Variant report

Variant	nsv960273
Chromosome Location	chr18:29335837-29340794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:29340494-29340559	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr18:29339689-29339774	LNCaP	prostate:	n/a	n/a
3	CTCF	chr18:29337676-29337781	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr18:29339345-29339445	GM10266	blood:	n/a	n/a
5	HMGN3	chr18:29340760-29340943	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:29340788-29340838	HCM	heart:	n/a
2	chr18:29340788-29340838	Caco-2	colon:	n/a
3	chr18:29340788-29340838	ovcar-3	ovarian:	n/a
4	chr18:29340788-29340838	HEK293	kidney:	embryo
5	chr18:29340788-29340838	GM12891	blood:	n/a
6	chr18:29340788-29340838	HRCEpiC	kidney:	n/a
7	chr18:29340788-29340838	HAEpiC	amniotic membrane:	n/a
8	chr18:29340788-29340838	HRPEpiC	eye:	n/a
9	chr18:29340788-29340838	NT2-D1	testis:	n/a
10	chr18:29340788-29340838	HCT-116	colon:	n/a
11	chr18:29340788-29340838	MCF10A-Er-Src	breast:	n/a
12	chr18:29340788-29340838	AoSMC	blood vessel:	n/a
13	chr18:29340788-29340838	IMR90	lung:	fetal
14	chr18:29340788-29340838	HepG2	liver:	n/a
15	chr18:29340788-29340838	PFSK-1	brain:	n/a
16	chr18:29340788-29340838	ECC-1	luminal epithelium:	n/a
17	chr18:29340788-29340838	U87	brain:	n/a
18	chr18:29340788-29340838	HPAEpiC	pulmonary alveolar:	n/a
19	chr18:29340788-29340838	AG10803	skin:	n/a
20	chr18:29340788-29340838	HCF	heart:	n/a
21	chr18:29340788-29340838	SK-N-MC	brain:	n/a
22	chr18:29340788-29340838	HNPCEpiC	eye:	n/a
23	chr18:29340788-29340838	HCPEpiC	choroid plexus:	n/a
24	chr18:29340788-29340838	SK-N-SH_RA	brain:	n/a
25	chr18:29340788-29340838	SKMC	muscle:	n/a
26	chr18:29340788-29340838	HMEC	breast:	n/a
27	chr18:29340788-29340838	H1-hESC	embryonic stem cell:	embryo
28	chr18:29340788-29340838	AG09309	skin:	n/a
29	chr18:29340788-29340838	HUVEC	blood vessel:	n/a
30	chr18:29340788-29340838	RPTEC	kidney:	n/a
31	chr18:29340788-29340838	HL-60	blood:	n/a
32	chr18:29340788-29340838	GM06990	blood:	n/a
33	chr18:29340788-29340838	GM19239	blood:	n/a
34	chr18:29340788-29340838	SK-N-SH	brain:	n/a
35	chr18:29340788-29340838	AG09319	gingival:	n/a
36	chr18:29340788-29340838	GM12892	blood:	n/a
37	chr18:29340788-29340838	T-47D	breast:	n/a
38	chr18:29340788-29340838	HEEpiC	esophagus:	n/a
39	chr18:29340788-29340838	BE2_C	brain:	n/a
40	chr18:29340788-29340838	NH-A	brain:	n/a
41	chr18:29340788-29340838	BJ	skin:	n/a
42	chr18:29340788-29340838	ProgFib	skin:	n/a
43	chr18:29340788-29340838	HRE	kidney:	n/a
44	chr18:29340788-29340838	AG04450	lung:	fetal
45	chr18:29340788-29340838	AG04449	skin:	fetal
46	chr18:29340788-29340838	K562	blood:	n/a
47	chr18:29340788-29340838	NHBE	bronchial:	n/a
48	chr18:29340788-29340838	Jurkat	blood:	n/a
49	chr18:29340788-29340838	PANC-1	pancreas:	n/a
50	chr18:29340788-29340838	Hepatocyte	liver:	n/a

No data

Variant related genes	Relation type
SLC25A52	TF binding region
SLC25A52	CpG island

Extended variants
information (count: 218 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61354894	chr18:29335863-29335864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs58349569	chr18:29335868-29335869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138056688	chr18:29335917-29335918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574581304	chr18:29335941-29335942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374941286	chr18:29335966-29335967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189477507	chr18:29335968-29335969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541066933	chr18:29335976-29335977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542074790	chr18:29335978-29335979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559756909	chr18:29335984-29335985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142530043	chr18:29335991-29335992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375251104	chr18:29335992-29335993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201886639	chr18:29336023-29336024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs59515361	chr18:29336025-29336026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56033899	chr18:29336105-29336106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545220687	chr18:29336193-29336194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56352737	chr18:29336213-29336214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530742279	chr18:29336239-29336240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542879345	chr18:29336255-29336256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546102100	chr18:29336279-29336280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561030562	chr18:29336303-29336304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115368181	chr18:29336424-29336425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115776489	chr18:29336428-29336429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571008671	chr18:29336445-29336446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532107670	chr18:29336465-29336466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144888938	chr18:29336466-29336467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114528045	chr18:29336497-29336498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537266498	chr18:29336536-29336537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555978495	chr18:29336555-29336556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567870924	chr18:29336583-29336584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535007688	chr18:29336590-29336591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10502575	chr18:29336591-29336592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
32	rs578127813	chr18:29336597-29336598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542228429	chr18:29336600-29336601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193200973	chr18:29336619-29336620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575350649	chr18:29336644-29336645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542468164	chr18:29336665-29336666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138744448	chr18:29336670-29336671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528424829	chr18:29336691-29336692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540206486	chr18:29336695-29336696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12456474	chr18:29336709-29336710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531992887	chr18:29336736-29336737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185128527	chr18:29336737-29336738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544046453	chr18:29336796-29336797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370011413	chr18:29336831-29336832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113135009	chr18:29336832-29336833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531090991	chr18:29336868-29336869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552724365	chr18:29336876-29336877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549351480	chr18:29336902-29336903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150207604	chr18:29336911-29336912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535035337	chr18:29336924-29336925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29321400-29353800	Weak transcription	Liver	Liver
2	chr18:29338200-29338400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29338800-29339400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29338800-29339800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:29339000-29339200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:29340400-29341200	Bivalent/Poised TSS	K562	blood

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