Variant report

Variant	esv13742
Chromosome Location	chr20:26298168-26319513
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23852729..23853229-chr20:26319433..26319936,2	MCF-7	breast:
2	chr18:21530746..21532374-chr20:26317917..26320539,2	MCF-7	breast:
3	chr20:26319432..26319932-chr5:54763228..54764208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067113	chromatin interactions

Extended variants
information (count: 3671 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:3671 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528056671	chr20:26298168-26298169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371421240	chr20:26298175-26298176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200738968	chr20:26298182-26298183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372581340	chr20:26298197-26298198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550095314	chr20:26298201-26298202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149086222	chr20:26298220-26298221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146706933	chr20:26298223-26298224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147060553	chr20:26298234-26298235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114005039	chr20:26298235-26298236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115248956	chr20:26298241-26298242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116717062	chr20:26298248-26298249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143896773	chr20:26298255-26298256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141874539	chr20:26298257-26298258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113787400	chr20:26298278-26298279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150970262	chr20:26298282-26298283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201498639	chr20:26298304-26298305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111437974	chr20:26298306-26298307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62198458	chr20:26298320-26298321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62198459	chr20:26298328-26298329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535450194	chr20:26298333-26298334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201996357	chr20:26298337-26298338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541247111	chr20:26298340-26298341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77153509	chr20:26298341-26298342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200866012	chr20:26298342-26298343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs202050973	chr20:26298345-26298346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79987790	chr20:26298356-26298357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62200060	chr20:26298358-26298359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77536591	chr20:26298359-26298360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200245804	chr20:26298360-26298361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111732173	chr20:26298363-26298364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10221983	chr20:26298377-26298378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200372624	chr20:26298378-26298379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201370837	chr20:26298382-26298383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376678173	chr20:26298390-26298391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73609011	chr20:26298391-26298392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199583331	chr20:26298392-26298393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200236333	chr20:26298395-26298396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73609012	chr20:26298397-26298398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73609013	chr20:26298402-26298403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73609014	chr20:26298413-26298414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565790180	chr20:26298419-26298420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189008811	chr20:26298453-26298454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201591701	chr20:26298456-26298457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193268570	chr20:26298457-26298458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185444152	chr20:26298458-26298459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113220430	chr20:26298469-26298470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554378598	chr20:26298487-26298488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181548694	chr20:26298489-26298490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577357084	chr20:26298492-26298493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150152001	chr20:26298507-26298508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26293800-26300000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr20:26293800-26300000	Weak transcription	Colon Smooth Muscle	Colon
3	chr20:26293800-26300000	Weak transcription	Fetal Kidney	kidney
4	chr20:26293800-26300000	Weak transcription	Left Ventricle	heart
5	chr20:26293800-26304400	Weak transcription	NH-A	brain
6	chr20:26293800-26309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:26294000-26300000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr20:26297000-26301200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:26297800-26298200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr20:26297800-26298200	ZNF genes & repeats	K562	blood
11	chr20:26298200-26309600	Weak transcription	K562	blood
12	chr20:26299600-26300000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr20:26299800-26300400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr20:26299800-26300400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr20:26300000-26300200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
16	chr20:26300000-26300200	ZNF genes & repeats	Fetal Kidney	kidney
17	chr20:26300000-26300200	ZNF genes & repeats	Left Ventricle	heart
18	chr20:26300000-26300400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr20:26300000-26300400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr20:26300000-26300400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr20:26300000-26300400	ZNF genes & repeats	Liver	Liver
23	chr20:26300000-26300400	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr20:26300000-26300400	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr20:26300000-26300400	Active TSS	Psoas Muscle	Psoas
26	chr20:26300000-26301400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr20:26300200-26301000	Weak transcription	Fetal Kidney	kidney
28	chr20:26300400-26302600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:26301200-26301400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:26301200-26301400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr20:26301200-26301400	ZNF genes & repeats	Fetal Kidney	kidney
32	chr20:26301200-26301600	ZNF genes & repeats	HUVEC	blood vessel
33	chr20:26301400-26302600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr20:26302400-26302600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:26302400-26303000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:26302600-26303000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
38	chr20:26302600-26303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr20:26302600-26303000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
40	chr20:26302600-26303000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr20:26302600-26303000	ZNF genes & repeats	Brain Substantia Nigra	brain
42	chr20:26302600-26303000	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr20:26302800-26303000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
44	chr20:26303000-26304000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr20:26303000-26306800	Weak transcription	Brain Substantia Nigra	brain
46	chr20:26303000-26308800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr20:26303000-26308800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:26303000-26308800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr20:26303000-26308800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr20:26303000-26308800	Weak transcription	Colonic Mucosa	Colon

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