Variant report

Variant	nsv912878
Chromosome Location	chr20:41222480-41361424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:341)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:341 , 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	BACH1	chr20:41307552-41307915	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr20:41324497-41324521	K562	blood:	n/a	n/a
3	BACH1	chr20:41262897-41263215	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr20:41355345-41355582	K562	blood:	n/a	n/a
5	CEBPB	chr20:41282814-41283026	HepG2	liver:	n/a	chr20:41282919-41282930
6	CEBPB	chr20:41279055-41279225	H1-hESC	embryonic stem cell:	n/a	chr20:41279114-41279125
7	CEBPB	chr20:41359726-41359923	HepG2	liver:	n/a	n/a
8	CEBPB	chr20:41269498-41269701	HepG2	liver:	n/a	chr20:41269631-41269642
9	CEBPB	chr20:41251310-41251377	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:41234364-41234717	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:41274989-41275199	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:41341367-41341488	HepG2	liver:	n/a	n/a
13	CEBPB	chr20:41234470-41234614	K562	blood:	n/a	n/a
14	CEBPB	chr20:41240638-41240690	HepG2	liver:	n/a	chr20:41240677-41240688
15	CEBPB	chr20:41265532-41265732	HepG2	liver:	n/a	chr20:41265590-41265603 chr20:41265591-41265602
16	CEBPB	chr20:41347105-41347193	K562	blood:	n/a	n/a
17	CEBPB	chr20:41297733-41297951	HepG2	liver:	n/a	chr20:41297799-41297810
18	CTCF	chr20:41307640-41307790	GM12875	blood:	n/a	n/a
19	CTCF	chr20:41307647-41307828	GM12878	blood:	n/a	n/a
20	CTCF	chr20:41223860-41224010	GM12873	blood:	n/a	n/a
21	CTCF	chr20:41307588-41307882	MCF-7	breast:	n/a	n/a
22	CTCF	chr20:41249720-41249870	WI-38	lung:	n/a	n/a
23	CTCF	chr20:41307560-41307710	GM06990	blood:	n/a	n/a
24	CTCF	chr20:41307610-41307860	NHEK	skin:	n/a	n/a
25	CTCF	chr20:41296531-41296567	GM13977	blood:	n/a	n/a
26	CTCF	chr20:41238859-41238976	MCF-7	breast:	n/a	n/a
27	CTCF	chr20:41307670-41307780	Fibrobl	skin:	n/a	n/a
28	CTCF	chr20:41307700-41307850	GM12866	blood:	n/a	n/a
29	CTCF	chr20:41307647-41307792	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr20:41279180-41279330	GM12873	blood:	n/a	n/a
31	CTCF	chr20:41307720-41307870	HRE	kidney:	n/a	n/a
32	CTCF	chr20:41307594-41307829	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr20:41307640-41307790	SAEC	small airway:	n/a	n/a
34	CTCF	chr20:41307610-41307858	MCF-7	breast:	n/a	n/a
35	CTCF	chr20:41238740-41238890	HEK293	kidney:	n/a	n/a
36	CTCF	chr20:41238800-41238950	GM06990	blood:	n/a	n/a
37	CTCF	chr20:41307640-41307790	GM12878	blood:	n/a	n/a
38	CTCF	chr20:41307629-41307849	K562	blood:	n/a	n/a
39	CTCF	chr20:41307524-41307973	MCF-7	breast:	n/a	n/a
40	CTCF	chr20:41307700-41307850	RPTEC	kidney:	n/a	n/a
41	CTCF	chr20:41307643-41307849	LNCaP	prostate:	n/a	n/a
42	CTCF	chr20:41238840-41238990	Caco-2	colon:	n/a	n/a
43	CTCF	chr20:41307620-41307770	GM12869	blood:	n/a	n/a
44	CTCF	chr20:41307625-41307839	GM19239	blood:	n/a	n/a
45	CTCF	chr20:41307560-41307710	GM12868	blood:	n/a	n/a
46	CTCF	chr20:41238813-41238946	HepG2	liver:	n/a	n/a
47	CTCF	chr20:41307680-41307830	GM12873	blood:	n/a	n/a
48	CTCF	chr20:41307660-41307810	HCFaa	heart:	n/a	n/a
49	CTCF	chr20:41307698-41307755	ProgFib	skin:	n/a	n/a
50	CTCF	chr20:41307640-41307790	NB4	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:115296501..115298139-chr20:41277950..41280016,2	MCF-7	breast:
2	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:
3	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
4	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
5	chr1:115299061..115301144-chr20:41248782..41252439,3	MCF-7	breast:
6	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
7	chr1:115299122..115302084-chr20:41239351..41241193,2	MCF-7	breast:
8	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
9	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
10	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
11	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
12	chr20:41235856..41237826-chr20:41240786..41243321,2	K562	blood:
13	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
14	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
15	chr20:41219224..41221515-chr20:41224161..41226568,2	MCF-7	breast:
16	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
17	chr20:41232529..41235268-chr20:41239023..41240669,2	MCF-7	breast:
18	chr20:41223845..41225575-chr20:41225576..41227086,2	MCF-7	breast:
19	chr20:41112023..41112867-chr20:41307681..41308188,2	MCF-7	breast:
20	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
21	chr20:41221842..41223467-chr20:41282056..41284683,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-3	chr20:41314788-41314857	ENSG00000229042.2
2	lnc-SRSF6-11	chr20:41236034-41236199	NONHSAT079803
3	lnc-SRSF6-3	chr20:41314526-41314699	ENSG00000229042.2
4	lnc-SRSF6-3	chr20:41314123-41314471	ENSG00000229042.2
5	lnc-SRSF6-3	chr20:41314585-41314699	ENSG00000229042.2
6	lnc-SRSF6-3	chr20:41314788-41314952	ENSG00000229042.2
7	lnc-SRSF6-3	chr20:41314788-41314952	ENSG00000229042
8	lnc-SRSF6-3	chr20:41314585-41314699	ENSG00000229042
9	lnc-SRSF6-3	chr20:41314044-41314372	ENSG00000229042.2
10	lnc-SRSF6-11	chr20:41235334-41235515	NONHSAT079803
11	lnc-SRSF6-3	chr20:41315837-41316285	ENSG00000229042
12	lnc-SRSF6-3	chr20:41314123-41314471	ENSG00000229042
13	lnc-SRSF6-3	chr20:41315837-41317202	ENSG00000229042.2

No data

Variant related genes	Relation type
ENSG00000229042	TF binding region
ENSG00000229892	TF binding region
ENSG00000009307	chromatin interactions
FAHD1	miRNA target sites
CIRBP	miRNA target sites
RND3	miRNA target sites

Extended variants
information (count: 5749 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:5749 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6102919	chr20:41222480-41222481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188478465	chr20:41222504-41222505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147571630	chr20:41222511-41222512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552676341	chr20:41222533-41222534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566578473	chr20:41222534-41222535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535175133	chr20:41222579-41222580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181195991	chr20:41222586-41222587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575054512	chr20:41222624-41222625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117506890	chr20:41222663-41222664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112744400	chr20:41222664-41222665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557679820	chr20:41222679-41222680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577496206	chr20:41222706-41222707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185800369	chr20:41222758-41222759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559458012	chr20:41222767-41222768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528587599	chr20:41222839-41222840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28499156	chr20:41222875-41222876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562152461	chr20:41222876-41222877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190517886	chr20:41222882-41222883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556832954	chr20:41222900-41222901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142482274	chr20:41222905-41222906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571195555	chr20:41222925-41222926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6102920	chr20:41222931-41222932	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546598237	chr20:41222993-41222994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183729984	chr20:41223008-41223009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535547150	chr20:41223010-41223011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1883842	chr20:41223062-41223063	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs151326599	chr20:41223068-41223069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546060899	chr20:41223080-41223081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559081048	chr20:41223125-41223126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537680765	chr20:41223130-41223131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187008167	chr20:41223188-41223189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577444457	chr20:41223190-41223191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140582416	chr20:41223219-41223220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60352462	chr20:41223225-41223226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150459754	chr20:41223282-41223283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73906972	chr20:41223309-41223310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs1883843	chr20:41223356-41223357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs542203213	chr20:41223373-41223374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562191569	chr20:41223374-41223375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146598101	chr20:41223418-41223419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544834322	chr20:41223419-41223420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73906973	chr20:41223466-41223467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs6093684	chr20:41223512-41223513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6093685	chr20:41223534-41223535	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs567145498	chr20:41223540-41223541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528931461	chr20:41223569-41223570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141311507	chr20:41223591-41223592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563676882	chr20:41223659-41223660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568647126	chr20:41223666-41223667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537515287	chr20:41223687-41223688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41219200-41240200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41221600-41226200	Enhancers	Pancreas	Pancrea
3	chr20:41222600-41223600	Enhancers	Fetal Muscle Leg	muscle
4	chr20:41226200-41232400	Weak transcription	Pancreas	Pancrea
5	chr20:41227000-41227800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr20:41227400-41228000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:41227400-41228000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr20:41227400-41228200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr20:41228000-41231200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr20:41231200-41233400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr20:41232400-41232600	Enhancers	Pancreas	Pancrea
12	chr20:41232600-41233000	Weak transcription	Pancreas	Pancrea
13	chr20:41232800-41234400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:41233000-41234800	Enhancers	Pancreas	Pancrea
15	chr20:41233800-41234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr20:41234200-41234600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:41234400-41234800	Enhancers	NHEK	skin
18	chr20:41234800-41236000	Weak transcription	NHEK	skin
19	chr20:41236000-41236600	Enhancers	NHEK	skin
20	chr20:41240000-41241600	Enhancers	Fetal Brain Male	brain
21	chr20:41240000-41242800	Enhancers	Fetal Muscle Leg	muscle
22	chr20:41240200-41240400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:41240200-41240800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr20:41240400-41240600	Bivalent Enhancer	Fetal Brain Female	brain
25	chr20:41240400-41240800	Enhancers	Fetal Muscle Trunk	muscle
26	chr20:41240400-41241400	Enhancers	Fetal Stomach	stomach
27	chr20:41240600-41242200	Enhancers	Fetal Brain Female	brain
28	chr20:41241000-41242200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr20:41241800-41242400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr20:41242800-41243000	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr20:41249200-41249600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr20:41249200-41249600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr20:41249200-41249800	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr20:41249200-41249800	Active TSS	Duodenum Mucosa	Duodenum
35	chr20:41251400-41252000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:41251400-41253800	Enhancers	NHEK	skin
37	chr20:41251600-41253600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr20:41251800-41252400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr20:41251800-41252600	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr20:41253600-41270200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr20:41257000-41258200	Enhancers	Liver	Liver
42	chr20:41263000-41263400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr20:41263000-41264200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr20:41270200-41270800	Enhancers	Pancreas	Pancrea
45	chr20:41270200-41271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:41277000-41277400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr20:41278600-41279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr20:41278800-41279400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr20:41279000-41279400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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