Variant report

Variant	esv3515439
Chromosome Location	chr20:29508921-29536159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:683)
CpG islands
(count:428)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29525107-29525240	K562	blood:	n/a	n/a
2	ARID3A	chr20:29518600-29518798	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:29518597-29518954	K562	blood:	n/a	n/a
4	ATF1	chr20:29518591-29518973	K562	blood:	n/a	n/a
5	ATF3	chr20:29518633-29518875	HepG2	liver:	n/a	n/a
6	ATF3	chr20:29518652-29518922	K562	blood:	n/a	n/a
7	BACH1	chr20:29518592-29518968	K562	blood:	n/a	n/a
8	BATF	chr20:29520657-29520910	GM12878	blood:	n/a	n/a
9	BATF	chr20:29518455-29518872	GM12878	blood:	n/a	n/a
10	BATF	chr20:29518491-29518798	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:29523723-29524008	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:29516779-29517060	GM12878	blood:	n/a	n/a
13	BCL11A	chr20:29518335-29518811	GM12878	blood:	n/a	n/a
14	BCL11A	chr20:29520637-29520909	GM12878	blood:	n/a	n/a
15	BCL11A	chr20:29518175-29518857	GM12878	blood:	n/a	n/a
16	BHLHE40	chr20:29525056-29525392	K562	blood:	n/a	n/a
17	BHLHE40	chr20:29518173-29518373	K562	blood:	n/a	n/a
18	BHLHE40	chr20:29519279-29519645	K562	blood:	n/a	n/a
19	BHLHE40	chr20:29518582-29518977	K562	blood:	n/a	n/a
20	BHLHE40	chr20:29520883-29521051	K562	blood:	n/a	n/a
21	BRCA1	chr20:29518701-29518954	GM12878	blood:	n/a	n/a
22	BRCA1	chr20:29518600-29518957	HepG2	liver:	n/a	n/a
23	BRCA1	chr20:29519538-29519561	GM12878	blood:	n/a	n/a
24	CBX3	chr20:29518184-29518950	K562	blood:	n/a	n/a
25	CBX3	chr20:29518131-29518969	K562	blood:	n/a	n/a
26	CBX3	chr20:29524962-29525647	K562	blood:	n/a	n/a
27	CCNT2	chr20:29518343-29518967	K562	blood:	n/a	n/a
28	CCNT2	chr20:29525150-29525425	K562	blood:	n/a	n/a
29	CEBPB	chr20:29519534-29519737	HepG2	liver:	n/a	n/a
30	CEBPB	chr20:29516872-29517011	K562	blood:	n/a	n/a
31	CEBPB	chr20:29518592-29518965	HepG2	liver:	n/a	n/a
32	CEBPB	chr20:29518012-29518372	K562	blood:	n/a	n/a
33	CEBPB	chr20:29519439-29519738	K562	blood:	n/a	n/a
34	CEBPB	chr20:29518592-29518972	K562	blood:	n/a	n/a
35	CEBPD	chr20:29518248-29518992	K562	blood:	n/a	n/a
36	CHD1	chr20:29518602-29518794	GM12878	blood:	n/a	n/a
37	CHD1	chr20:29518607-29518957	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr20:29518604-29518957	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr20:29518603-29518968	GM12878	blood:	n/a	n/a
40	CHD2	chr20:29518343-29518974	K562	blood:	n/a	n/a
41	CHD2	chr20:29518347-29518370	HepG2	liver:	n/a	n/a
42	CHD2	chr20:29519536-29519564	HepG2	liver:	n/a	n/a
43	CHD2	chr20:29519362-29519561	K562	blood:	n/a	n/a
44	CHD2	chr20:29518598-29518962	HepG2	liver:	n/a	n/a
45	CTCF	chr20:29518751-29518887	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr20:29525117-29525257	A549	lung:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
47	CTCF	chr20:29525080-29525230	GM12864	blood:	n/a	chr20:29525181-29525191 chr20:29525180-29525193
48	CTCF	chr20:29521000-29521150	RPTEC	kidney:	n/a	n/a
49	CTCF	chr20:29520940-29521090	K562	blood:	n/a	n/a
50	CTCF	chr20:29535640-29535790	SK-N-SH_RA	brain:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29535150-29535200	NT2-D1	testis:	n/a
2	chr20:29535150-29535200	NT2-D1	testis:	n/a
3	chr20:29534074-29534124	AoSMC	blood vessel:	n/a
4	chr20:29535007-29535057	HCT-116	colon:	n/a
5	chr20:29535056-29535106	AG04449	skin:	fetal
6	chr20:29520583-29520633	HAEpiC	amniotic membrane:	n/a
7	chr20:29534074-29534124	ProgFib	skin:	n/a
8	chr20:29535150-29535200	AG09309	skin:	n/a
9	chr20:29534074-29534124	RPTEC	kidney:	n/a
10	chr20:29535056-29535106	HepG2	liver:	n/a
11	chr20:29535056-29535106	PFSK-1	brain:	n/a
12	chr20:29535056-29535106	HMEC	breast:	n/a
13	chr20:29535013-29535063	PFSK-1	brain:	n/a
14	chr20:29535150-29535200	HepG2	liver:	n/a
15	chr20:29522467-29522517	SK-N-MC	brain:	n/a
16	chr20:29535056-29535106	AoSMC	blood vessel:	n/a
17	chr20:29534074-29534124	NT2-D1	testis:	n/a
18	chr20:29535013-29535063	RPTEC	kidney:	n/a
19	chr20:29534074-29534124	PFSK-1	brain:	n/a
20	chr20:29535007-29535057	BE2_C	brain:	n/a
21	chr20:29534074-29534124	HL-60	blood:	n/a
22	chr20:29522467-29522517	ovcar-3	ovarian:	n/a
23	chr20:29522467-29522517	AG04450	lung:	fetal
24	chr20:29534074-29534124	CMK	blood:	n/a
25	chr20:29535013-29535063	CMK	blood:	n/a
26	chr20:29535013-29535063	HMEC	breast:	n/a
27	chr20:29535007-29535057	AG04450	lung:	fetal
28	chr20:29535007-29535057	HNPCEpiC	eye:	n/a
29	chr20:29534074-29534124	SKMC	muscle:	n/a
30	chr20:29535007-29535057	MCF10A-Er-Src	breast:	n/a
31	chr20:29520583-29520633	HCM	heart:	n/a
32	chr20:29534074-29534124	Hepatocyte	liver:	n/a
33	chr20:29535013-29535063	AG09309	skin:	n/a
34	chr20:29535013-29535063	SK-N-MC	brain:	n/a
35	chr20:29522467-29522517	AoSMC	blood vessel:	n/a
36	chr20:29535007-29535057	HCM	heart:	n/a
37	chr20:29534074-29534124	H1-hESC	embryonic stem cell:	embryo
38	chr20:29522467-29522517	MCF-7	breast:	n/a
39	chr20:29535013-29535063	HEK293	kidney:	embryo
40	chr20:29535013-29535063	ProgFib	skin:	n/a
41	chr20:29535007-29535057	T-47D	breast:	n/a
42	chr20:29522467-29522517	NT2-D1	testis:	n/a
43	chr20:29522467-29522517	Hela-S3	cervix:	n/a
44	chr20:29522467-29522517	AG09319	gingival:	n/a
45	chr20:29535056-29535106	SAEC	small airway:	n/a
46	chr20:29535150-29535200	HRCEpiC	kidney:	n/a
47	chr20:29522467-29522517	HEEpiC	esophagus:	n/a
48	chr20:29522467-29522517	H1-hESC	embryonic stem cell:	embryo
49	chr20:29534074-29534124	LNCaP	prostate:	n/a
50	chr20:29535150-29535200	HCF	heart:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:29520570..29521135-chr20:29591146..29591730,2	K562	blood:
2	chr20:29523038..29524935-chr20:29609973..29612060,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB116-2	chr20:29522947-29522987	ENSG00000225490
2	lnc-DEFB116-2	chr20:29521637-29522148	ENSG00000225490

No data

Variant related genes	Relation type
ENSG00000225490	TF binding region
ENSG00000205611	TF binding region
ENSG00000225490	CpG island
ENSG00000205611	CpG island
ENSG00000149531	chromatin interactions

Extended variants
information (count: 1880 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1880 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568456564	chr20:29508930-29508931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs55645718	chr20:29508931-29508932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534094411	chr20:29508954-29508955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187400271	chr20:29508966-29508967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369116537	chr20:29508984-29508985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62199760	chr20:29509015-29509016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149130561	chr20:29509024-29509025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62199761	chr20:29509032-29509033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539905957	chr20:29509035-29509036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556722349	chr20:29509049-29509050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376645468	chr20:29509073-29509074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576502281	chr20:29509088-29509089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542281074	chr20:29509091-29509092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148365660	chr20:29509093-29509094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572306287	chr20:29509121-29509122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143211659	chr20:29509124-29509125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6141265	chr20:29509164-29509165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564324201	chr20:29509165-29509166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533015804	chr20:29509186-29509187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6141266	chr20:29509231-29509232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138468013	chr20:29509270-29509271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371219666	chr20:29509271-29509272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142768748	chr20:29509277-29509278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150738124	chr20:29509301-29509302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548578011	chr20:29509305-29509306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568368980	chr20:29509306-29509307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528010757	chr20:29509359-29509360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547807357	chr20:29509416-29509417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571003418	chr20:29509423-29509424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2424795	chr20:29509439-29509440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs201076891	chr20:29509445-29509446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6141267	chr20:29509454-29509455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570170090	chr20:29509455-29509456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190690740	chr20:29509456-29509457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2424796	chr20:29509469-29509470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139048896	chr20:29509481-29509482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541304382	chr20:29509549-29509550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149867898	chr20:29509550-29509551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577767219	chr20:29509636-29509637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543254717	chr20:29509651-29509652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563004763	chr20:29509662-29509663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528960517	chr20:29509675-29509676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144146840	chr20:29509701-29509702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370738804	chr20:29509709-29509710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377663596	chr20:29509730-29509731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559284771	chr20:29509732-29509733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374789674	chr20:29509744-29509745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528101171	chr20:29509745-29509746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548065572	chr20:29509756-29509757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183836576	chr20:29509788-29509789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29507600-29509400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:29509400-29515000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr20:29510000-29510800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr20:29510000-29511000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr20:29510400-29510600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr20:29510400-29511000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr20:29510800-29518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr20:29510800-29518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:29511000-29512000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr20:29511200-29512200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr20:29511600-29511800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr20:29511600-29512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:29511800-29513600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:29512000-29512200	Enhancers	Primary T cells from cord blood	blood
15	chr20:29512000-29512200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr20:29512000-29512400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr20:29512200-29518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr20:29512400-29512800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr20:29512600-29517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr20:29512800-29513000	Enhancers	Primary T cells from cord blood	blood
21	chr20:29512800-29513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr20:29513000-29518200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr20:29515000-29518400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr20:29515600-29515800	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr20:29515600-29516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:29515800-29516200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr20:29516000-29516800	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr20:29516200-29516400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr20:29516200-29516400	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr20:29516200-29516600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr20:29516200-29516600	Active TSS	Right Atrium	heart
32	chr20:29516200-29516600	Active TSS	Right Ventricle	heart
33	chr20:29516200-29516600	Active TSS	Stomach Smooth Muscle	stomach
34	chr20:29516200-29516800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr20:29516200-29516800	Active TSS	Brain Anterior Caudate	brain
36	chr20:29516200-29516800	ZNF genes & repeats	Pancreas	Pancrea
37	chr20:29516200-29517000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
38	chr20:29516400-29516600	Enhancers	Duodenum Mucosa	Duodenum
39	chr20:29516400-29516600	Active TSS	Left Ventricle	heart
40	chr20:29516400-29516800	Enhancers	Primary hematopoietic stem cells	blood
41	chr20:29516400-29516800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr20:29516400-29516800	Bivalent Enhancer	Placenta	Placenta
43	chr20:29516400-29516800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr20:29516400-29516800	ZNF genes & repeats	Spleen	Spleen
45	chr20:29516400-29517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr20:29516400-29518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:29516600-29516800	Flanking Active TSS	Right Ventricle	heart
48	chr20:29516600-29516800	Enhancers	Stomach Smooth Muscle	stomach
49	chr20:29516600-29517000	Weak transcription	Left Ventricle	heart
50	chr20:29516600-29518000	Weak transcription	Duodenum Mucosa	Duodenum

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