Variant report

Variant	esv21397
Chromosome Location	chr20:1238750-1241117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1227236..1231835-chr20:1234457..1238851,4	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527313756	chr20:1238760-1238761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546964170	chr20:1238842-1238843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187494290	chr20:1238844-1238845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191109478	chr20:1238852-1238853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570084012	chr20:1238861-1238862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142721096	chr20:1238864-1238865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552412771	chr20:1238872-1238873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116043617	chr20:1238880-1238881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147355278	chr20:1238886-1238887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544290417	chr20:1238906-1238907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75831123	chr20:1238920-1238921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111805088	chr20:1238942-1238943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555085186	chr20:1238952-1238953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79707373	chr20:1238978-1238979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76064377	chr20:1238983-1238984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1294732	chr20:1238988-1238989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1294734	chr20:1238999-1239000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368972541	chr20:1239005-1239006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs805566	chr20:1239032-1239033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs805572	chr20:1239041-1239042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs805564	chr20:1239046-1239047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs809289	chr20:1239047-1239048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202175684	chr20:1239048-1239049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs805567	chr20:1239051-1239052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1294735	chr20:1239095-1239096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376577860	chr20:1239104-1239105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35494868	chr20:1239109-1239110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574822756	chr20:1239111-1239112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78184736	chr20:1239131-1239132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534213559	chr20:1239133-1239134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62187486	chr20:1239194-1239195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373876279	chr20:1239230-1239231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554232004	chr20:1239234-1239235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560993678	chr20:1239251-1239252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs805568	chr20:1239257-1239258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368825487	chr20:1239284-1239285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372942184	chr20:1239293-1239294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs813124	chr20:1239298-1239299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371623263	chr20:1239300-1239301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577277440	chr20:1239303-1239304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs805569	chr20:1239314-1239315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62187487	chr20:1239320-1239321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs805565	chr20:1239323-1239324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376276604	chr20:1239347-1239348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370655145	chr20:1239356-1239357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374049178	chr20:1239361-1239362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367883356	chr20:1239383-1239384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370448794	chr20:1239386-1239387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370478845	chr20:1239410-1239411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79565242	chr20:1239419-1239420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1238000-1239000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr20:1239000-1239800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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