Variant report

Variant	esv3446322
Chromosome Location	chr20:26283752-26319569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000067113	chromatin interactions

Extended variants
information (count: 5207 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:5207 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200140020	chr20:26283753-26283754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146699897	chr20:26283762-26283763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201491386	chr20:26283781-26283782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188194527	chr20:26283787-26283788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544754896	chr20:26283809-26283810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561360519	chr20:26283857-26283858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529896835	chr20:26283862-26283863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528890447	chr20:26283868-26283869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202109423	chr20:26283875-26283876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192479134	chr20:26283879-26283880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550547821	chr20:26283884-26283885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569220525	chr20:26283885-26283886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532450041	chr20:26283897-26283898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552023162	chr20:26283928-26283929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6132957	chr20:26283945-26283946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201536555	chr20:26283949-26283950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531191900	chr20:26283975-26283976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149878866	chr20:26283984-26283985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199548952	chr20:26283998-26283999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551630751	chr20:26284017-26284018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182836104	chr20:26284047-26284048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186609750	chr20:26284048-26284049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533611422	chr20:26284051-26284052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28832414	chr20:26284057-26284058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553547655	chr20:26284081-26284082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200630074	chr20:26284083-26284084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566924504	chr20:26284104-26284105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539347399	chr20:26284117-26284118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559280279	chr20:26284124-26284125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6115621	chr20:26284134-26284135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4813609	chr20:26284139-26284140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377746097	chr20:26284144-26284145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201522361	chr20:26284150-26284151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199616275	chr20:26284152-26284153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200462670	chr20:26284164-26284165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554959014	chr20:26284188-26284189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201597143	chr20:26284205-26284206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535013331	chr20:26284213-26284214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574883136	chr20:26284265-26284266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540331326	chr20:26284312-26284313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200792744	chr20:26284337-26284338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201964069	chr20:26284359-26284360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369427383	chr20:26284395-26284396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533954417	chr20:26284417-26284418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199887117	chr20:26284430-26284431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200101611	chr20:26284567-26284568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201227508	chr20:26284614-26284615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201306675	chr20:26284619-26284620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201766145	chr20:26284634-26284635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377681988	chr20:26284655-26284656	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:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:26279400-26285400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:26280800-26285600	Weak transcription	Dnd41	blood
3	chr20:26281000-26285400	Weak transcription	HUVEC	blood vessel
4	chr20:26285000-26285400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr20:26285200-26285600	Weak transcription	HepG2	liver
6	chr20:26285400-26285600	Weak transcription	K562	blood
7	chr20:26285400-26286200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr20:26285400-26286200	ZNF genes & repeats	HUVEC	blood vessel
9	chr20:26285400-26287600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr20:26285600-26286000	ZNF genes & repeats	HepG2	liver
11	chr20:26285600-26289000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr20:26285600-26290800	Enhancers	Dnd41	blood
13	chr20:26285800-26286200	Active TSS	Hela-S3	cervix
14	chr20:26285800-26286200	ZNF genes & repeats	K562	blood
15	chr20:26285800-26286200	ZNF genes & repeats	NH-A	brain
16	chr20:26285800-26286200	ZNF genes & repeats	Osteobl	bone
17	chr20:26286200-26287400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr20:26286200-26287600	Weak transcription	HUVEC	blood vessel
19	chr20:26286200-26287600	Weak transcription	NH-A	brain
20	chr20:26286200-26287800	Weak transcription	Osteobl	bone
21	chr20:26286200-26288800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr20:26286200-26293200	Weak transcription	K562	blood
23	chr20:26287400-26288000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr20:26287400-26288400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr20:26287400-26288600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr20:26287400-26289000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr20:26287600-26288000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr20:26287600-26288200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr20:26287600-26288200	ZNF genes & repeats	NH-A	brain
30	chr20:26287600-26288400	ZNF genes & repeats	HUVEC	blood vessel
31	chr20:26287600-26288800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr20:26287800-26288000	ZNF genes & repeats	Osteobl	bone
33	chr20:26287800-26288200	ZNF genes & repeats	GM12878-XiMat	blood
34	chr20:26287800-26288800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr20:26287800-26290000	ZNF genes & repeats	HepG2	liver
36	chr20:26288000-26288200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr20:26288000-26290600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:26288200-26293200	Weak transcription	NH-A	brain
39	chr20:26288400-26289600	Weak transcription	HUVEC	blood vessel
40	chr20:26288600-26290000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr20:26288800-26289400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr20:26288800-26289400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr20:26288800-26289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr20:26289000-26289400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr20:26289000-26289400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr20:26289400-26289600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr20:26289400-26289600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr20:26289400-26290000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr20:26289400-26290600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr20:26289400-26290600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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