Variant report

Variant	esv1793674
Chromosome Location	chr20:1685595-1704114
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	chr20:1702740-1703371	GM12878	blood:	n/a	n/a
3	ATF2	chr20:1702796-1703222	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	chr20:1702968-1703196	GM12878	blood:	n/a	n/a
9	CEBPB	chr20:1688806-1689150	K562	blood:	n/a	n/a
10	CEBPB	chr20:1692444-1692453	A549	lung:	n/a	n/a
11	CEBPB	chr20:1702370-1703441	GM12878	blood:	n/a	chr20:1702735-1702746
12	CEBPB	chr20:1692319-1692478	HepG2	liver:	n/a	chr20:1692419-1692430
13	CEBPB	chr20:1702720-1702758	HepG2	liver:	n/a	chr20:1702735-1702746
14	CEBPB	chr20:1700871-1701156	HepG2	liver:	n/a	chr20:1700984-1700995
15	CEBPB	chr20:1702615-1703194	H1-hESC	embryonic stem cell:	n/a	chr20:1702735-1702746
16	CEBPB	chr20:1700855-1701084	A549	lung:	n/a	chr20:1700984-1700995
17	CEBPB	chr20:1688821-1689152	K562	blood:	n/a	n/a
18	CEBPB	chr20:1692903-1693093	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	chr20:1703460-1703610	GM12874	blood:	n/a	n/a
25	CTCF	chr20:1703420-1703570	GM12874	blood:	n/a	n/a
26	CTCF	chr20:1692960-1693110	HEK293	kidney:	n/a	n/a
27	CTCF	chr20:1703444-1703542	GM12878	blood:	n/a	n/a
28	CTCF	chr20:1698760-1698910	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr20:1703520-1703670	A549	lung:	n/a	n/a
30	CTCF	chr20:1703399-1703562	HepG2	liver:	n/a	n/a
31	CTCF	chr20:1702463-1702522	GM12891	blood:	n/a	n/a
32	CTCF	chr20:1692760-1692910	HepG2	liver:	n/a	n/a
33	CTCF	chr20:1693121-1693171	LNCaP	prostate:	n/a	n/a
34	E2F4	chr20:1699686-1700032	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr20:1702898-1703239	GM12878	blood:	n/a	chr20:1703055-1703066
36	EBF1	chr20:1702870-1703224	GM12878	blood:	n/a	chr20:1703055-1703066
37	EBF1	chr20:1702297-1702681	GM12878	blood:	n/a	n/a
38	EBF1	chr20:1702472-1702672	GM12878	blood:	n/a	n/a
39	EBF1	chr20:1702766-1703260	GM12878	blood:	n/a	chr20:1703055-1703066
40	ELF1	chr20:1692237-1692583	GM12878	blood:	n/a	n/a
41	EP300	chr20:1702864-1703369	GM12878	blood:	n/a	n/a
42	EP300	chr20:1702442-1703239	GM12878	blood:	n/a	n/a
43	EP300	chr20:1702731-1703339	H1-hESC	embryonic stem cell:	n/a	n/a
44	EP300	chr20:1688765-1689072	K562	blood:	n/a	chr20:1688946-1688955
45	EP300	chr20:1702880-1703387	H1-hESC	embryonic stem cell:	n/a	n/a
46	ESRRA	chr20:1701550-1703959	GM12878	blood:	n/a	n/a
47	FAM48A	chr20:1686950-1687019	GM12878	blood:	n/a	n/a
48	FOS	chr20:1699588-1700088	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr20:1703002-1703173	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr20:1699597-1700190	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	chr20:1702011-1702188	NONHSAT078128
2	lnc-SIRPG-4	chr20:1703157-1703311	NONHSAT078128

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

Extended variants
information (count: 794 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563513125	chr20:1685612-1685613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540558417	chr20:1685633-1685634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs648051	chr20:1685647-1685648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564663853	chr20:1685649-1685650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113273207	chr20:1685652-1685653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547104767	chr20:1685708-1685709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565752163	chr20:1685719-1685720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189459711	chr20:1685724-1685725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11905288	chr20:1685728-1685729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs569827401	chr20:1685811-1685812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532590634	chr20:1685850-1685851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143929377	chr20:1685899-1685900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532372072	chr20:1685922-1685923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570682956	chr20:1686040-1686041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115486528	chr20:1686043-1686044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553060231	chr20:1686044-1686045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574800598	chr20:1686077-1686078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376696126	chr20:1686088-1686089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373937390	chr20:1686107-1686108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148617538	chr20:1686134-1686135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193091678	chr20:1686137-1686138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546033059	chr20:1686180-1686181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142050209	chr20:1686207-1686208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151335298	chr20:1686208-1686209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370210670	chr20:1686237-1686238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11905339	chr20:1686262-1686263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559058747	chr20:1686275-1686276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78405292	chr20:1686297-1686298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529715513	chr20:1686324-1686325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140601761	chr20:1686329-1686330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185836190	chr20:1686335-1686336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530703284	chr20:1686346-1686347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145611119	chr20:1686390-1686391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189001169	chr20:1686407-1686408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6135733	chr20:1686415-1686416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2247997	chr20:1686429-1686430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528431509	chr20:1686446-1686447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546879214	chr20:1686448-1686449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564557564	chr20:1686457-1686458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147721910	chr20:1686531-1686532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142498880	chr20:1686532-1686533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557029970	chr20:1686582-1686583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575359861	chr20:1686586-1686587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6105579	chr20:1686675-1686676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528256	chr20:1686693-1686694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs6043905	chr20:1686701-1686702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113221009	chr20:1686739-1686740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148937378	chr20:1686745-1686746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13041433	chr20:1686748-1686749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143652256	chr20:1686793-1686794	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:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1678400-1688200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr20:1683400-1688200	Weak transcription	Thymus	Thymus
3	chr20:1683600-1688200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr20:1683800-1688000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr20:1683800-1688600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr20:1684400-1688000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr20:1687600-1687800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr20:1687800-1688400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:1687800-1688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:1688000-1688200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:1688000-1688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:1688000-1688800	Enhancers	Primary T cells from cord blood	blood
13	chr20:1688000-1689600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr20:1688200-1688800	Enhancers	HMEC	breast
15	chr20:1688200-1689200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr20:1688200-1689200	Enhancers	NHEK	skin
17	chr20:1688200-1689400	Enhancers	Primary B cells from cord blood	blood
18	chr20:1688200-1689400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr20:1688200-1689400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr20:1688200-1689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr20:1688200-1689600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr20:1688200-1689600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr20:1688200-1689600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr20:1688200-1689800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr20:1688200-1689800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr20:1688200-1689800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr20:1688200-1690000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr20:1688200-1690000	Enhancers	Fetal Thymus	thymus
29	chr20:1688200-1690200	Enhancers	Primary hematopoietic stem cells	blood
30	chr20:1688200-1690200	Enhancers	Thymus	Thymus
31	chr20:1688400-1688800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:1688400-1689000	Enhancers	Primary B cells from peripheral blood	blood
33	chr20:1688400-1689200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr20:1688400-1689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr20:1688600-1688800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:1688600-1688800	Enhancers	Dnd41	blood
37	chr20:1688600-1689000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr20:1688600-1689000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr20:1688600-1689200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr20:1688600-1689200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr20:1688600-1689400	Enhancers	GM12878-XiMat	blood
42	chr20:1688600-1689600	Enhancers	K562	blood
43	chr20:1688800-1689200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr20:1688800-1689600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:1688800-1693000	Weak transcription	HMEC	breast
46	chr20:1689000-1689200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr20:1689000-1689200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr20:1689000-1689200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr20:1689200-1689600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr20:1689200-1689600	Enhancers	Monocytes-CD14+_RO01746	blood

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