Variant report

Variant	esv3454892
Chromosome Location	chr20:1585279-1617007
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:267)
CpG islands
(count:369)
Chromatin interactive
region (count:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr20:1614192-1614501	K562	blood:	n/a	n/a
2	ATF1	chr20:1597810-1598006	K562	blood:	n/a	n/a
3	ATF2	chr20:1607520-1607935	GM12878	blood:	n/a	n/a
4	ATF2	chr20:1607411-1607905	GM12878	blood:	n/a	n/a
5	ATF2	chr20:1612733-1613271	GM12878	blood:	n/a	n/a
6	ATF2	chr20:1612776-1613188	GM12878	blood:	n/a	n/a
7	ATF2	chr20:1603058-1603543	GM12878	blood:	n/a	n/a
8	BATF	chr20:1612731-1613238	GM12878	blood:	n/a	chr20:1612969-1612980
9	BATF	chr20:1612769-1613106	GM12878	blood:	n/a	chr20:1612969-1612980
10	BATF	chr20:1603174-1603482	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:1603100-1603339	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:1612833-1613216	GM12878	blood:	n/a	n/a
13	BCL11A	chr20:1603111-1603444	GM12878	blood:	n/a	n/a
14	BCL3	chr20:1612800-1613166	GM12878	blood:	n/a	n/a
15	BCL3	chr20:1603087-1603515	GM12878	blood:	n/a	n/a
16	BCLAF1	chr20:1612776-1613271	GM12878	blood:	n/a	n/a
17	BCLAF1	chr20:1612842-1613225	GM12878	blood:	n/a	n/a
18	BCLAF1	chr20:1603036-1603400	GM12878	blood:	n/a	n/a
19	BHLHE40	chr20:1603122-1603445	GM12878	blood:	n/a	n/a
20	BRCA1	chr20:1603218-1603418	GM12878	blood:	n/a	n/a
21	CEBPB	chr20:1614328-1614539	K562	blood:	n/a	n/a
22	CEBPB	chr20:1614302-1614559	HepG2	liver:	n/a	n/a
23	CEBPB	chr20:1600640-1600781	HepG2	liver:	n/a	chr20:1600734-1600745
24	CEBPB	chr20:1614267-1614583	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr20:1612280-1612459	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr20:1614237-1614620	K562	blood:	n/a	n/a
27	CEBPB	chr20:1612338-1612585	A549	lung:	n/a	n/a
28	CEBPB	chr20:1614321-1614518	IMR90	lung:	n/a	n/a
29	CEBPB	chr20:1596225-1596242	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:1614260-1614582	K562	blood:	n/a	n/a
31	CEBPB	chr20:1612709-1613324	GM12878	blood:	n/a	n/a
32	CEBPB	chr20:1612296-1612538	HepG2	liver:	n/a	n/a
33	CEBPB	chr20:1612231-1612611	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr20:1614183-1614694	HCT-116	colon:	n/a	n/a
35	CHD1	chr20:1601432-1601474	GM12878	blood:	n/a	n/a
36	CHD1	chr20:1600268-1600351	GM12878	blood:	n/a	n/a
37	CHD2	chr20:1603157-1603427	GM12878	blood:	n/a	n/a
38	CHD2	chr20:1600141-1600445	GM12878	blood:	n/a	n/a
39	CTCF	chr20:1599289-1599318	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr20:1593027-1593071	K562	blood:	n/a	n/a
41	CTCF	chr20:1599260-1599410	GM12870	blood:	n/a	n/a
42	CTCF	chr20:1589816-1589866	NHEK	skin:	n/a	n/a
43	CTCF	chr20:1599240-1599390	GM06990	blood:	n/a	n/a
44	CTCF	chr20:1595313-1595408	GM12878	blood:	n/a	n/a
45	CTCF	chr20:1599200-1599350	NB4	blood:	n/a	n/a
46	CTCF	chr20:1594081-1594153	LNCaP	prostate:	n/a	n/a
47	CTCF	chr20:1595316-1595438	HUVEC	blood vessel:	n/a	n/a
48	CUX1	chr20:1603041-1603432	GM12878	blood:	n/a	n/a
49	E2F4	chr20:1596569-1596779	MCF10A-Er-Src	breast:	n/a	n/a
50	EBF1	chr20:1608429-1608431	GM12878	blood:	n/a	n/a

(count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1600623-1600673	HEK293	kidney:	embryo
2	chr20:1600705-1600755	H1-hESC	embryonic stem cell:	embryo
3	chr20:1600705-1600755	GM12892	blood:	n/a
4	chr20:1600623-1600673	HEK293	kidney:	embryo
5	chr20:1600705-1600755	H1-hESC	embryonic stem cell:	embryo
6	chr20:1600705-1600755	GM12892	blood:	n/a
7	chr20:1600623-1600673	Caco-2	colon:	n/a
8	chr20:1600623-1600673	SAEC	small airway:	n/a
9	chr20:1600705-1600755	PrEC	prostate:	n/a
10	chr20:1610358-1610408	AG04450	lung:	fetal
11	chr20:1600641-1600691	AG04450	lung:	fetal
12	chr20:1616387-1616437	PANC-1	pancreas:	n/a
13	chr20:1610358-1610408	U87	brain:	n/a
14	chr20:1616387-1616437	H1-hESC	embryonic stem cell:	embryo
15	chr20:1616387-1616437	GM06990	blood:	n/a
16	chr20:1600641-1600691	NB4	blood:	n/a
17	chr20:1600705-1600755	U87	brain:	n/a
18	chr20:1600623-1600673	NH-A	brain:	n/a
19	chr20:1600623-1600673	PFSK-1	brain:	n/a
20	chr20:1610358-1610408	SK-N-MC	brain:	n/a
21	chr20:1600641-1600691	HIPEpiC	eye:	n/a
22	chr20:1600623-1600673	AG09309	skin:	n/a
23	chr20:1601704-1601754	Caco-2	colon:	n/a
24	chr20:1616387-1616437	NH-A	brain:	n/a
25	chr20:1601704-1601754	GM12892	blood:	n/a
26	chr20:1600705-1600755	ECC-1	luminal epithelium:	n/a
27	chr20:1600705-1600755	GM19239	blood:	n/a
28	chr20:1600705-1600755	HUVEC	blood vessel:	n/a
29	chr20:1616387-1616437	LNCaP	prostate:	n/a
30	chr20:1600641-1600691	HCM	heart:	n/a
31	chr20:1600623-1600673	NHBE	bronchial:	n/a
32	chr20:1600705-1600755	HNPCEpiC	eye:	n/a
33	chr20:1600705-1600755	HRCEpiC	kidney:	n/a
34	chr20:1616387-1616437	AG09319	gingival:	n/a
35	chr20:1610358-1610408	HRCEpiC	kidney:	n/a
36	chr20:1601704-1601754	SAEC	small airway:	n/a
37	chr20:1601704-1601754	AG04449	skin:	fetal
38	chr20:1601704-1601754	AG10803	skin:	n/a
39	chr20:1601704-1601754	K562	blood:	n/a
40	chr20:1600623-1600673	MCF-7	breast:	n/a
41	chr20:1600641-1600691	HepG2	liver:	n/a
42	chr20:1610358-1610408	Hela-S3	cervix:	n/a
43	chr20:1601704-1601754	HEK293	kidney:	embryo
44	chr20:1610358-1610408	PrEC	prostate:	n/a
45	chr20:1600705-1600755	K562	blood:	n/a
46	chr20:1601704-1601754	Hela-S3	cervix:	n/a
47	chr20:1616387-1616437	AG09309	skin:	n/a
48	chr20:1616387-1616437	BE2_C	brain:	n/a
49	chr20:1600623-1600673	Hepatocyte	liver:	n/a
50	chr20:1610358-1610408	A549	lung:	n/a

No data

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SIRPG-2	chr20:1610868-1610952	NONHSAT078123
2	lnc-SIRPG-2	chr20:1610868-1610952	NONHSAT078122
3	lnc-SIRPA-3	chr20:1614154-1614366	NR_110090
4	lnc-SIRPG-2	chr20:1611060-1611289	NONHSAT078123
5	lnc-SIRPA-3	chr20:1614272-1614366	ENSG00000237914
6	lnc-SIRPG-2	chr20:1610173-1610282	NONHSAT078123
7	lnc-SIRPA-3	chr20:1614154-1614366	ENSG00000237914
8	lnc-SIRPG-2	chr20:1611341-1611482	NONHSAT078122
9	lnc-SIRPG-2	chr20:1609798-1610282	NONHSAT078122

No data

Variant related genes	Relation type
SIRPB1	TF binding region
ENSG00000260861	TF binding region
SIRPG	TF binding region
ENSG00000237914	TF binding region
SIRPB1	CpG island
ENSG00000260861	CpG island
SIRPG	CpG island
ENSG00000237914	CpG island
KIAA0831	miRNA target sites
SOX4	miRNA target sites

Extended variants
information (count: 1269 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1269 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556158906	chr20:1585327-1585328	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572655081	chr20:1585349-1585350	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113852303	chr20:1585351-1585352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111393658	chr20:1585352-1585353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs56057189	chr20:1585382-1585383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575923473	chr20:1585391-1585392	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs148754551	chr20:1585397-1585398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs561413531	chr20:1585420-1585421	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs532037172	chr20:1585436-1585437	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200993244	chr20:1585445-1585446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs201575883	chr20:1585446-1585447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532836389	chr20:1585467-1585468	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551043326	chr20:1585485-1585486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs566268019	chr20:1585493-1585494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527476196	chr20:1585501-1585502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2317871	chr20:1585530-1585531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2317872	chr20:1585533-1585534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2317873	chr20:1585540-1585541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549208928	chr20:1585550-1585551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567400896	chr20:1585551-1585552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199605818	chr20:1585576-1585577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113053287	chr20:1585614-1585615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111860307	chr20:1585623-1585624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201504555	chr20:1585655-1585656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556247920	chr20:1585668-1585669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571688107	chr20:1585680-1585681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2317874	chr20:1585773-1585774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs2317875	chr20:1585775-1585776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs3011210	chr20:1585795-1585796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2873569	chr20:1585838-1585839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs189607793	chr20:1585906-1585907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2422616	chr20:1586178-1586179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554291548	chr20:1586213-1586214	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs71230436	chr20:1586305-1586306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs193062366	chr20:1586314-1586315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142344832	chr20:1586316-1586317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561613316	chr20:1586349-1586350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572613016	chr20:1586385-1586386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542848925	chr20:1586444-1586445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555156291	chr20:1586480-1586481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2422619	chr20:1586501-1586502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571916952	chr20:1586521-1586522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576626330	chr20:1586534-1586535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571385719	chr20:1586578-1586579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200716503	chr20:1586598-1586599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2422620	chr20:1586673-1586674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2422621	chr20:1586697-1586698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs544118201	chr20:1586714-1586715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2422622	chr20:1587366-1587367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190291057	chr20:1587372-1587373	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
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1569800-1587000	Weak transcription	Spleen	Spleen
2	chr20:1570400-1599800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr20:1571000-1599000	Weak transcription	Primary T cells from cord blood	blood
4	chr20:1580000-1591400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr20:1584200-1590200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr20:1585000-1590000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr20:1588000-1589800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr20:1589600-1600000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr20:1589800-1593600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr20:1590000-1590600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
11	chr20:1590200-1592600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr20:1590600-1593200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr20:1591400-1592400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr20:1592400-1599200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr20:1592600-1594600	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr20:1593200-1594400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr20:1593600-1594400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr20:1594400-1595200	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr20:1594400-1598800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:1594600-1597200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr20:1595200-1595400	Genic enhancers	Monocytes-CD14+_RO01746	blood
22	chr20:1595400-1596400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
23	chr20:1595800-1597200	Enhancers	Primary B cells from cord blood	blood
24	chr20:1596400-1602400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr20:1596600-1598400	Enhancers	Hela-S3	cervix
26	chr20:1596600-1599400	Enhancers	HUVEC	blood vessel
27	chr20:1597000-1597400	Enhancers	Primary B cells from peripheral blood	blood
28	chr20:1597200-1597600	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr20:1597200-1598400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr20:1597400-1598000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr20:1597400-1599600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr20:1597600-1598400	Enhancers	Primary B cells from cord blood	blood
33	chr20:1598000-1599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr20:1598000-1600200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr20:1598400-1598800	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr20:1598400-1598800	Weak transcription	Primary B cells from cord blood	blood
37	chr20:1598400-1600600	Weak transcription	Hela-S3	cervix
38	chr20:1598600-1598800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr20:1598800-1599800	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr20:1598800-1600000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
41	chr20:1598800-1600200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:1598800-1600800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr20:1598800-1601800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr20:1599000-1599400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr20:1599000-1600000	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr20:1599000-1601800	Enhancers	Spleen	Spleen
47	chr20:1599200-1599800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr20:1599400-1600600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr20:1599400-1602200	Weak transcription	HUVEC	blood vessel
50	chr20:1599600-1600200	ZNF genes & repeats	Primary B cells from peripheral blood	blood

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