Variant report

Variant	nsv1063429
Chromosome Location	chr20:1679052-1706969
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	ATF1	chr20:1692944-1693222	K562	blood:	n/a	n/a
2	ATF2	chr20:1702796-1703222	GM12878	blood:	n/a	n/a
3	ATF2	chr20:1702740-1703371	GM12878	blood:	n/a	n/a
4	BATF	chr20:1702831-1703291	GM12878	blood:	n/a	n/a
5	BCL11A	chr20:1702831-1703251	GM12878	blood:	n/a	n/a
6	BCLAF1	chr20:1702414-1703353	GM12878	blood:	n/a	n/a
7	BHLHE40	chr20:1689014-1689073	K562	blood:	n/a	n/a
8	CEBPB	chr20:1692319-1692478	HepG2	liver:	n/a	chr20:1692419-1692430
9	CEBPB	chr20:1702615-1703194	H1-hESC	embryonic stem cell:	n/a	chr20:1702735-1702746
10	CEBPB	chr20:1702720-1702758	HepG2	liver:	n/a	chr20:1702735-1702746
11	CEBPB	chr20:1702968-1703196	GM12878	blood:	n/a	n/a
12	CEBPB	chr20:1702370-1703441	GM12878	blood:	n/a	chr20:1702735-1702746
13	CEBPB	chr20:1688821-1689152	K562	blood:	n/a	n/a
14	CEBPB	chr20:1692444-1692453	A549	lung:	n/a	n/a
15	CEBPB	chr20:1700871-1701156	HepG2	liver:	n/a	chr20:1700984-1700995
16	CEBPB	chr20:1692903-1693093	K562	blood:	n/a	n/a
17	CEBPB	chr20:1700855-1701084	A549	lung:	n/a	chr20:1700984-1700995
18	CEBPB	chr20:1688806-1689150	K562	blood:	n/a	n/a
19	CEBPD	chr20:1688784-1689157	K562	blood:	n/a	n/a
20	CEBPD	chr20:1688714-1689148	K562	blood:	n/a	n/a
21	CHD1	chr20:1702745-1702984	GM12878	blood:	n/a	n/a
22	CREB1	chr20:1702727-1703328	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr20:1702712-1703349	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr20:1703420-1703570	GM12874	blood:	n/a	n/a
25	CTCF	chr20:1698760-1698910	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr20:1702463-1702522	GM12891	blood:	n/a	n/a
27	CTCF	chr20:1692960-1693110	HEK293	kidney:	n/a	n/a
28	CTCF	chr20:1693121-1693171	LNCaP	prostate:	n/a	n/a
29	CTCF	chr20:1692760-1692910	HepG2	liver:	n/a	n/a
30	CTCF	chr20:1703399-1703562	HepG2	liver:	n/a	n/a
31	CTCF	chr20:1703460-1703610	GM12874	blood:	n/a	n/a
32	CTCF	chr20:1703520-1703670	A549	lung:	n/a	n/a
33	CTCF	chr20:1703444-1703542	GM12878	blood:	n/a	n/a
34	E2F4	chr20:1699686-1700032	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr20:1702766-1703260	GM12878	blood:	n/a	chr20:1703055-1703066
36	EBF1	chr20:1702297-1702681	GM12878	blood:	n/a	n/a
37	EBF1	chr20:1702870-1703224	GM12878	blood:	n/a	chr20:1703055-1703066
38	EBF1	chr20:1702898-1703239	GM12878	blood:	n/a	chr20:1703055-1703066
39	EBF1	chr20:1702472-1702672	GM12878	blood:	n/a	n/a
40	ELF1	chr20:1692237-1692583	GM12878	blood:	n/a	n/a
41	EP300	chr20:1702442-1703239	GM12878	blood:	n/a	n/a
42	EP300	chr20:1683155-1683168	HepG2	liver:	n/a	n/a
43	EP300	chr20:1702880-1703387	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr20:1702731-1703339	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr20:1688765-1689072	K562	blood:	n/a	chr20:1688946-1688955
46	EP300	chr20:1702864-1703369	GM12878	blood:	n/a	n/a
47	ESRRA	chr20:1701550-1703959	GM12878	blood:	n/a	n/a
48	FAM48A	chr20:1686950-1687019	GM12878	blood:	n/a	n/a
49	FOS	chr20:1700906-1701223	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr20:1699588-1700088	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1544908..1546600-chr20:1698607..1700315,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRPG-4	chr20:1703157-1703311	NONHSAT078128
2	lnc-SIRPG-4	chr20:1702011-1702188	NONHSAT078128

Variant related genes	Relation type
SIRPB3P	TF binding region
ENSG00000234282	TF binding region

Extended variants
information (count: 1214 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1214 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202483	chr20:1679099-1679100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570203575	chr20:1679115-1679116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531012982	chr20:1679132-1679133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552414822	chr20:1679180-1679181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570848441	chr20:1679189-1679190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538243095	chr20:1679202-1679203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75142099	chr20:1679203-1679204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182685544	chr20:1679206-1679207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202482	chr20:1679218-1679219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111800784	chr20:1679277-1679278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202481	chr20:1679289-1679290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs370629129	chr20:1679308-1679309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373352057	chr20:1679414-1679415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202480	chr20:1679488-1679489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558889907	chr20:1679512-1679513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143874391	chr20:1679513-1679514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370251563	chr20:1679521-1679522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202479	chr20:1679534-1679535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559665489	chr20:1679558-1679559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574763004	chr20:1679561-1679562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542263327	chr20:1679567-1679568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563642605	chr20:1679576-1679577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368458985	chr20:1679624-1679625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs66555635	chr20:1679690-1679691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4060588	chr20:1679728-1679729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58927810	chr20:1679730-1679731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71193925	chr20:1679732-1679733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112593038	chr20:1679784-1679785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185289401	chr20:1679801-1679802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202478	chr20:1679805-1679806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528793184	chr20:1679816-1679817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189998849	chr20:1679838-1679839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566683294	chr20:1679864-1679865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147244298	chr20:1679868-1679869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374163414	chr20:1679988-1679989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139667304	chr20:1679995-1679996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs5839915	chr20:1680048-1680049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397814515	chr20:1680056-1680057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201084316	chr20:1680057-1680058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201657736	chr20:1680058-1680059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200047785	chr20:1680059-1680060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537223827	chr20:1680076-1680077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183326847	chr20:1680095-1680096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1438102	chr20:1680100-1680101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6034436	chr20:1680109-1680110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11478091	chr20:1680110-1680111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398088210	chr20:1680112-1680113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188900545	chr20:1680149-1680150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552996821	chr20:1680170-1680171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577659774	chr20:1680189-1680190	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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1674600-1680000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr20:1678400-1681600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:1678400-1682000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr20:1678400-1682800	Weak transcription	Primary T cells from cord blood	blood
5	chr20:1678400-1688200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr20:1681200-1682200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr20:1681200-1682800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr20:1681400-1681600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr20:1681400-1682000	Enhancers	Hela-S3	cervix
10	chr20:1681400-1682400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr20:1681400-1683800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr20:1681600-1681800	Enhancers	Primary hematopoietic stem cells	blood
13	chr20:1681600-1682000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr20:1681600-1682400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:1681800-1682400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr20:1682200-1682400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr20:1682200-1683800	Enhancers	Dnd41	blood
18	chr20:1682600-1683800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr20:1682800-1683400	Enhancers	GM12878-XiMat	blood
20	chr20:1682800-1683600	Enhancers	Primary hematopoietic stem cells	blood
21	chr20:1682800-1683800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr20:1682800-1683800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr20:1682800-1683800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:1682800-1683800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr20:1682800-1684000	Enhancers	Primary T cells from cord blood	blood
26	chr20:1683000-1683400	Enhancers	Thymus	Thymus
27	chr20:1683400-1688200	Weak transcription	Thymus	Thymus
28	chr20:1683600-1688200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr20:1683800-1684000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:1683800-1684400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr20:1683800-1688000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr20:1683800-1688600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr20:1684400-1688000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr20:1687600-1687800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr20:1687800-1688400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr20:1687800-1688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:1688000-1688200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr20:1688000-1688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr20:1688000-1688800	Enhancers	Primary T cells from cord blood	blood
40	chr20:1688000-1689600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr20:1688200-1688800	Enhancers	HMEC	breast
42	chr20:1688200-1689200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr20:1688200-1689200	Enhancers	NHEK	skin
44	chr20:1688200-1689400	Enhancers	Primary B cells from cord blood	blood
45	chr20:1688200-1689400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr20:1688200-1689400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr20:1688200-1689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr20:1688200-1689600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr20:1688200-1689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr20:1688200-1689600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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