Variant report

Variant	esv1798282
Chromosome Location	chr20:907426-918584
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	chr20:899077..901728-chr20:908752..911161,2	K562	blood:
2	chr20:914281..915061-chr3:49059512..49060483,2	NB4	blood:

Variant related genes	Relation type
ENSG00000178149	chromatin interactions
ENSG00000178057	chromatin interactions

Extended variants
information (count: 455 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7265788	chr20:907426-907427	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146085521	chr20:907441-907442	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555899164	chr20:907444-907445	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565249969	chr20:907449-907450	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530996302	chr20:907473-907474	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6118247	chr20:907507-907508	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544434579	chr20:907519-907520	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368822900	chr20:907596-907597	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376456764	chr20:907638-907639	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7267799	chr20:907650-907651	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7263171	chr20:907655-907656	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs377213969	chr20:907657-907658	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73602188	chr20:907664-907665	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532561578	chr20:907680-907681	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58642669	chr20:907684-907685	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112196928	chr20:907685-907686	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538034791	chr20:907719-907720	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370253920	chr20:907834-907835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149355345	chr20:907856-907857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568252546	chr20:907890-907891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533603112	chr20:907899-907900	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117568403	chr20:907914-907915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576726817	chr20:907952-907953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545431046	chr20:908079-908080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558806306	chr20:908106-908107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373716884	chr20:908107-908108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188309843	chr20:908187-908188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73602189	chr20:908191-908192	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148691553	chr20:908204-908205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540341400	chr20:908259-908260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144473895	chr20:908268-908269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532528178	chr20:908281-908282	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562429343	chr20:908330-908331	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116905959	chr20:908331-908332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569162063	chr20:908350-908351	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556827645	chr20:908351-908352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531595234	chr20:908366-908367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117250515	chr20:908380-908381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367743630	chr20:908384-908385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568215915	chr20:908419-908420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6140638	chr20:908475-908476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113700913	chr20:908490-908491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547157957	chr20:908666-908667	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570558031	chr20:908667-908668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375571568	chr20:908685-908686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555782938	chr20:908696-908697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193202028	chr20:908714-908715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184717857	chr20:908733-908734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576687242	chr20:908741-908742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139661731	chr20:908791-908792	ZNF genes & repeats 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
small cell lung cancer	20016488	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
small cell lung cancer	17426248	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:897400-954200	Weak transcription	Right Atrium	heart
2	chr20:904800-907600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr20:904800-907600	Enhancers	Adipose Nuclei	Adipose
4	chr20:906000-913200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:906600-907800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr20:906800-907600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr20:910400-910800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr20:912600-913200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr20:913200-914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr20:914000-914400	Enhancers	Duodenum Mucosa	Duodenum
11	chr20:914000-914400	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr20:914000-914400	Enhancers	Stomach Mucosa	stomach
13	chr20:914800-915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr20:915200-924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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