Variant report

Variant	esv3412338
Chromosome Location	chr20:1689620-1689920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr20:1689259-1689736	HL-60	blood:	n/a	chr20:1689487-1689494

Variant related genes	Relation type
SIRPB3P	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2077100	chr20:1689621-1689622	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5839916	chr20:1689633-1689634	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566134122	chr20:1689634-1689635	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2317999	chr20:1689636-1689637	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs2318000	chr20:1689639-1689640	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2318001	chr20:1689640-1689641	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199662832	chr20:1689641-1689642	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs538808547	chr20:1689663-1689664	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553648652	chr20:1689679-1689680	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs386811644	chr20:1689766-1689767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs588555	chr20:1689767-1689768	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554910393	chr20:1689777-1689778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6111083	chr20:1689802-1689803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35061984	chr20:1689827-1689828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576494436	chr20:1689856-1689857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544110	chr20:1689858-1689859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138109426	chr20:1689859-1689860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142599236	chr20:1689869-1689870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2318003	chr20:1689872-1689873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs735994	chr20:1689898-1689899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530241770	chr20:1689905-1689906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190973342	chr20:1689916-1689917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1688200-1689800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr20:1688200-1689800	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr20:1688200-1689800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr20:1688200-1690000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr20:1688200-1690000	Enhancers	Fetal Thymus	thymus
6	chr20:1688200-1690200	Enhancers	Primary hematopoietic stem cells	blood
7	chr20:1688200-1690200	Enhancers	Thymus	Thymus
8	chr20:1688800-1693000	Weak transcription	HMEC	breast
9	chr20:1689200-1690200	Enhancers	Primary T cells from cord blood	blood
10	chr20:1689400-1698200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr20:1689600-1693000	Weak transcription	K562	blood

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