Variant report

Variant	nsv917076
Chromosome Location	chr18:44558149-44568902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:1040)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr18:44562609-44562949	HCT-116	colon:	n/a	n/a
2	CTCF	chr18:44562620-44562770	HCM	heart:	n/a	n/a
3	CTCF	chr18:44562760-44562910	GM06990	blood:	n/a	n/a
4	CTCF	chr18:44562764-44562917	GM12892	blood:	n/a	n/a
5	CTCF	chr18:44562780-44562922	GM19239	blood:	n/a	n/a
6	CTCF	chr18:44562740-44562890	NHEK	skin:	n/a	n/a
7	CTCF	chr18:44562775-44562913	GM19240	blood:	n/a	n/a
8	CTCF	chr18:44562702-44562972	MCF-7	breast:	n/a	n/a
9	CTCF	chr18:44562729-44562972	Gliobla	brain:	n/a	n/a
10	CTCF	chr18:44562760-44562910	GM12867	blood:	n/a	n/a
11	CTCF	chr18:44562625-44563075	A549	lung:	n/a	n/a
12	CTCF	chr18:44562747-44562945	ProgFib	skin:	n/a	n/a
13	CTCF	chr18:44562751-44563001	K562	blood:	n/a	n/a
14	CTCF	chr18:44562800-44562950	HVMF	connective:	n/a	n/a
15	CTCF	chr18:44562746-44562962	K562	blood:	n/a	n/a
16	CTCF	chr18:44562780-44562930	HA-sp	spinal cord:	n/a	n/a
17	CTCF	chr18:44562741-44562983	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr18:44562760-44562910	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr18:44562752-44562966	K562	blood:	n/a	n/a
20	CTCF	chr18:44562800-44562950	GM12875	blood:	n/a	n/a
21	CTCF	chr18:44562794-44562903	GM13976	blood:	n/a	n/a
22	CTCF	chr18:44562833-44562863	MCF-7	breast:	n/a	n/a
23	CTCF	chr18:44562720-44562950	HAc	cerebellar:	n/a	n/a
24	CTCF	chr18:44562780-44562930	WI-38	lung:	n/a	n/a
25	CTCF	chr18:44562780-44562930	NB4	blood:	n/a	n/a
26	CTCF	chr18:44562740-44562890	SAEC	small airway:	n/a	n/a
27	CTCF	chr18:44562820-44562970	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr18:44562760-44562910	HAc	cerebellar:	n/a	n/a
29	CTCF	chr18:44561420-44561449	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr18:44562761-44562951	MCF-7	breast:	n/a	n/a
31	CTCF	chr18:44562726-44562993	Medullo	brain:	n/a	n/a
32	CTCF	chr18:44562736-44562968	GM12878	blood:	n/a	n/a
33	CTCF	chr18:44562140-44562290	SAEC	small airway:	n/a	n/a
34	CTCF	chr18:44562758-44562940	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr18:44562760-44562910	AG04450	lung:	n/a	n/a
36	CTCF	chr18:44562643-44563045	K562	blood:	n/a	n/a
37	CTCF	chr18:44562740-44562890	GM12871	blood:	n/a	n/a
38	CTCF	chr18:44562593-44563101	HCT-116	colon:	n/a	n/a
39	CTCF	chr18:44562780-44562930	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr18:44562773-44562909	GM19238	blood:	n/a	n/a
41	CTCF	chr18:44561470-44561480	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr18:44562740-44562890	HRE	kidney:	n/a	n/a
43	CTCF	chr18:44562800-44562950	BJ	skin:	n/a	n/a
44	CTCF	chr18:44562800-44562950	GM12864	blood:	n/a	n/a
45	CTCF	chr18:44562751-44562920	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr18:44562808-44562938	GM20000	blood:	n/a	n/a
47	CTCF	chr18:44562726-44562935	K562	blood:	n/a	n/a
48	CTCF	chr18:44562760-44562910	HepG2	liver:	n/a	n/a
49	CTCF	chr18:44562760-44562910	HVMF	connective:	n/a	n/a
50	CTCF	chr18:44562707-44563011	SK-N-SH_RA	brain:	n/a	n/a

(count:1040 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:44561130-44561180	AG09309	skin:	n/a
2	chr18:44561130-44561180	K562	blood:	n/a
3	chr18:44561130-44561180	ECC-1	luminal epithelium:	n/a
4	chr18:44561130-44561180	AG09309	skin:	n/a
5	chr18:44561130-44561180	K562	blood:	n/a
6	chr18:44561130-44561180	ECC-1	luminal epithelium:	n/a
7	chr18:44561718-44561768	U87	brain:	n/a
8	chr18:44564432-44564482	NT2-D1	testis:	n/a
9	chr18:44562505-44562555	HRE	kidney:	n/a
10	chr18:44562416-44562466	GM06990	blood:	n/a
11	chr18:44562030-44562080	NHBE	bronchial:	n/a
12	chr18:44560277-44560327	HMEC	breast:	n/a
13	chr18:44562030-44562080	NH-A	brain:	n/a
14	chr18:44561385-44561435	U87	brain:	n/a
15	chr18:44562136-44562186	Caco-2	colon:	n/a
16	chr18:44561188-44561238	MCF-7	breast:	n/a
17	chr18:44562056-44562106	HL-60	blood:	n/a
18	chr18:44561130-44561180	Jurkat	blood:	n/a
19	chr18:44562416-44562466	HEEpiC	esophagus:	n/a
20	chr18:44562113-44562163	HCPEpiC	choroid plexus:	n/a
21	chr18:44561130-44561180	GM06990	blood:	n/a
22	chr18:44561130-44561180	SKMC	muscle:	n/a
23	chr18:44561188-44561238	PFSK-1	brain:	n/a
24	chr18:44562505-44562555	HEEpiC	esophagus:	n/a
25	chr18:44561188-44561238	HEK293	kidney:	embryo
26	chr18:44561718-44561768	ECC-1	luminal epithelium:	n/a
27	chr18:44561188-44561238	HNPCEpiC	eye:	n/a
28	chr18:44561718-44561768	NB4	blood:	n/a
29	chr18:44564432-44564482	MCF10A-Er-Src	breast:	n/a
30	chr18:44562113-44562163	LNCaP	prostate:	n/a
31	chr18:44562056-44562106	U87	brain:	n/a
32	chr18:44562063-44562113	NT2-D1	testis:	n/a
33	chr18:44562505-44562555	HCF	heart:	n/a
34	chr18:44562918-44562968	AG04450	lung:	fetal
35	chr18:44562030-44562080	BE2_C	brain:	n/a
36	chr18:44561718-44561768	AoSMC	blood vessel:	n/a
37	chr18:44561188-44561238	NHDF-neo	bronchial:	n/a
38	chr18:44562416-44562466	HepG2	liver:	n/a
39	chr18:44561188-44561238	RPTEC	kidney:	n/a
40	chr18:44562019-44562069	GM12892	blood:	n/a
41	chr18:44562019-44562069	SK-N-SH	brain:	n/a
42	chr18:44561718-44561768	HUVEC	blood vessel:	n/a
43	chr18:44564432-44564482	AG09319	gingival:	n/a
44	chr18:44561725-44561775	AG04450	lung:	fetal
45	chr18:44562136-44562186	GM12878	blood:	n/a
46	chr18:44562416-44562466	HUVEC	blood vessel:	n/a
47	chr18:44562136-44562186	NHDF-neo	bronchial:	n/a
48	chr18:44562063-44562113	HEK293	kidney:	embryo
49	chr18:44560277-44560327	NH-A	brain:	n/a
50	chr18:44561725-44561775	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44529742..44530665-chr18:44562546..44563169,2	MCF-7	breast:

No data

Variant related genes	Relation type
TCEB3B	TF binding region
TCEB3C	TF binding region
TCEB3B	CpG island
TCEB3C	CpG island

Extended variants
information (count: 454 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:454 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371556670	chr18:44558151-44558152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541249083	chr18:44558161-44558162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561376371	chr18:44558181-44558182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533974098	chr18:44558183-44558184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535806593	chr18:44558210-44558211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548693038	chr18:44558212-44558213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111974720	chr18:44558213-44558214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531414806	chr18:44558224-44558225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551538377	chr18:44558243-44558244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189604734	chr18:44558244-44558245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571383296	chr18:44558245-44558246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376675828	chr18:44558260-44558261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183891823	chr18:44558271-44558272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140075516	chr18:44558289-44558290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188898144	chr18:44558306-44558307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536594235	chr18:44558316-44558317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556260324	chr18:44558317-44558318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143619325	chr18:44558327-44558328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538658270	chr18:44558338-44558339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558580827	chr18:44558367-44558368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192987058	chr18:44558375-44558376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371815785	chr18:44558381-44558382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541191610	chr18:44558383-44558384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139207700	chr18:44558386-44558387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575010119	chr18:44558389-44558390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544140856	chr18:44558400-44558401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72919296	chr18:44558445-44558446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546225055	chr18:44558446-44558447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183676101	chr18:44558448-44558449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187287310	chr18:44558477-44558478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564942265	chr18:44558520-44558521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550473183	chr18:44558530-44558531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547256284	chr18:44558551-44558552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567503039	chr18:44558563-44558564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576627872	chr18:44558567-44558568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145001538	chr18:44558598-44558599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73440915	chr18:44558599-44558600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191735624	chr18:44558617-44558618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62095399	chr18:44558624-44558625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558544313	chr18:44558632-44558633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142125018	chr18:44558645-44558646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536129713	chr18:44558680-44558681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554859690	chr18:44558688-44558689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553165534	chr18:44558715-44558716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575015172	chr18:44558772-44558773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144397761	chr18:44558807-44558808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563923116	chr18:44558808-44558809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527911526	chr18:44558828-44558829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577631608	chr18:44558886-44558887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2576050	chr18:44558912-44558913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:13 , 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
8	chr18:44561400-44561600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:44561600-44562000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:44561800-44562000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:44562600-44563200	Enhancers	GM12878-XiMat	blood
12	chr18:44563200-44564000	Flanking Active TSS	GM12878-XiMat	blood
13	chr18:44564000-44564600	Enhancers	GM12878-XiMat	blood

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