Variant report

Variant	esv998188
Chromosome Location	chr18:44559112-44560266
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	ELF1	chr18:44559291-44559555	K562	blood:	n/a	chr18:44559446-44559459
2	ELF1	chr18:44559315-44559613	K562	blood:	n/a	chr18:44559446-44559459
3	ZNF143	chr18:44559550-44559689	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
TCEB3C	TF binding region

Extended variants
information (count: 118 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530894075	chr18:44559138-44559139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141215719	chr18:44559140-44559141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565782603	chr18:44559149-44559150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534797719	chr18:44559167-44559168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115810109	chr18:44559170-44559171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568463304	chr18:44559184-44559185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146935586	chr18:44559188-44559189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186796328	chr18:44559208-44559209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577593464	chr18:44559250-44559251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568478868	chr18:44559257-44559258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546568732	chr18:44559264-44559265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116115145	chr18:44559268-44559269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35084651	chr18:44559273-44559274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540675105	chr18:44559277-44559278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561010606	chr18:44559291-44559292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549118422	chr18:44559295-44559296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538195277	chr18:44559302-44559303	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537827227	chr18:44559306-44559307	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs72919298	chr18:44559307-44559308	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140605887	chr18:44559314-44559315	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575247924	chr18:44559318-44559319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs377043836	chr18:44559347-44559348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs199820971	chr18:44559359-44559360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs528436521	chr18:44559377-44559378	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs371842955	chr18:44559379-44559380	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs369675732	chr18:44559382-44559383	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs548311298	chr18:44559385-44559386	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568504684	chr18:44559388-44559389	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs142085771	chr18:44559399-44559400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151143404	chr18:44559433-44559434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs139409659	chr18:44559435-44559436	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557587564	chr18:44559440-44559441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs145144237	chr18:44559445-44559446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375305878	chr18:44559446-44559447	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs202170793	chr18:44559450-44559451	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369001979	chr18:44559463-44559464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147580626	chr18:44559470-44559471	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs192545475	chr18:44559473-44559474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs573481393	chr18:44559475-44559476	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs201659207	chr18:44559482-44559483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs369081623	chr18:44559502-44559503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs574452331	chr18:44559526-44559527	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs543160054	chr18:44559527-44559528	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs577341359	chr18:44559528-44559529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs563131912	chr18:44559538-44559539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142205825	chr18:44559552-44559553	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs377084937	chr18:44559553-44559554	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532133812	chr18:44559557-44559558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545594774	chr18:44559567-44559568	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs149717505	chr18:44559578-44559579	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:44555400-44560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:44555400-44561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:44560000-44560400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:44560000-44560600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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