Variant report

Variant	esv3489049
Chromosome Location	chr20:1552352-1557850
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	CEBPB	chr20:1557320-1557574	A549	lung:	n/a	chr20:1557460-1557471
2	CEBPB	chr20:1557313-1557606	Hela-S3	cervix:	n/a	chr20:1557460-1557471
3	CEBPB	chr20:1557318-1557553	HepG2	liver:	n/a	chr20:1557460-1557471
4	CTCF	chr20:1556774-1556880	NHEK	skin:	n/a	n/a
5	CTCF	chr20:1552670-1552733	GM10266	blood:	n/a	n/a
6	FOS	chr20:1557393-1557685	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr20:1556802-1556896	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr20:1557387-1557630	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr20:1557388-1557599	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr20:1557406-1557588	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SIRPB1	TF binding region

Extended variants
information (count: 154 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374927836	chr20:1552352-1552353	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371715786	chr20:1552353-1552354	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111658454	chr20:1552355-1552356	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147171272	chr20:1552360-1552361	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144175019	chr20:1552368-1552369	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148690008	chr20:1552369-1552370	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565483001	chr20:1552389-1552390	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142083473	chr20:1552399-1552400	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369061568	chr20:1552410-1552411	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386811626	chr20:1552423-1552424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560065824	chr20:1552424-1552425	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386811627	chr20:1552430-1552431	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144028465	chr20:1552432-1552433	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146852997	chr20:1552451-1552452	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16995332	chr20:1552457-1552458	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs61731659	chr20:1552464-1552465	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs201202573	chr20:1552475-1552476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549516216	chr20:1552489-1552490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28694393	chr20:1552502-1552503	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145431656	chr20:1552519-1552520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149215208	chr20:1552520-1552521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140374707	chr20:1552528-1552529	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371319948	chr20:1552529-1552530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147864161	chr20:1552554-1552555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141668681	chr20:1552578-1552579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200471530	chr20:1552587-1552588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61733947	chr20:1552591-1552592	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111742423	chr20:1552601-1552602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543944594	chr20:1552607-1552608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186440949	chr20:1552609-1552610	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369780504	chr20:1552610-1552611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577389972	chr20:1552614-1552615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541639858	chr20:1552619-1552620	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113675259	chr20:1552623-1552624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559780117	chr20:1552633-1552634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386811628	chr20:1552646-1552647	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150138053	chr20:1552647-1552648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77462482	chr20:1552649-1552650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373681327	chr20:1552650-1552651	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149312459	chr20:1552652-1552653	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139432093	chr20:1552656-1552657	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376797875	chr20:1552658-1552659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150061145	chr20:1552659-1552660	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200444242	chr20:1552686-1552687	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs373933434	chr20:1552713-1552714	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547613618	chr20:1552715-1552716	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377547801	chr20:1552725-1552726	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536555659	chr20:1552745-1552746	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145382629	chr20:1552769-1552770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576522386	chr20:1552788-1552789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1543800-1568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr20:1544600-1569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr20:1548800-1552400	Strong transcription	Primary T cells from cord blood	blood
4	chr20:1550000-1568200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr20:1550600-1552400	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:1550600-1552400	Genic enhancers	Monocytes-CD14+_RO01746	blood
7	chr20:1551400-1552600	Strong transcription	Spleen	Spleen
8	chr20:1551400-1552800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:1551600-1552400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr20:1552200-1553000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr20:1552400-1553000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr20:1552400-1553400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr20:1552400-1558000	Weak transcription	Primary T cells from cord blood	blood
14	chr20:1552400-1568000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr20:1552600-1569000	Weak transcription	Spleen	Spleen
16	chr20:1552800-1558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr20:1553000-1556800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr20:1553000-1556800	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr20:1553400-1553600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr20:1553600-1553800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr20:1553800-1556800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr20:1555600-1556800	Weak transcription	Hela-S3	cervix
23	chr20:1556800-1557200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:1556800-1557400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:1556800-1557600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr20:1556800-1557600	Enhancers	NHEK	skin
27	chr20:1556800-1558200	Enhancers	Hela-S3	cervix
28	chr20:1556800-1558600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr20:1556800-1560000	Genic enhancers	Primary monocytes fromperipheralblood	blood
30	chr20:1556800-1560000	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr20:1557000-1557400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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