Variant report

Variant	esv3400839
Chromosome Location	chr20:1377767-1383335
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:301)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:1382054-1382645	HepG2	liver:	n/a	n/a
2	ARID3A	chr20:1380523-1381175	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:1378457-1378580	K562	blood:	n/a	n/a
4	ATF1	chr20:1380766-1380922	K562	blood:	n/a	n/a
5	BRCA1	chr20:1380725-1380925	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr20:1382360-1382563	HepG2	liver:	n/a	n/a
7	CEBPB	chr20:1378835-1379005	K562	blood:	n/a	n/a
8	CEBPB	chr20:1380404-1380984	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr20:1382269-1382529	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:1382267-1382654	HepG2	liver:	n/a	n/a
11	CTCF	chr20:1378380-1378530	HVMF	connective:	n/a	n/a
12	CTCF	chr20:1378480-1378630	GM12873	blood:	n/a	n/a
13	CTCF	chr20:1378923-1379050	MCF-7	breast:	n/a	n/a
14	CTCF	chr20:1378503-1378597	LNCaP	prostate:	n/a	n/a
15	CTCF	chr20:1379080-1379230	A549	lung:	n/a	n/a
16	CTCF	chr20:1378500-1378650	GM12878	blood:	n/a	n/a
17	CTCF	chr20:1377929-1378909	A549	lung:	n/a	n/a
18	CTCF	chr20:1378860-1379010	GM12878	blood:	n/a	n/a
19	CTCF	chr20:1378520-1378670	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr20:1378440-1378590	HepG2	liver:	n/a	n/a
21	CTCF	chr20:1378500-1378650	HBMEC	blood vessel:	n/a	n/a
22	CTCF	chr20:1378978-1379015	GM19240	blood:	n/a	n/a
23	CTCF	chr20:1378928-1379103	GM10248	blood:	n/a	n/a
24	CTCF	chr20:1378520-1378670	MCF-7	breast:	n/a	n/a
25	CTCF	chr20:1378367-1378680	K562	blood:	n/a	n/a
26	CTCF	chr20:1378922-1379063	GM19238	blood:	n/a	n/a
27	CTCF	chr20:1378945-1379067	GM19239	blood:	n/a	n/a
28	CTCF	chr20:1378500-1378650	HMF	breast:	n/a	n/a
29	CTCF	chr20:1378388-1379091	K562	blood:	n/a	n/a
30	CTCF	chr20:1378349-1378658	HepG2	liver:	n/a	n/a
31	CTCF	chr20:1378912-1379117	HepG2	liver:	n/a	n/a
32	CTCF	chr20:1378460-1378610	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr20:1378918-1379094	K562	blood:	n/a	n/a
34	CTCF	chr20:1378534-1378584	GM20000	blood:	n/a	n/a
35	CTCF	chr20:1378362-1378696	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr20:1378883-1379087	Spleen_OC	spleen:	n/a	n/a
37	CTCF	chr20:1378380-1378530	HCT-116	colon:	n/a	n/a
38	CTCF	chr20:1378920-1379070	HCT-116	colon:	n/a	n/a
39	CTCF	chr20:1378377-1378711	K562	blood:	n/a	n/a
40	CTCF	chr20:1378300-1378450	HCM	heart:	n/a	n/a
41	CTCF	chr20:1378499-1378610	MCF-7	breast:	n/a	n/a
42	CTCF	chr20:1378960-1379110	GM12875	blood:	n/a	n/a
43	CTCF	chr20:1378480-1378630	AG04449	skin:	n/a	n/a
44	CTCF	chr20:1378540-1378690	NHLF	lung:	n/a	n/a
45	CTCF	chr20:1378378-1378676	K562	blood:	n/a	n/a
46	CTCF	chr20:1378440-1378590	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr20:1378980-1379130	HepG2	liver:	n/a	n/a
48	CTCF	chr20:1378317-1378727	A549	lung:	n/a	n/a
49	CTCF	chr20:1378488-1378603	HepG2	liver:	n/a	n/a
50	CTCF	chr20:1378960-1379110	GM12873	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:1293893..1294743-chr20:1378150..1379511,4	MCF-7	breast:
2	chr20:1311170..1313178-chr20:1375067..1377982,2	MCF-7	breast:
3	chr20:1293833..1294789-chr20:1378404..1378993,2	MCF-7	breast:
4	chr20:1372265..1374916-chr20:1377104..1379647,4	MCF-7	breast:
5	chr20:1381373..1382886-chr3:14269798..14272638,2	MCF-7	breast:
6	chr20:1370285..1375864-chr20:1379539..1381577,4	K562	blood:

No data

Variant related genes	Relation type
FKBP1A	TF binding region
ENSG00000088832	chromatin interactions
ENSG00000125775	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202220511	chr20:1377787-1377788	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547586906	chr20:1377807-1377808	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs551340320	chr20:1377864-1377865	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs376075889	chr20:1377867-1377868	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570893148	chr20:1377886-1377887	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs183197029	chr20:1377895-1377896	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2207827	chr20:1377914-1377915	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556113684	chr20:1377919-1377920	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs6109784	chr20:1377937-1377938	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535351252	chr20:1377940-1377941	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs186991456	chr20:1377949-1377950	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192726183	chr20:1377974-1377975	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142206186	chr20:1378001-1378002	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536444085	chr20:1378027-1378028	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111385304	chr20:1378039-1378040	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs184293062	chr20:1378067-1378068	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115736731	chr20:1378115-1378116	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs371097955	chr20:1378164-1378165	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs563264562	chr20:1378181-1378182	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532092878	chr20:1378215-1378216	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs542544213	chr20:1378257-1378258	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs151204467	chr20:1378259-1378260	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs200371589	chr20:1378279-1378280	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs141309980	chr20:1378280-1378281	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs570882303	chr20:1378324-1378325	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs533447693	chr20:1378354-1378355	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189252085	chr20:1378369-1378370	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551036599	chr20:1378393-1378394	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs145180835	chr20:1378405-1378406	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs555251359	chr20:1378471-1378472	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs565930636	chr20:1378487-1378488	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs6078969	chr20:1378526-1378527	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs534538647	chr20:1378678-1378679	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs557918187	chr20:1378703-1378704	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs577705814	chr20:1378719-1378720	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs147586133	chr20:1378805-1378806	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs192767445	chr20:1378852-1378853	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573690855	chr20:1378930-1378931	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs567950579	chr20:1378978-1378979	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538772798	chr20:1379058-1379059	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs536404016	chr20:1379059-1379060	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6041976	chr20:1379086-1379087	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs184655046	chr20:1379115-1379116	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs142017904	chr20:1379150-1379151	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541301027	chr20:1379184-1379185	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189490092	chr20:1379298-1379299	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs181553391	chr20:1379309-1379310	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534733448	chr20:1379363-1379364	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs185889126	chr20:1379419-1379420	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs80120042	chr20:1379422-1379423	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	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
Ovarian clear cell carcinoma	21343371	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
Lung cancer	18438408	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1374400-1379600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr20:1374400-1381400	Weak transcription	Gastric	stomach
3	chr20:1374600-1378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:1374600-1378600	Weak transcription	K562	blood
5	chr20:1374600-1378800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr20:1374600-1379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr20:1374600-1379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:1374600-1380000	Weak transcription	Liver	Liver
9	chr20:1374600-1380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr20:1374800-1379400	Weak transcription	Colonic Mucosa	Colon
11	chr20:1374800-1382800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr20:1374800-1383000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:1375200-1379400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr20:1375400-1379000	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr20:1376000-1379200	Enhancers	Dnd41	blood
16	chr20:1376200-1378800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr20:1376600-1377800	Weak transcription	Lung	lung
18	chr20:1377000-1377800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr20:1377000-1377800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:1377000-1378000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr20:1377400-1377800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr20:1377400-1378000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr20:1377400-1378000	Enhancers	Fetal Thymus	thymus
24	chr20:1377400-1378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr20:1377400-1379600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:1377600-1379400	Weak transcription	NHEK	skin
27	chr20:1377600-1379600	Weak transcription	HMEC	breast
28	chr20:1377600-1383000	Enhancers	HUVEC	blood vessel
29	chr20:1377800-1378000	Bivalent Enhancer	Left Ventricle	heart
30	chr20:1377800-1378000	Enhancers	Lung	lung
31	chr20:1377800-1378000	Bivalent Enhancer	HepG2	liver
32	chr20:1377800-1382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr20:1377800-1382800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr20:1378000-1382800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr20:1378000-1383000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr20:1378200-1378400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr20:1378400-1380000	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr20:1378400-1380200	Enhancers	Primary B cells from cord blood	blood
40	chr20:1378400-1380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr20:1378600-1378800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr20:1378600-1378800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:1378600-1379200	Enhancers	Stomach Mucosa	stomach
44	chr20:1378600-1379200	Enhancers	K562	blood
45	chr20:1378600-1379600	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
46	chr20:1378600-1379800	Enhancers	Fetal Kidney	kidney
47	chr20:1378600-1379800	Bivalent Enhancer	HepG2	liver
48	chr20:1378600-1383600	Enhancers	Fetal Intestine Large	intestine
49	chr20:1378600-1384400	Enhancers	Fetal Intestine Small	intestine
50	chr20:1378800-1379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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