Variant report

Variant	esv3450918
Chromosome Location	chr20:26257452-26271350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1919 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1919 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74652449	chr20:26257452-26257453	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs75456712	chr20:26257459-26257460	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs566075645	chr20:26257464-26257465	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs76490092	chr20:26257466-26257467	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs36185117	chr20:26257467-26257468	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs75125392	chr20:26257480-26257481	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs79778216	chr20:26257489-26257490	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs558844634	chr20:26257491-26257492	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs77303575	chr20:26257495-26257496	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs77990105	chr20:26257503-26257504	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs78532737	chr20:26257532-26257533	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79527977	chr20:26257534-26257535	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571103064	chr20:26257539-26257540	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs6115592	chr20:26257541-26257542	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78862439	chr20:26257545-26257546	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs80286009	chr20:26257549-26257550	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs556843607	chr20:26257558-26257559	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs75569112	chr20:26257560-26257561	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs386813641	chr20:26257563-26257564	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs74824967	chr20:26257565-26257566	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs181426514	chr20:26257569-26257570	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs562052703	chr20:26257582-26257583	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs79047790	chr20:26257600-26257601	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs75906946	chr20:26257606-26257607	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs74322170	chr20:26257607-26257608	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs75329847	chr20:26257609-26257610	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs76358184	chr20:26257611-26257612	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs78240006	chr20:26257613-26257614	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs76004742	chr20:26257614-26257615	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs80158553	chr20:26257622-26257623	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs201890459	chr20:26257627-26257628	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs552916050	chr20:26257629-26257630	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs572878331	chr20:26257640-26257641	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs75292557	chr20:26257641-26257642	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs78570841	chr20:26257642-26257643	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs79433667	chr20:26257656-26257657	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs36132857	chr20:26257668-26257669	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs78635879	chr20:26257669-26257670	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs6115593	chr20:26257676-26257677	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs369600139	chr20:26257677-26257678	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs186237005	chr20:26257696-26257697	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs533574856	chr20:26257709-26257710	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs189564757	chr20:26257728-26257729	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs563993344	chr20:26257731-26257732	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs529597235	chr20:26257733-26257734	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs200304279	chr20:26257735-26257736	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs79733470	chr20:26257749-26257750	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs549138838	chr20:26257761-26257762	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs199698836	chr20:26257789-26257790	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs529592218	chr20:26257790-26257791	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	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:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26256600-26257600	Active TSS	Spleen	Spleen
2	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:26257200-26257600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr20:26257200-26257800	Active TSS	Osteobl	bone
5	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
7	chr20:26257400-26257600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
8	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
12	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
14	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
16	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
17	chr20:26257800-26259000	Weak transcription	Osteobl	bone
18	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
19	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr20:26258800-26259200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
25	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
27	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
28	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
29	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
30	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
31	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr20:26259600-26260400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:26259600-26260400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr20:26259600-26261000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr20:26259600-26262800	ZNF genes & repeats	Primary T cells from cord blood	blood
39	chr20:26259800-26260200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
40	chr20:26259800-26260200	ZNF genes & repeats	Colon Smooth Muscle	Colon
41	chr20:26259800-26260400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr20:26259800-26260400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr20:26259800-26260400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr20:26259800-26260400	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr20:26259800-26260400	ZNF genes & repeats	Liver	Liver
46	chr20:26259800-26260400	ZNF genes & repeats	Gastric	stomach
47	chr20:26259800-26260400	ZNF genes & repeats	NH-A	brain
48	chr20:26260000-26260200	ZNF genes & repeats	K562	blood
49	chr20:26260200-26260400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr20:26260200-26262200	Weak transcription	K562	blood

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