Variant report

Variant	nsv526587
Chromosome Location	chr18:28629839-28639548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:28638602-28639276	HepG2	liver:	n/a	n/a
2	BATF	chr18:28630609-28630927	GM12878	blood:	n/a	chr18:28630793-28630801 chr18:28630771-28630782
3	CEBPB	chr18:28637109-28637335	A549	lung:	n/a	chr18:28637161-28637172
4	CEBPB	chr18:28639017-28639155	HepG2	liver:	n/a	n/a
5	CEBPB	chr18:28638538-28639284	HepG2	liver:	n/a	chr18:28639221-28639234
6	CEBPB	chr18:28638583-28639275	HepG2	liver:	n/a	chr18:28639221-28639234
7	CEBPB	chr18:28637017-28637308	HepG2	liver:	n/a	chr18:28637161-28637172
8	CREB1	chr18:28630726-28630990	GM12878	blood:	n/a	n/a
9	CREB1	chr18:28630525-28631081	GM12878	blood:	n/a	n/a
10	EP300	chr18:28630749-28630759	GM12878	blood:	n/a	n/a
11	EP300	chr18:28638847-28639227	HepG2	liver:	n/a	n/a
12	EP300	chr18:28638775-28639136	HepG2	liver:	n/a	chr18:28638846-28638854
13	FOS	chr18:28630657-28630958	MCF10A-Er-Src	breast:	n/a	chr18:28630776-28630787 chr18:28630775-28630782 chr18:28630775-28630783
14	FOS	chr18:28630652-28630964	MCF10A-Er-Src	breast:	n/a	chr18:28630776-28630787 chr18:28630775-28630782 chr18:28630775-28630783
15	FOS	chr18:28637021-28637295	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr18:28630625-28630972	MCF10A-Er-Src	breast:	n/a	chr18:28630776-28630787 chr18:28630775-28630782 chr18:28630775-28630783
17	FOS	chr18:28630634-28631008	MCF10A-Er-Src	breast:	n/a	chr18:28630776-28630787 chr18:28630775-28630782 chr18:28630775-28630783
18	FOS	chr18:28636982-28637237	MCF10A-Er-Src	breast:	n/a	chr18:28636985-28636997
19	FOXA2	chr18:28638945-28639204	HepG2	liver:	n/a	n/a
20	HDAC2	chr18:28638912-28639197	HepG2	liver:	n/a	n/a
21	HNF4A	chr18:28638856-28639265	HepG2	liver:	n/a	chr18:28638877-28638890 chr18:28639059-28639074 chr18:28638877-28638889 chr18:28638877-28638889
22	HNF4A	chr18:28638876-28639177	HepG2	liver:	n/a	chr18:28638877-28638890 chr18:28639059-28639074 chr18:28638877-28638889 chr18:28638877-28638889
23	HNF4A	chr18:28638883-28639193	HepG2	liver:	n/a	chr18:28639059-28639074
24	HNF4G	chr18:28638821-28639214	HepG2	liver:	n/a	chr18:28638877-28638890 chr18:28638877-28638889 chr18:28638877-28638889
25	HNF4G	chr18:28638843-28639175	HepG2	liver:	n/a	chr18:28638877-28638890 chr18:28638877-28638889 chr18:28638877-28638889
26	JUN	chr18:28638713-28639218	HepG2	liver:	n/a	n/a
27	JUND	chr18:28638940-28639264	HepG2	liver:	n/a	n/a
28	MAFF	chr18:28638980-28639265	HepG2	liver:	n/a	n/a
29	MAFK	chr18:28638968-28639232	HepG2	liver:	n/a	n/a
30	MAFK	chr18:28639060-28639267	HepG2	liver:	n/a	n/a
31	MEF2A	chr18:28630648-28630851	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:28630834-28630943	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr18:28637010-28637203	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr18:28637199-28637399	MCF10A-Er-Src	breast:	n/a	n/a
35	RCOR1	chr18:28638649-28639214	HepG2	liver:	n/a	n/a
36	RFX5	chr18:28631337-28631388	K562	blood:	n/a	n/a
37	RUNX3	chr18:28630589-28631000	GM12878	blood:	n/a	n/a
38	SETDB1	chr18:28633569-28633816	U2OS	brain:	n/a	n/a
39	SMC3	chr18:28638959-28639229	HepG2	liver:	n/a	n/a
40	STAT3	chr18:28630650-28630943	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr18:28630656-28630927	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr18:28630631-28630958	MCF10A-Er-Src	breast:	n/a	n/a
43	ZNF143	chr18:28633602-28633774	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:28627929..28630084-chr18:28631591..28634323,2	MCF-7	breast:
2	chr18:28635379..28636910-chr18:28640103..28642394,2	K562	blood:
3	chr18:28606623..28609017-chr18:28636811..28638702,2	K562	blood:
4	chr18:28627031..28630994-chr18:28632365..28635393,5	K562	blood:
5	chr18:28627195..28629881-chr18:28637008..28639341,2	MCF-7	breast:
6	chr18:28627031..28630994-chr18:28632365..28635393,5	K562	blood:
7	chr18:28632383..28635235-chr18:28637146..28639405,2	K562	blood:
8	chr18:28636549..28638858-chr18:28710603..28713057,2	K562	blood:
9	chr18:28632383..28635379-chr18:28637119..28639405,3	K562	blood:
10	chr18:28626792..28630994-chr18:28631279..28635393,6	K562	blood:
11	chr18:28633421..28635335-chr18:28642535..28645515,2	K562	blood:
12	chr18:28627929..28630084-chr18:28631591..28634323,2	MCF-7	breast:
13	chr18:28627195..28629881-chr18:28637008..28639341,2	MCF-7	breast:
14	chr18:28626792..28630994-chr18:28631279..28635393,6	K562	blood:
15	chr18:28635410..28637896-chr18:28640436..28642394,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSC2-1	chr18:28638806-28639359	ENSG00000261521.1

Variant related genes	Relation type
ENSG00000261521	TF binding region
ENSG00000261521	chromatin interactions
ENSG00000263698	chromatin interactions

Extended variants
information (count: 403 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11662883	chr18:28629839-28629840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112075300	chr18:28629849-28629850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114818995	chr18:28629856-28629857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566818106	chr18:28629875-28629876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113429082	chr18:28629881-28629882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527587549	chr18:28629884-28629885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552046394	chr18:28629947-28629948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139507105	chr18:28629954-28629955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192741786	chr18:28629979-28629980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557462501	chr18:28630074-28630075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182373289	chr18:28630082-28630083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536291518	chr18:28630084-28630085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8089246	chr18:28630114-28630115	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs192696135	chr18:28630118-28630119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540933496	chr18:28630152-28630153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558858773	chr18:28630155-28630156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8089284	chr18:28630196-28630197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8088208	chr18:28630262-28630263	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188873828	chr18:28630303-28630304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574483142	chr18:28630344-28630345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376600564	chr18:28630361-28630362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562064715	chr18:28630362-28630363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377753066	chr18:28630376-28630377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560199764	chr18:28630384-28630385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534767494	chr18:28630410-28630411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8088497	chr18:28630414-28630415	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552473037	chr18:28630415-28630416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113974385	chr18:28630419-28630420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548542394	chr18:28630420-28630421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529155517	chr18:28630437-28630438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143411679	chr18:28630468-28630469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550656903	chr18:28630509-28630510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548600686	chr18:28630635-28630636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147176272	chr18:28630697-28630698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8089107	chr18:28630705-28630706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369283404	chr18:28630719-28630720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs8089351	chr18:28630724-28630725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190250653	chr18:28630827-28630828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568499150	chr18:28630848-28630849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180940829	chr18:28630885-28630886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1595350	chr18:28630904-28630905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559239711	chr18:28630922-28630923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577358866	chr18:28630969-28630970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552660445	chr18:28630998-28630999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538479995	chr18:28631040-28631041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570946653	chr18:28631044-28631045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556799820	chr18:28631053-28631054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139504530	chr18:28631057-28631058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5823780	chr18:28631089-28631090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112518928	chr18:28631105-28631106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28626200-28631200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr18:28627600-28633600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:28629200-28630000	Enhancers	Fetal Heart	heart
4	chr18:28631200-28640400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:28633600-28634000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28633800-28634400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:28634000-28634400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:28634000-28636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:28634400-28636200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:28634400-28641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:28635600-28637000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:28635800-28636600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr18:28635800-28636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr18:28635800-28636800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:28635800-28637200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr18:28635800-28637800	Enhancers	NHEK	skin
17	chr18:28636000-28636800	Enhancers	Fetal Lung	lung
18	chr18:28636000-28637000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr18:28636000-28637000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr18:28636000-28637000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr18:28636000-28637400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr18:28636200-28636400	Enhancers	Fetal Intestine Large	intestine
23	chr18:28636200-28636600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr18:28636200-28636600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr18:28636200-28637200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr18:28636200-28637400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr18:28636400-28645000	Weak transcription	Fetal Intestine Large	intestine
28	chr18:28636600-28640600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:28636600-28644800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:28636600-28645200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:28636800-28637200	Weak transcription	Fetal Lung	lung
32	chr18:28636800-28641800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr18:28637000-28637800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr18:28637000-28643800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr18:28637000-28645000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:28637000-28647400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr18:28637200-28637600	Active TSS	Fetal Brain Male	brain
38	chr18:28637200-28637800	Enhancers	Fetal Lung	lung
39	chr18:28637200-28649000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:28637400-28637800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:28637400-28638400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:28637800-28638000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr18:28637800-28638400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr18:28637800-28641800	Weak transcription	Fetal Lung	lung
45	chr18:28638000-28638200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:28638000-28639400	Enhancers	HepG2	liver
47	chr18:28638000-28647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr18:28638200-28649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:28638400-28639000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:28638400-28645400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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