Variant report

Variant	nsv585780
Chromosome Location	chr20:26256565-26285874
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3609 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:3609 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs816533	chr20:26256565-26256566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529002728	chr20:26256576-26256577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548661164	chr20:26256578-26256579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371188727	chr20:26256590-26256591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78108955	chr20:26256618-26256619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74318082	chr20:26256622-26256623	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113005411	chr20:26256659-26256660	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559361515	chr20:26256676-26256677	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73359471	chr20:26256679-26256680	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs117551240	chr20:26256686-26256687	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200890138	chr20:26256704-26256705	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs80080486	chr20:26256720-26256721	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571071093	chr20:26256727-26256728	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371878715	chr20:26256745-26256746	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145529952	chr20:26256764-26256765	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200052934	chr20:26256769-26256770	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs550224522	chr20:26256776-26256777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs79543189	chr20:26256785-26256786	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372017663	chr20:26256793-26256794	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs376919387	chr20:26256796-26256797	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs36145393	chr20:26256817-26256818	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77483857	chr20:26256819-26256820	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371738967	chr20:26256831-26256832	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76063958	chr20:26256835-26256836	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139916989	chr20:26256839-26256840	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145328727	chr20:26256840-26256841	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs535993088	chr20:26256861-26256862	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73359472	chr20:26256863-26256864	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs77508605	chr20:26256897-26256898	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs555588729	chr20:26256900-26256901	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs572475652	chr20:26256904-26256905	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534533715	chr20:26256920-26256921	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78473341	chr20:26256921-26256922	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs74274560	chr20:26256937-26256938	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs186733939	chr20:26256940-26256941	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184536005	chr20:26256951-26256952	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs374242093	chr20:26256954-26256955	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs370555541	chr20:26256960-26256961	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs77688962	chr20:26256971-26256972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79515279	chr20:26256979-26256980	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs200909641	chr20:26256988-26256989	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74274561	chr20:26256995-26256996	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs78062607	chr20:26257010-26257011	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs76443111	chr20:26257014-26257015	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73904557	chr20:26257041-26257042	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs73904558	chr20:26257047-26257048	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs75043075	chr20:26257061-26257062	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs75846387	chr20:26257080-26257081	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs577888909	chr20:26257084-26257085	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs80058377	chr20:26257091-26257092	ZNF genes & repeats Active TSS	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:212 , 50 per page) page: 1 2 3 4 5

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

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