Variant report

Variant	nsv519734
Chromosome Location	chr18:28707415-28721534
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	BHLHE40	chr18:28715199-28715324	K562	blood:	n/a	n/a
2	BHLHE40	chr18:28709551-28709585	K562	blood:	n/a	n/a
3	CCNT2	chr18:28709473-28709866	K562	blood:	n/a	n/a
4	CEBPB	chr18:28714971-28715302	HepG2	liver:	n/a	chr18:28715120-28715131 chr18:28715120-28715133
5	CEBPB	chr18:28714979-28715292	K562	blood:	n/a	chr18:28715120-28715131 chr18:28715120-28715133
6	CEBPB	chr18:28715050-28715275	H1-hESC	embryonic stem cell:	n/a	chr18:28715120-28715131 chr18:28715120-28715133
7	CHD2	chr18:28720746-28721093	K562	blood:	n/a	n/a
8	EP300	chr18:28709540-28709688	K562	blood:	n/a	n/a
9	FAM48A	chr18:28711882-28711966	GM12878	blood:	n/a	n/a
10	GATA2	chr18:28709418-28709669	K562	blood:	n/a	n/a
11	GATA3	chr18:28707788-28708135	SH-SY5Y	brain:	n/a	chr18:28707999-28708020 chr18:28708001-28708017 chr18:28708006-28708013 chr18:28708006-28708013 chr18:28708006-28708013
12	HEY1	chr18:28720892-28721113	K562	blood:	n/a	n/a
13	HEY1	chr18:28720830-28721176	K562	blood:	n/a	n/a
14	JUND	chr18:28715188-28715365	K562	blood:	n/a	n/a
15	MAFF	chr18:28715195-28715329	K562	blood:	n/a	n/a
16	MAZ	chr18:28715134-28715334	K562	blood:	n/a	n/a
17	MYC	chr18:28709380-28709545	K562	blood:	n/a	n/a
18	MYC	chr18:28715078-28715349	K562	blood:	n/a	chr18:28715123-28715132
19	POLR2A	chr18:28713634-28713844	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr18:28717587-28717608	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr18:28719653-28719715	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr18:28711609-28711615	A549	lung:	n/a	n/a
23	POLR2A	chr18:28717620-28718073	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr18:28709434-28709668	K562	blood:	n/a	n/a
25	RCOR1	chr18:28709441-28709997	K562	blood:	n/a	n/a
26	RCOR1	chr18:28715261-28715402	K562	blood:	n/a	n/a
27	RCOR1	chr18:28709455-28709924	K562	blood:	n/a	n/a
28	RCOR1	chr18:28712505-28712523	GM12878	blood:	n/a	n/a
29	SIN3A	chr18:28717761-28717768	H1-hESC	embryonic stem cell:	n/a	n/a
30	STAT5A	chr18:28709406-28709783	K562	blood:	n/a	n/a
31	TAL1	chr18:28709393-28709765	K562	blood:	n/a	n/a
32	TBP	chr18:28720795-28721055	K562	blood:	n/a	n/a
33	TEAD4	chr18:28709396-28709775	K562	blood:	n/a	n/a
34	TEAD4	chr18:28709393-28709654	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:28707023..28709640-chr18:28710441..28712736,2	K562	blood:

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

Extended variants
information (count: 570 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8086137	chr18:28707415-28707416	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558630778	chr18:28707433-28707434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529239521	chr18:28707444-28707445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373186582	chr18:28707460-28707461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs151311206	chr18:28707495-28707496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188455643	chr18:28707539-28707540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148268107	chr18:28707541-28707542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565759408	chr18:28707602-28707603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4799565	chr18:28707677-28707678	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs75714453	chr18:28707691-28707692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148379709	chr18:28707713-28707714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs192684006	chr18:28707728-28707729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs185434360	chr18:28707732-28707733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535575291	chr18:28707754-28707755	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs574468131	chr18:28707776-28707777	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534625987	chr18:28707810-28707811	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553102151	chr18:28707839-28707840	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188299544	chr18:28707854-28707855	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554409657	chr18:28707867-28707868	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572561120	chr18:28707958-28707959	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369473373	chr18:28707996-28707997	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546330629	chr18:28708055-28708056	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115509491	chr18:28708126-28708127	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78958637	chr18:28708192-28708193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141551442	chr18:28708196-28708197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1036523	chr18:28708216-28708217	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150904731	chr18:28708287-28708288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35439493	chr18:28708330-28708331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2156761	chr18:28708361-28708362	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191985359	chr18:28708373-28708374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs541354831	chr18:28708414-28708415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559561291	chr18:28708483-28708484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs184730986	chr18:28708517-28708518	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189133697	chr18:28708521-28708522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553578429	chr18:28708609-28708610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs377169545	chr18:28708785-28708786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181011431	chr18:28708828-28708829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569733609	chr18:28708853-28708854	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555783882	chr18:28708857-28708858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549833355	chr18:28708874-28708875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs568128591	chr18:28708903-28708904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116366257	chr18:28708910-28708911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs554171311	chr18:28708942-28708943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184301738	chr18:28708967-28708968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539735408	chr18:28708974-28708975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558364626	chr18:28708980-28708981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569360034	chr18:28708981-28708982	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561093833	chr18:28709045-28709046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576688576	chr18:28709095-28709096	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs543566278	chr18:28709151-28709152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28703200-28708200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:28706600-28709400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:28709400-28710400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:28709600-28710600	Enhancers	Right Ventricle	heart
5	chr18:28710400-28711200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:28710600-28740800	Weak transcription	Primary T cells from cord blood	blood
7	chr18:28711200-28712600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:28712600-28726200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:28714600-28715000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr18:28715000-28717400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:28717400-28717800	Enhancers	Placenta Amnion	Placenta Amnion

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