per page) page: 1 2 3 4 5 6 7 ... 132

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200711392	chr20:26241612-26241613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372527157	chr20:26241648-26241649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543919994	chr20:26241655-26241656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369709088	chr20:26241658-26241659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201688492	chr20:26241669-26241670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192292797	chr20:26241689-26241690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75035052	chr20:26241695-26241696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200207232	chr20:26241729-26241730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372768617	chr20:26241730-26241731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183662484	chr20:26241764-26241765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188719580	chr20:26241775-26241776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75916235	chr20:26241799-26241800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6076408	chr20:26241802-26241803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369278953	chr20:26241805-26241806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528327935	chr20:26241813-26241814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368877440	chr20:26241823-26241824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34960068	chr20:26241824-26241825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6084091	chr20:26241837-26241838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371271827	chr20:26241845-26241846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200806811	chr20:26241881-26241882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58977069	chr20:26241902-26241903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200789275	chr20:26241903-26241904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75294811	chr20:26241904-26241905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78029345	chr20:26241930-26241931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201215595	chr20:26241941-26241942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75884293	chr20:26241960-26241961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570875644	chr20:26241985-26241986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556763977	chr20:26253010-26253011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76570567	chr20:26253014-26253015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567118666	chr20:26253027-26253028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199624116	chr20:26253036-26253037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77025872	chr20:26253054-26253055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536178993	chr20:26253070-26253071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80174233	chr20:26253071-26253072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79686727	chr20:26253073-26253074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76159246	chr20:26253079-26253080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552855099	chr20:26253120-26253121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200954390	chr20:26253135-26253136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112743186	chr20:26253138-26253139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368301989	chr20:26253139-26253140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201274885	chr20:26253157-26253158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62199349	chr20:26253168-26253169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6138842	chr20:26253179-26253180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573046409	chr20:26253184-26253185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62199350	chr20:26253209-26253210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544700753	chr20:26253219-26253220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558492743	chr20:26253233-26253234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111844894	chr20:26253246-26253247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74574933	chr20:26253257-26253258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80032329	chr20:26253288-26253289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26241600-26242000	Enhancers	Dnd41	blood
2	chr20:26253000-26253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:26253200-26257000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:26256600-26257600	Active TSS	Spleen	Spleen
5	chr20:26257000-26257200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:26257000-26257400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:26257200-26257400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
9	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr20:26257200-26257800	Active TSS	Osteobl	bone
11	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
13	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
14	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
18	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
20	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
22	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
23	chr20:26257800-26259000	Weak transcription	Osteobl	bone
24	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
25	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr20:26258800-26259200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
34	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
35	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
36	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
37	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr20:26259600-26260400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr20:26259600-26260400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr20:26259600-26261000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr20:26259600-26262800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr20:26259800-26260200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
46	chr20:26259800-26260200	ZNF genes & repeats	Colon Smooth Muscle	Colon
47	chr20:26259800-26260400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr20:26259800-26260400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr20:26259800-26260400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr20:26259800-26260400	ZNF genes & repeats	Adipose Nuclei	Adipose

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