Variant report

Variant	nsv833602
Chromosome Location	chr18:24993030-25180823
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	ARID3A	chr18:25165747-25165828	HepG2	liver:	n/a	n/a
2	ATF1	chr18:25022305-25022445	K562	blood:	n/a	n/a
3	ATF1	chr18:25050948-25051253	K562	blood:	n/a	n/a
4	ATF2	chr18:25141442-25141992	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr18:25180246-25180540	GM12878	blood:	n/a	n/a
6	ATF2	chr18:25180183-25180590	GM12878	blood:	n/a	n/a
7	ATF2	chr18:25141275-25142118	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:25120155-25120388	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr18:25077720-25077810	K562	blood:	n/a	n/a
10	BACH1	chr18:25003448-25003451	K562	blood:	n/a	n/a
11	BACH1	chr18:25071917-25071941	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr18:25180190-25180507	GM12878	blood:	n/a	n/a
13	BCL11A	chr18:25141569-25141880	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr18:25141470-25141849	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr18:25180235-25180598	GM12878	blood:	n/a	n/a
16	BHLHE40	chr18:25165609-25165963	HepG2	liver:	n/a	n/a
17	BHLHE40	chr18:25042021-25042178	K562	blood:	n/a	n/a
18	BHLHE40	chr18:25179220-25179523	GM12878	blood:	n/a	n/a
19	BHLHE40	chr18:25028034-25028066	GM12878	blood:	n/a	n/a
20	CEBPB	chr18:25142841-25143041	A549	lung:	n/a	n/a
21	CEBPB	chr18:25130088-25130292	IMR90	lung:	n/a	chr18:25130192-25130203
22	CEBPB	chr18:25161441-25161647	A549	lung:	n/a	chr18:25161520-25161531
23	CEBPB	chr18:25161359-25161668	HepG2	liver:	n/a	chr18:25161520-25161531
24	CEBPB	chr18:25163495-25163805	HepG2	liver:	n/a	chr18:25163649-25163660
25	CEBPB	chr18:25159488-25159646	HepG2	liver:	n/a	chr18:25159499-25159510
26	CEBPB	chr18:25102048-25102159	HepG2	liver:	n/a	chr18:25102057-25102068
27	CEBPB	chr18:25165601-25165903	HepG2	liver:	n/a	n/a
28	CEBPB	chr18:25102037-25102101	K562	blood:	n/a	chr18:25102057-25102068
29	CEBPB	chr18:25171972-25172264	HepG2	liver:	n/a	chr18:25172084-25172095
30	CEBPB	chr18:25161519-25161699	H1-hESC	embryonic stem cell:	n/a	chr18:25161520-25161531
31	CEBPB	chr18:25130054-25130349	HepG2	liver:	n/a	chr18:25130192-25130203
32	CEBPB	chr18:25148624-25148824	H1-hESC	embryonic stem cell:	n/a	chr18:25148760-25148777 chr18:25148625-25148638
33	CEBPB	chr18:25179256-25179542	H1-hESC	embryonic stem cell:	n/a	chr18:25179480-25179493
34	CEBPB	chr18:25165671-25165808	HepG2	liver:	n/a	n/a
35	CHD1	chr18:25161359-25161404	GM12878	blood:	n/a	n/a
36	CHD2	chr18:25141499-25142102	H1-hESC	embryonic stem cell:	n/a	chr18:25142087-25142097
37	CHD2	chr18:25050236-25050311	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr18:25071836-25071868	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr18:25141391-25142050	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr18:25008100-25008250	MCF-7	breast:	n/a	n/a
41	CTCF	chr18:25179281-25179486	H1-hESC	embryonic stem cell:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376
42	CTCF	chr18:25179280-25179430	NHEK	skin:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376
43	CTCF	chr18:25179300-25179450	GM12871	blood:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376
44	CTCF	chr18:25179720-25179870	HCFaa	heart:	n/a	n/a
45	CTCF	chr18:25179300-25179450	GM12869	blood:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376
46	CTCF	chr18:25179124-25179469	MCF-7	breast:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376
47	CTCF	chr18:25179940-25180090	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr18:25008220-25008370	HAc	cerebellar:	n/a	n/a
49	CTCF	chr18:25129520-25129670	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr18:25179300-25179450	GM12866	blood:	n/a	chr18:25179359-25179375 chr18:25179365-25179372 chr18:25179353-25179374 chr18:25179358-25179376

No.	Distal block	Cell Line	Cell type
1	chr18:24943983..24944563-chr18:25178918..25179433,2	MCF-7	breast:
2	chr18:24943676..24944460-chr18:25007824..25008627,3	MCF-7	breast:
3	chr18:25069473..25070359-chr5:103536312..103537041,2	MCF-7	breast:
4	chr18:25162684..25164413-chr18:25168896..25171426,2	MCF-7	breast:
5	chr18:24943675..24944656-chr18:25178856..25179868,5	MCF-7	breast:
6	chr18:25060579..25062895-chr18:25064603..25067042,2	K562	blood:
7	chr18:25023772..25025471-chr18:25027335..25029107,2	K562	blood:
8	chr18:25023772..25025471-chr18:25027335..25029107,2	K562	blood:
9	chr18:25045399..25047199-chr18:25047889..25050274,2	K562	blood:
10	chr18:25045399..25047199-chr18:25047889..25050274,2	K562	blood:
11	chr18:25162684..25164413-chr18:25168896..25171426,2	MCF-7	breast:
12	chr18:25060579..25062895-chr18:25064603..25067042,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH2-2	chr18:25174914-25174999	ENSG00000264151.1
2	lnc-CDH2-2	chr18:25081643-25081829	ENSG00000264151.1
3	lnc-CDH2-2	chr18:25172672-25172838	ENSG00000264151.1
4	lnc-CDH2-2	chr18:25174914-25175128	ENSG00000264151.1
5	lnc-CDH2-2	chr18:25161935-25161979	ENSG00000264151.1
6	lnc-CDH2-2	chr18:25161935-25161979	ENSG00000264151.1
7	lnc-CHST9-5	chr18:24999586-25000399	NONHSAT058778
8	lnc-CHST9-5	chr18:24998848-24999247	NONHSAT058778
9	lnc-CDH2-2	chr18:25158820-25159037	ENSG00000264151.1

Variant related genes	Relation type
ENSG00000264151	TF binding region
PA2G4P3	TF binding region
RBM22P1	TF binding region

Extended variants
information (count: 4486 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4486 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371577159	chr18:24993043-24993044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562122194	chr18:24993112-24993113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183635268	chr18:24993130-24993131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541526163	chr18:24993200-24993201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560218378	chr18:24993281-24993282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527240714	chr18:24993300-24993301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552213676	chr18:24993303-24993304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79699502	chr18:24993386-24993387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398059114	chr18:24993391-24993392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1474127	chr18:24993414-24993415	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531613483	chr18:24993483-24993484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569780986	chr18:24993510-24993511	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537171715	chr18:24993577-24993578	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs550132171	chr18:24993618-24993619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533070820	chr18:24993627-24993628	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139628649	chr18:24993628-24993629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs150733995	chr18:24993644-24993645	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188572033	chr18:24993658-24993659	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369354386	chr18:24993705-24993706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs193229828	chr18:24993760-24993761	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566172869	chr18:24993784-24993785	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs116726579	chr18:24993843-24993844	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557726627	chr18:24993870-24993871	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556452402	chr18:24993916-24993917	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs139060205	chr18:24993930-24993931	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149876860	chr18:24993972-24993973	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs556041886	chr18:24994017-24994018	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542435310	chr18:24994031-24994032	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185041731	chr18:24994048-24994049	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1105237	chr18:24994052-24994053	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs559954315	chr18:24994072-24994073	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572163790	chr18:24994098-24994099	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186651863	chr18:24994103-24994104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146643130	chr18:24994107-24994108	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531346179	chr18:24994134-24994135	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549776709	chr18:24994176-24994177	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572549525	chr18:24994188-24994189	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191504068	chr18:24994193-24994194	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529039575	chr18:24994203-24994204	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578250207	chr18:24994291-24994292	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538595759	chr18:24994292-24994293	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557009864	chr18:24994348-24994349	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113178662	chr18:24994390-24994391	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183983023	chr18:24994419-24994420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs111480661	chr18:24994420-24994421	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189882409	chr18:24994422-24994423	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs375575504	chr18:24994425-24994426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545986718	chr18:24994454-24994455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs35729784	chr18:24994458-24994459	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181430476	chr18:24994467-24994468	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
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
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
Sudden cardiac death	19188705	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
Acute myeloid leukemia	19651600	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24989200-24993800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr18:24989600-24993800	Weak transcription	Psoas Muscle	Psoas
3	chr18:24990800-24993400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:24991200-24993800	Weak transcription	Adipose Nuclei	Adipose
5	chr18:24991800-24993600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:24991800-24994200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:24992000-24994600	Enhancers	HSMM	muscle
8	chr18:24992200-24993600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:24992400-24993400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:24992400-24993400	Weak transcription	NH-A	brain
11	chr18:24992600-24993800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:24992600-24993800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:24992800-24993200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:24992800-24994000	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:24993000-24993400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:24993000-24993800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:24993000-24994600	Enhancers	Colon Smooth Muscle	Colon
18	chr18:24993200-24993800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr18:24993400-24993600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr18:24993400-24993600	Weak transcription	Fetal Kidney	kidney
21	chr18:24993400-24993800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:24993400-24994000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr18:24993400-24994400	Enhancers	NH-A	brain
24	chr18:24993400-24994600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr18:24993400-24994600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr18:24993400-24995000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr18:24993400-24995000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr18:24993600-24993800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr18:24993600-24993800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr18:24993600-24994000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:24993600-24994200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:24993600-24994400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr18:24993600-24994400	Enhancers	Rectal Smooth Muscle	rectum
34	chr18:24993600-24994600	Enhancers	HSMMtube	muscle
35	chr18:24993600-24995800	Enhancers	Fetal Kidney	kidney
36	chr18:24993800-24994000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:24993800-24994000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr18:24993800-24994000	Enhancers	Brain Substantia Nigra	brain
39	chr18:24993800-24994000	Active TSS	Psoas Muscle	Psoas
40	chr18:24993800-24994200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr18:24993800-24994200	Enhancers	Fetal Stomach	stomach
42	chr18:24993800-24994400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr18:24993800-24994400	Enhancers	Brain Hippocampus Middle	brain
44	chr18:24993800-24994600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:24993800-24994600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:24993800-24994600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr18:24993800-24994800	Enhancers	Adipose Nuclei	Adipose
48	chr18:24993800-24995000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr18:24993800-24995000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr18:24993800-24995000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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