Variant report

Variant	esv3415039
Chromosome Location	chr20:26257652-26271350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1884 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79433667	chr20:26257656-26257657	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs36132857	chr20:26257668-26257669	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs78635879	chr20:26257669-26257670	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs6115593	chr20:26257676-26257677	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs369600139	chr20:26257677-26257678	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs186237005	chr20:26257696-26257697	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs533574856	chr20:26257709-26257710	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs189564757	chr20:26257728-26257729	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs563993344	chr20:26257731-26257732	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs529597235	chr20:26257733-26257734	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs200304279	chr20:26257735-26257736	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs79733470	chr20:26257749-26257750	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs549138838	chr20:26257761-26257762	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs199698836	chr20:26257789-26257790	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs529592218	chr20:26257790-26257791	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs200776703	chr20:26257810-26257811	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566064080	chr20:26257828-26257829	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180805081	chr20:26257829-26257830	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6051253	chr20:26257842-26257843	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs186423814	chr20:26257857-26257858	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201570342	chr20:26257871-26257872	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536871830	chr20:26257894-26257895	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187556729	chr20:26257911-26257912	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541798703	chr20:26257925-26257926	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377688054	chr20:26257926-26257927	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551280499	chr20:26257948-26257949	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569417470	chr20:26257949-26257950	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199793530	chr20:26257950-26257951	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6107164	chr20:26257972-26257973	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73111904	chr20:26257981-26257982	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73111906	chr20:26257998-26257999	Weak transcription ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536522524	chr20:26258006-26258007	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552739210	chr20:26258023-26258024	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148908780	chr20:26258040-26258041	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538215209	chr20:26258046-26258047	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558687701	chr20:26258056-26258057	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142591777	chr20:26258078-26258079	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544064636	chr20:26258095-26258096	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563851564	chr20:26258096-26258097	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574434268	chr20:26258148-26258149	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543297800	chr20:26258158-26258159	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559757457	chr20:26258159-26258160	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375001337	chr20:26258172-26258173	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551512730	chr20:26258182-26258183	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34719002	chr20:26258187-26258188	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs551461715	chr20:26258199-26258200	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565057136	chr20:26258202-26258203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150986971	chr20:26258220-26258221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79859288	chr20:26258231-26258232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375796400	chr20:26258232-26258233	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:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26257000-26258200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:26257200-26257800	Active TSS	Osteobl	bone
3	chr20:26257200-26258000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr20:26257200-26258200	ZNF genes & repeats	Fetal Stomach	stomach
5	chr20:26257400-26257800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:26257400-26257800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:26257400-26257800	Active TSS	Fetal Brain Female	brain
9	chr20:26257400-26257800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr20:26257400-26258000	Active TSS	Brain Anterior Caudate	brain
11	chr20:26257400-26259800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:26257800-26258000	Enhancers	Fetal Heart	heart
13	chr20:26257800-26258200	Enhancers	Fetal Brain Male	brain
14	chr20:26257800-26259000	Weak transcription	Osteobl	bone
15	chr20:26258000-26259200	Weak transcription	Fetal Heart	heart
16	chr20:26258400-26263000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr20:26258600-26258800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr20:26258600-26258800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr20:26258600-26259800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr20:26258800-26259200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr20:26259200-26259600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr20:26259200-26260200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:26259200-26260400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr20:26259200-26260400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
25	chr20:26259200-26260400	ZNF genes & repeats	Fetal Heart	heart
26	chr20:26259200-26260400	Active TSS	Psoas Muscle	Psoas
27	chr20:26259200-26260600	ZNF genes & repeats	Dnd41	blood
28	chr20:26259200-26262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr20:26259200-26262800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr20:26259400-26262600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
31	chr20:26259600-26259800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
32	chr20:26259600-26260400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr20:26259600-26260400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr20:26259600-26261000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:26259600-26262800	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr20:26259800-26260200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr20:26259800-26260200	ZNF genes & repeats	Colon Smooth Muscle	Colon
38	chr20:26259800-26260400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr20:26259800-26260400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
40	chr20:26259800-26260400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr20:26259800-26260400	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr20:26259800-26260400	ZNF genes & repeats	Liver	Liver
43	chr20:26259800-26260400	ZNF genes & repeats	Gastric	stomach
44	chr20:26259800-26260400	ZNF genes & repeats	NH-A	brain
45	chr20:26260000-26260200	ZNF genes & repeats	K562	blood
46	chr20:26260200-26260400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
47	chr20:26260200-26262200	Weak transcription	K562	blood
48	chr20:26260400-26260600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr20:26260400-26261200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr20:26260400-26261400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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