Variant report

Variant	nsv533570
Chromosome Location	chr18:44560400-44561897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:44561420-44561449	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr18:44561451-44561458	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr18:44561414-44561427	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr18:44561470-44561480	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr18:44561478-44561563	LNCaP	prostate:	n/a	n/a
6	CTCF	chr18:44561700-44561850	HEK293	kidney:	n/a	n/a
7	ELF1	chr18:44560905-44561196	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44561130-44561180	SAEC	small airway:	n/a
2	chr18:44561130-44561180	SAEC	small airway:	n/a
3	chr18:44561385-44561435	A549	lung:	n/a
4	chr18:44561718-44561768	HCM	heart:	n/a
5	chr18:44561718-44561768	AG09309	skin:	n/a
6	chr18:44561130-44561180	AG09309	skin:	n/a
7	chr18:44561188-44561238	Hela-S3	cervix:	n/a
8	chr18:44561385-44561435	SKMC	muscle:	n/a
9	chr18:44561725-44561775	GM12878	blood:	n/a
10	chr18:44561718-44561768	GM12891	blood:	n/a
11	chr18:44561718-44561768	SK-N-MC	brain:	n/a
12	chr18:44561385-44561435	HCPEpiC	choroid plexus:	n/a
13	chr18:44561725-44561775	ECC-1	luminal epithelium:	n/a
14	chr18:44561130-44561180	HCM	heart:	n/a
15	chr18:44561130-44561180	HEK293	kidney:	embryo
16	chr18:44561718-44561768	NHBE	bronchial:	n/a
17	chr18:44561130-44561180	HPAEpiC	pulmonary alveolar:	n/a
18	chr18:44561188-44561238	LNCaP	prostate:	n/a
19	chr18:44561385-44561435	NT2-D1	testis:	n/a
20	chr18:44561725-44561775	HEEpiC	esophagus:	n/a
21	chr18:44561130-44561180	NHBE	bronchial:	n/a
22	chr18:44561188-44561238	HCPEpiC	choroid plexus:	n/a
23	chr18:44561130-44561180	GM06990	blood:	n/a
24	chr18:44561188-44561238	GM12892	blood:	n/a
25	chr18:44561725-44561775	AG09309	skin:	n/a
26	chr18:44561188-44561238	HIPEpiC	eye:	n/a
27	chr18:44561188-44561238	HMEC	breast:	n/a
28	chr18:44561718-44561768	BE2_C	brain:	n/a
29	chr18:44561385-44561435	T-47D	breast:	n/a
30	chr18:44561718-44561768	SK-N-SH	brain:	n/a
31	chr18:44561718-44561768	ECC-1	luminal epithelium:	n/a
32	chr18:44561130-44561180	ProgFib	skin:	n/a
33	chr18:44561725-44561775	CMK	blood:	n/a
34	chr18:44561385-44561435	AG09319	gingival:	n/a
35	chr18:44561130-44561180	Hela-S3	cervix:	n/a
36	chr18:44561385-44561435	GM06990	blood:	n/a
37	chr18:44561385-44561435	SK-N-SH_RA	brain:	n/a
38	chr18:44561725-44561775	BJ	skin:	n/a
39	chr18:44561385-44561435	HRPEpiC	eye:	n/a
40	chr18:44561385-44561435	NB4	blood:	n/a
41	chr18:44561718-44561768	ProgFib	skin:	n/a
42	chr18:44561130-44561180	GM12892	blood:	n/a
43	chr18:44561130-44561180	HEEpiC	esophagus:	n/a
44	chr18:44561385-44561435	AG04449	skin:	fetal
45	chr18:44561385-44561435	HCT-116	colon:	n/a
46	chr18:44561725-44561775	PFSK-1	brain:	n/a
47	chr18:44561130-44561180	A549	lung:	n/a
48	chr18:44561385-44561435	HRCEpiC	kidney:	n/a
49	chr18:44561130-44561180	HepG2	liver:	n/a
50	chr18:44561725-44561775	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
TCEB3C	TF binding region
TCEB3C	CpG island

Extended variants
information (count: 157 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs267605192	chr18:44560400-44560401	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376811045	chr18:44560417-44560418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs200410999	chr18:44560421-44560422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs892586	chr18:44560429-44560430	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs572912705	chr18:44560430-44560431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147141877	chr18:44560459-44560460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542013113	chr18:44560468-44560469	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138896768	chr18:44560480-44560481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs201080530	chr18:44560492-44560493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369488894	chr18:44560499-44560500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs370499347	chr18:44560503-44560504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374544462	chr18:44560507-44560508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs149697053	chr18:44560520-44560521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111815744	chr18:44560527-44560528	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557919205	chr18:44560529-44560530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144481184	chr18:44560545-44560546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs148463243	chr18:44560553-44560554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142609283	chr18:44560563-44560564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs374300131	chr18:44560569-44560570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371636293	chr18:44560581-44560582	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs146529375	chr18:44560584-44560585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs2571029	chr18:44560590-44560591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs369924578	chr18:44560597-44560598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539553515	chr18:44560606-44560607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372255211	chr18:44560610-44560611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540412608	chr18:44560634-44560635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139970016	chr18:44560672-44560673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375002079	chr18:44560676-44560677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143433389	chr18:44560688-44560689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146549538	chr18:44560693-44560694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377063771	chr18:44560697-44560698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199707362	chr18:44560708-44560709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369739936	chr18:44560716-44560717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140916062	chr18:44560732-44560733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190820484	chr18:44560735-44560736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150224148	chr18:44560752-44560753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569171844	chr18:44560765-44560766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373135969	chr18:44560766-44560767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531913965	chr18:44560767-44560768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145748811	chr18:44560780-44560781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148989408	chr18:44560814-44560815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147087992	chr18:44560823-44560824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200106579	chr18:44560826-44560827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376861883	chr18:44560873-44560874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2010834	chr18:44560875-44560876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs369947014	chr18:44560878-44560879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370832383	chr18:44560890-44560891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535261778	chr18:44560912-44560913	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555572815	chr18:44560918-44560919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201688260	chr18:44560925-44560926	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart
2	chr18:44555400-44561400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:44555400-44563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44560000-44560400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:44560000-44560600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr18:44561400-44561600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44561600-44562000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:44561800-44562000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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