Variant report

Variant	nsv962553
Chromosome Location	chr20:1551250-1553536
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	CTCF	chr20:1552670-1552733	GM10266	blood:	n/a	n/a
2	ZKSCAN1	chr20:1551824-1552162	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
SIRPB1	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550508722	chr20:1551251-1551252	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550631726	chr20:1551292-1551293	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572001878	chr20:1551310-1551311	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138844422	chr20:1551338-1551339	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557511105	chr20:1551355-1551356	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566560584	chr20:1551371-1551372	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117864321	chr20:1551388-1551389	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555102570	chr20:1551397-1551398	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554505205	chr20:1551400-1551401	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184941870	chr20:1551434-1551435	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368520579	chr20:1551446-1551447	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2254458	chr20:1551485-1551486	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs141972559	chr20:1551486-1551487	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545374994	chr20:1551559-1551560	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41297640	chr20:1551564-1551565	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527735821	chr20:1551580-1551581	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374159183	chr20:1551616-1551617	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147405398	chr20:1551621-1551622	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372469385	chr20:1551628-1551629	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138084629	chr20:1551638-1551639	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201825861	chr20:1551649-1551650	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202077981	chr20:1551654-1551655	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143614046	chr20:1551655-1551656	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201191774	chr20:1551660-1551661	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531923164	chr20:1551677-1551678	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550434293	chr20:1551681-1551682	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7352199	chr20:1551779-1551780	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546927864	chr20:1551814-1551815	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138772788	chr20:1551815-1551816	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566728012	chr20:1551822-1551823	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186306026	chr20:1551836-1551837	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551311251	chr20:1551848-1551849	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149319168	chr20:1551899-1551900	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533851329	chr20:1551930-1551931	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369544439	chr20:1551966-1551967	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6079627	chr20:1551967-1551968	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189969407	chr20:1552000-1552001	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144568395	chr20:1552011-1552012	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555979360	chr20:1552087-1552088	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376422309	chr20:1552092-1552093	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544976737	chr20:1552129-1552130	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538933482	chr20:1552168-1552169	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370509930	chr20:1552245-1552246	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554092713	chr20:1552253-1552254	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148454177	chr20:1552267-1552268	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141714945	chr20:1552324-1552325	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199938839	chr20:1552332-1552333	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181352082	chr20:1552343-1552344	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201016187	chr20:1552349-1552350	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200711758	chr20:1552350-1552351	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1537000-1551600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr20:1543800-1568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr20:1544600-1569000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr20:1546600-1551400	Weak transcription	Spleen	Spleen
5	chr20:1548200-1551400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr20:1548800-1552400	Strong transcription	Primary T cells from cord blood	blood
7	chr20:1550000-1568200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr20:1550200-1551400	Weak transcription	Esophagus	oesophagus
9	chr20:1550600-1552400	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:1550600-1552400	Genic enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:1550800-1551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:1550800-1552200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
13	chr20:1551200-1552200	Weak transcription	Hela-S3	cervix
14	chr20:1551400-1552600	Strong transcription	Spleen	Spleen
15	chr20:1551400-1552800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr20:1551600-1552400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr20:1551800-1552000	Enhancers	Esophagus	oesophagus
18	chr20:1552200-1553000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr20:1552400-1553000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr20:1552400-1553400	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr20:1552400-1558000	Weak transcription	Primary T cells from cord blood	blood
22	chr20:1552400-1568000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr20:1552600-1569000	Weak transcription	Spleen	Spleen
24	chr20:1552800-1558400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr20:1553000-1556800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr20:1553000-1556800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr20:1553400-1553600	Weak transcription	Primary monocytes fromperipheralblood	blood

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