Variant report

Variant	nsv979453
Chromosome Location	chr20:29511046-29521699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:448)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:29518597-29518954	K562	blood:	n/a	n/a
2	ARID3A	chr20:29518600-29518798	HepG2	liver:	n/a	n/a
3	ATF1	chr20:29518591-29518973	K562	blood:	n/a	n/a
4	ATF3	chr20:29518633-29518875	HepG2	liver:	n/a	n/a
5	ATF3	chr20:29518652-29518922	K562	blood:	n/a	n/a
6	BACH1	chr20:29518592-29518968	K562	blood:	n/a	n/a
7	BATF	chr20:29520657-29520910	GM12878	blood:	n/a	n/a
8	BATF	chr20:29518455-29518872	GM12878	blood:	n/a	n/a
9	BATF	chr20:29518491-29518798	GM12878	blood:	n/a	n/a
10	BCL11A	chr20:29518175-29518857	GM12878	blood:	n/a	n/a
11	BCL11A	chr20:29516779-29517060	GM12878	blood:	n/a	n/a
12	BCL11A	chr20:29520637-29520909	GM12878	blood:	n/a	n/a
13	BCL11A	chr20:29518335-29518811	GM12878	blood:	n/a	n/a
14	BHLHE40	chr20:29518173-29518373	K562	blood:	n/a	n/a
15	BHLHE40	chr20:29518582-29518977	K562	blood:	n/a	n/a
16	BHLHE40	chr20:29519279-29519645	K562	blood:	n/a	n/a
17	BHLHE40	chr20:29520883-29521051	K562	blood:	n/a	n/a
18	BRCA1	chr20:29518600-29518957	HepG2	liver:	n/a	n/a
19	BRCA1	chr20:29518701-29518954	GM12878	blood:	n/a	n/a
20	BRCA1	chr20:29519538-29519561	GM12878	blood:	n/a	n/a
21	CBX3	chr20:29518131-29518969	K562	blood:	n/a	n/a
22	CBX3	chr20:29518184-29518950	K562	blood:	n/a	n/a
23	CCNT2	chr20:29518343-29518967	K562	blood:	n/a	n/a
24	CEBPB	chr20:29519534-29519737	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:29518012-29518372	K562	blood:	n/a	n/a
26	CEBPB	chr20:29516872-29517011	K562	blood:	n/a	n/a
27	CEBPB	chr20:29518592-29518972	K562	blood:	n/a	n/a
28	CEBPB	chr20:29518592-29518965	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:29519439-29519738	K562	blood:	n/a	n/a
30	CEBPD	chr20:29518248-29518992	K562	blood:	n/a	n/a
31	CHD1	chr20:29518602-29518794	GM12878	blood:	n/a	n/a
32	CHD1	chr20:29518607-29518957	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr20:29518598-29518962	HepG2	liver:	n/a	n/a
34	CHD2	chr20:29518603-29518968	GM12878	blood:	n/a	n/a
35	CHD2	chr20:29519536-29519564	HepG2	liver:	n/a	n/a
36	CHD2	chr20:29519362-29519561	K562	blood:	n/a	n/a
37	CHD2	chr20:29518343-29518974	K562	blood:	n/a	n/a
38	CHD2	chr20:29518347-29518370	HepG2	liver:	n/a	n/a
39	CHD2	chr20:29518604-29518957	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr20:29520960-29521110	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr20:29520960-29521110	K562	blood:	n/a	n/a
42	CTCF	chr20:29521020-29521170	BE2_C	brain:	n/a	n/a
43	CTCF	chr20:29520810-29521185	K562	blood:	n/a	n/a
44	CTCF	chr20:29511032-29511095	GM10248	blood:	n/a	n/a
45	CTCF	chr20:29520915-29521149	HepG2	liver:	n/a	n/a
46	CTCF	chr20:29520959-29521137	HepG2	liver:	n/a	n/a
47	CTCF	chr20:29520960-29521110	GM12873	blood:	n/a	n/a
48	CTCF	chr20:29521011-29521053	MCF-7	breast:	n/a	n/a
49	CTCF	chr20:29518742-29518839	K562	blood:	n/a	n/a
50	CTCF	chr20:29518766-29518827	GM19238	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29520583-29520633	SK-N-SH_RA	brain:	n/a
2	chr20:29520583-29520633	NH-A	brain:	n/a
3	chr20:29520583-29520633	HEEpiC	esophagus:	n/a
4	chr20:29520583-29520633	GM12878	blood:	n/a
5	chr20:29520583-29520633	Caco-2	colon:	n/a
6	chr20:29520583-29520633	HCF	heart:	n/a
7	chr20:29520583-29520633	HUVEC	blood vessel:	n/a
8	chr20:29520583-29520633	HRPEpiC	eye:	n/a
9	chr20:29520583-29520633	K562	blood:	n/a
10	chr20:29520583-29520633	GM12891	blood:	n/a
11	chr20:29520583-29520633	BJ	skin:	n/a
12	chr20:29520583-29520633	HNPCEpiC	eye:	n/a
13	chr20:29520583-29520633	Hela-S3	cervix:	n/a
14	chr20:29520583-29520633	HRCEpiC	kidney:	n/a
15	chr20:29520583-29520633	NHBE	bronchial:	n/a
16	chr20:29520583-29520633	NT2-D1	testis:	n/a
17	chr20:29520583-29520633	HRE	kidney:	n/a
18	chr20:29520583-29520633	HepG2	liver:	n/a
19	chr20:29520583-29520633	AG09309	skin:	n/a
20	chr20:29520583-29520633	IMR90	lung:	fetal
21	chr20:29520583-29520633	GM06990	blood:	n/a
22	chr20:29520583-29520633	ovcar-3	ovarian:	n/a
23	chr20:29520583-29520633	NHDF-neo	bronchial:	n/a
24	chr20:29520583-29520633	HEK293	kidney:	embryo
25	chr20:29520583-29520633	HAEpiC	amniotic membrane:	n/a
26	chr20:29520583-29520633	AoSMC	blood vessel:	n/a
27	chr20:29520583-29520633	ECC-1	luminal epithelium:	n/a
28	chr20:29520583-29520633	HMEC	breast:	n/a
29	chr20:29520583-29520633	MCF10A-Er-Src	breast:	n/a
30	chr20:29520583-29520633	Hepatocyte	liver:	n/a
31	chr20:29520583-29520633	AG04449	skin:	fetal
32	chr20:29520583-29520633	SKMC	muscle:	n/a
33	chr20:29520583-29520633	H1-hESC	embryonic stem cell:	embryo
34	chr20:29520583-29520633	HCT-116	colon:	n/a
35	chr20:29520583-29520633	AG10803	skin:	n/a
36	chr20:29520583-29520633	T-47D	breast:	n/a
37	chr20:29520583-29520633	RPTEC	kidney:	n/a
38	chr20:29520583-29520633	HCM	heart:	n/a
39	chr20:29520583-29520633	PANC-1	pancreas:	n/a
40	chr20:29520583-29520633	AG09319	gingival:	n/a
41	chr20:29520583-29520633	AG04450	lung:	fetal
42	chr20:29520583-29520633	SK-N-SH	brain:	n/a
43	chr20:29520583-29520633	NB4	blood:	n/a
44	chr20:29520583-29520633	PFSK-1	brain:	n/a
45	chr20:29520583-29520633	SK-N-MC	brain:	n/a
46	chr20:29520583-29520633	CMK	blood:	n/a
47	chr20:29520583-29520633	PrEC	prostate:	n/a
48	chr20:29520583-29520633	GM19239	blood:	n/a
49	chr20:29520583-29520633	BE2_C	brain:	n/a
50	chr20:29520583-29520633	SAEC	small airway:	n/a

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

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

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

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

No data

Variant related genes	Relation type
ENSG00000205611	TF binding region
ENSG00000205611	CpG island

Extended variants
information (count: 841 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:841 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543178744	chr20:29511047-29511048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559713649	chr20:29511056-29511057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528719825	chr20:29511067-29511068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545167777	chr20:29511069-29511070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565077579	chr20:29511070-29511071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530772702	chr20:29511075-29511076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200105314	chr20:29511104-29511105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141681402	chr20:29511109-29511110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568956951	chr20:29511133-29511134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185493627	chr20:29511162-29511163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374150784	chr20:29511164-29511165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190747228	chr20:29511183-29511184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538875050	chr20:29511206-29511207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558679190	chr20:29511220-29511221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180751693	chr20:29511221-29511222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185130666	chr20:29511222-29511223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554626685	chr20:29511241-29511242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201486260	chr20:29511268-29511269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539467255	chr20:29511270-29511271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542936976	chr20:29511273-29511274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553657931	chr20:29511316-29511317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs199707234	chr20:29511355-29511356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374739837	chr20:29511367-29511368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189940180	chr20:29511417-29511418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557490932	chr20:29511424-29511425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8122227	chr20:29511427-29511428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs77560457	chr20:29511433-29511434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs564991107	chr20:29511463-29511464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530931329	chr20:29511468-29511469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139804941	chr20:29511481-29511482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560929276	chr20:29511489-29511490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530134247	chr20:29511502-29511503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533854466	chr20:29511536-29511537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546577114	chr20:29511551-29511552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373303776	chr20:29511552-29511553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566800289	chr20:29511576-29511577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532170100	chr20:29511605-29511606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377522807	chr20:29511611-29511612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143512296	chr20:29511664-29511665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146264151	chr20:29511667-29511668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557144520	chr20:29511689-29511690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537955703	chr20:29511692-29511693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377519659	chr20:29511704-29511705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370708477	chr20:29511751-29511752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567943200	chr20:29511756-29511757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533823743	chr20:29511814-29511815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571462091	chr20:29511831-29511832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553348666	chr20:29511842-29511843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543996150	chr20:29511848-29511849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539545324	chr20:29511880-29511881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29509400-29515000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:29510800-29518000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr20:29510800-29518200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr20:29511000-29512000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr20:29511200-29512200	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr20:29511600-29511800	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr20:29511600-29512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr20:29511800-29513600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr20:29512000-29512200	Enhancers	Primary T cells from cord blood	blood
10	chr20:29512000-29512200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr20:29512000-29512400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr20:29512200-29518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:29512400-29512800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr20:29512600-29517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr20:29512800-29513000	Enhancers	Primary T cells from cord blood	blood
16	chr20:29512800-29513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr20:29513000-29518200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr20:29515000-29518400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr20:29515600-29515800	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr20:29515600-29516800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:29515800-29516200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr20:29516000-29516800	ZNF genes & repeats	Brain Germinal Matrix	brain
23	chr20:29516200-29516400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr20:29516200-29516400	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr20:29516200-29516600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
26	chr20:29516200-29516600	Active TSS	Right Atrium	heart
27	chr20:29516200-29516600	Active TSS	Right Ventricle	heart
28	chr20:29516200-29516600	Active TSS	Stomach Smooth Muscle	stomach
29	chr20:29516200-29516800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:29516200-29516800	Active TSS	Brain Anterior Caudate	brain
31	chr20:29516200-29516800	ZNF genes & repeats	Pancreas	Pancrea
32	chr20:29516200-29517000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr20:29516400-29516600	Enhancers	Duodenum Mucosa	Duodenum
34	chr20:29516400-29516600	Active TSS	Left Ventricle	heart
35	chr20:29516400-29516800	Enhancers	Primary hematopoietic stem cells	blood
36	chr20:29516400-29516800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr20:29516400-29516800	Bivalent Enhancer	Placenta	Placenta
38	chr20:29516400-29516800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr20:29516400-29516800	ZNF genes & repeats	Spleen	Spleen
40	chr20:29516400-29517600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr20:29516400-29518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:29516600-29516800	Flanking Active TSS	Right Ventricle	heart
43	chr20:29516600-29516800	Enhancers	Stomach Smooth Muscle	stomach
44	chr20:29516600-29517000	Weak transcription	Left Ventricle	heart
45	chr20:29516600-29518000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr20:29516600-29518000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr20:29516600-29518200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr20:29516600-29518200	Weak transcription	Right Atrium	heart
49	chr20:29516800-29517200	Enhancers	Right Ventricle	heart
50	chr20:29516800-29517800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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