Variant report

Variant	nsv978576
Chromosome Location	chr18:45144728-45152265
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:45145292-45145356	HepG2	liver:	n/a	n/a
2	CTCF	chr18:45151847-45151865	LNCaP	prostate:	n/a	n/a
3	CTCF	chr18:45145284-45145347	GM12878	blood:	n/a	n/a
4	CTCF	chr18:45145312-45145378	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr18:45145195-45145457	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr18:45145273-45145451	GM12878	blood:	n/a	n/a
7	CTCF	chr18:45145260-45145410	GM12873	blood:	n/a	n/a
8	CTCF	chr18:45145460-45145610	GM12871	blood:	n/a	n/a
9	CTCF	chr18:45145320-45145470	HepG2	liver:	n/a	n/a
10	CTCF	chr18:45145314-45145383	GM19240	blood:	n/a	n/a
11	CTCF	chr18:45151833-45151843	LNCaP	prostate:	n/a	n/a
12	GTF2F1	chr18:45146913-45146933	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr18:45144901-45144921	GM12878	blood:	n/a	n/a
14	POLR2A	chr18:45147994-45148087	GM12878	blood:	n/a	n/a
15	RAD21	chr18:45145190-45145441	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr18:45145194-45145500	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr18:45145206-45145595	H1-hESC	embryonic stem cell:	n/a	n/a
18	SMC3	chr18:45145340-45145404	GM12878	blood:	n/a	n/a
19	SPI1	chr18:45148188-45148360	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:45141679..45143250-chr18:45145971..45148412,2	K562	blood:

No data

Variant related genes	Relation type
TPMTP1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575771569	chr18:45144735-45144736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140680489	chr18:45144746-45144747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558156822	chr18:45144784-45144785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192921164	chr18:45144791-45144792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144388914	chr18:45144796-45144797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560891031	chr18:45144819-45144820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535579988	chr18:45144886-45144887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11663070	chr18:45144903-45144904	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184605775	chr18:45144907-45144908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563770391	chr18:45144925-45144926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145250998	chr18:45144971-45144972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552591817	chr18:45144984-45144985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs118017080	chr18:45144994-45144995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74862382	chr18:45146866-45146867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114813581	chr18:45146868-45146869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544463129	chr18:45146920-45146921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567883636	chr18:45146950-45146951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189820681	chr18:45146972-45146973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145352152	chr18:45151847-45151848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147660410	chr18:45151855-45151856	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45144400-45145000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr18:45146800-45147000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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