Variant report

Variant	nsv961033
Chromosome Location	chr18:14838212-14874870
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:14862986-14863306	HepG2	liver:	n/a	chr18:14863142-14863153
2	CEBPB	chr18:14863002-14863315	A549	lung:	n/a	chr18:14863142-14863153
3	CEBPB	chr18:14862997-14863319	IMR90	lung:	n/a	chr18:14863142-14863153
4	CEBPB	chr18:14863040-14863238	Hela-S3	cervix:	n/a	chr18:14863142-14863153
5	CTCF	chr18:14865985-14866035	GM10248	blood:	n/a	n/a
6	CTCF	chr18:14868207-14868300	GM10248	blood:	n/a	n/a
7	CTCF	chr18:14868960-14869110	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr18:14868959-14869066	MCF-7	breast:	n/a	n/a
9	CTCF	chr18:14868920-14869070	AG09319	gingival:	n/a	n/a
10	CTCF	chr18:14868973-14869042	HepG2	liver:	n/a	n/a
11	CTCF	chr18:14840799-14840888	Medullo	brain:	n/a	n/a
12	CTCF	chr18:14868940-14869090	AG04450	lung:	n/a	n/a
13	CTCF	chr18:14870224-14870313	LNCaP	prostate:	n/a	n/a
14	CTCF	chr18:14868940-14869090	HL-60	blood:	n/a	n/a
15	CTCF	chr18:14868900-14869050	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr18:14870824-14870909	GM13976	blood:	n/a	n/a
17	CTCF	chr18:14868680-14868830	MCF-7	breast:	n/a	n/a
18	CTCF	chr18:14856512-14856616	GM13976	blood:	n/a	n/a
19	CTCF	chr18:14868920-14869070	AG10803	skin:	n/a	n/a
20	CTCF	chr18:14868960-14869110	NB4	blood:	n/a	n/a
21	CTCF	chr18:14868900-14869050	GM12864	blood:	n/a	n/a
22	CTCF	chr18:14868913-14869093	Gliobla	brain:	n/a	n/a
23	CTCF	chr18:14868940-14869090	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr18:14868932-14869081	MCF-7	breast:	n/a	n/a
25	CTCF	chr18:14868973-14869040	ProgFib	skin:	n/a	n/a
26	CTCF	chr18:14861545-14861601	Pancreas_OC	pancreas:	n/a	n/a
27	CTCF	chr18:14869080-14869230	AG09319	gingival:	n/a	n/a
28	CTCF	chr18:14868920-14869070	HCFaa	heart:	n/a	n/a
29	CTCF	chr18:14872598-14872678	GM13976	blood:	n/a	n/a
30	CTCF	chr18:14868113-14868143	LNCaP	prostate:	n/a	n/a
31	CTCF	chr18:14868940-14869090	HEK293	kidney:	n/a	n/a
32	CTCF	chr18:14868940-14869090	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr18:14841354-14841383	GM13976	blood:	n/a	n/a
34	CTCF	chr18:14868920-14869070	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr18:14869000-14869150	HepG2	liver:	n/a	n/a
36	CTCF	chr18:14868940-14869090	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr18:14868920-14869070	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr18:14848884-14848945	Medullo	brain:	n/a	n/a
39	CTCF	chr18:14868915-14869165	LNCaP	prostate:	n/a	n/a
40	CTCF	chr18:14868940-14869090	AG10803	skin:	n/a	n/a
41	CTCF	chr18:14853201-14853255	GM10248	blood:	n/a	n/a
42	CTCF	chr18:14868940-14869090	HPF	lung:	n/a	n/a
43	CTCF	chr18:14862731-14862748	LNCaP	prostate:	n/a	n/a
44	CTCF	chr18:14874639-14874694	GM13976	blood:	n/a	n/a
45	CTCF	chr18:14868940-14869090	AG09319	gingival:	n/a	n/a
46	CTCF	chr18:14868920-14869070	HAc	cerebellar:	n/a	n/a
47	CTCF	chr18:14868940-14869090	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr18:14868960-14869110	MCF-7	breast:	n/a	n/a
49	CTCF	chr18:14868892-14869137	LNCaP	prostate:	n/a	n/a
50	CTCF	chr18:14848320-14848408	Spleen_OC	spleen:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000265786	TF binding region

Extended variants
information (count: 915 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556605478	chr18:14838251-14838252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144365765	chr18:14838271-14838272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576469832	chr18:14838281-14838282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545505709	chr18:14838317-14838318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200940516	chr18:14838346-14838347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9797358	chr18:14838475-14838476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572632993	chr18:14838488-14838489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377396575	chr18:14838514-14838515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180959885	chr18:14838520-14838521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2487166	chr18:14838523-14838524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71350532	chr18:14838556-14838557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561291122	chr18:14838589-14838590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71350533	chr18:14838654-14838655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375472696	chr18:14838687-14838688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574793303	chr18:14838724-14838725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199894821	chr18:14838739-14838740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115311223	chr18:14838758-14838759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2994495	chr18:14838759-14838760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376974555	chr18:14838784-14838785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543676652	chr18:14838787-14838788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562168513	chr18:14838795-14838796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148680829	chr18:14838801-14838802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71350534	chr18:14838821-14838822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74173718	chr18:14838904-14838905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2487171	chr18:14838906-14838907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs17842635	chr18:14838909-14838910	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185866101	chr18:14838911-14838912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190921440	chr18:14838941-14838942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71350535	chr18:14838952-14838953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139044716	chr18:14838991-14838992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567428904	chr18:14839032-14839033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71369844	chr18:14839033-14839034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2487172	chr18:14839102-14839103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536565549	chr18:14839111-14839112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs71350536	chr18:14839112-14839113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71350537	chr18:14839119-14839120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145119694	chr18:14839120-14839121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570092713	chr18:14839124-14839125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147600717	chr18:14839167-14839168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559047629	chr18:14839183-14839184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368083870	chr18:14839186-14839187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572442585	chr18:14839200-14839201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2487173	chr18:14839201-14839202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535068159	chr18:14839279-14839280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs71350538	chr18:14839282-14839283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554760287	chr18:14839300-14839301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574666371	chr18:14839317-14839318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543735186	chr18:14839320-14839321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369022587	chr18:14839328-14839329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576031440	chr18:14839345-14839346	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	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
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14828200-14838800	Weak transcription	Osteobl	bone
2	chr18:14838800-14839600	Enhancers	Osteobl	bone
3	chr18:14839000-14841800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14839400-14841800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:14839600-14840400	Weak transcription	Osteobl	bone
6	chr18:14840200-14841000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr18:14840400-14841800	Enhancers	Osteobl	bone
8	chr18:14841800-14842600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:14841800-14852000	Weak transcription	Osteobl	bone
10	chr18:14842600-14842800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:14842800-14843200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:14844600-14844800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:14848200-14851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:14850600-14851200	Enhancers	Dnd41	blood
15	chr18:14850800-14852600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:14851000-14851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:14851200-14851600	Flanking Active TSS	Dnd41	blood
18	chr18:14851200-14851800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:14851600-14852600	Active TSS	Duodenum Mucosa	Duodenum
20	chr18:14851600-14852600	Active TSS	Dnd41	blood
21	chr18:14851800-14852400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr18:14851800-14852600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:14852000-14852400	Active TSS	Osteobl	bone
24	chr18:14852600-14853400	Weak transcription	Dnd41	blood
25	chr18:14853400-14854000	Enhancers	Dnd41	blood
26	chr18:14853600-14853800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr18:14860200-14860400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:14860600-14861000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:14865200-14866400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr18:14866400-14867000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:14866400-14867400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:14868600-14869200	Enhancers	Osteobl	bone

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