Variant report

Variant	nsv1066881
Chromosome Location	chr18:29149752-29180840
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	chr18:29176005-29176447	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:29166577-29167110	HepG2	liver:	n/a	chr18:29166636-29166652
3	ARID3A	chr18:29167488-29167920	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:29175473-29175517	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:29171157-29172132	HepG2	liver:	n/a	n/a
6	CEBPB	chr18:29153010-29153359	HepG2	liver:	n/a	chr18:29153159-29153170 chr18:29153158-29153171
7	CEBPB	chr18:29154433-29154633	K562	blood:	n/a	n/a
8	CEBPB	chr18:29161493-29161718	HepG2	liver:	n/a	n/a
9	CEBPB	chr18:29153100-29153223	HepG2	liver:	n/a	chr18:29153159-29153170 chr18:29153158-29153171
10	CEBPB	chr18:29167526-29167879	HepG2	liver:	n/a	n/a
11	CEBPB	chr18:29153000-29153358	HepG2	liver:	n/a	chr18:29153159-29153170 chr18:29153158-29153171
12	CEBPB	chr18:29163219-29163456	HepG2	liver:	n/a	chr18:29163337-29163348 chr18:29163335-29163346 chr18:29163335-29163348
13	CEBPB	chr18:29157568-29157795	HepG2	liver:	n/a	n/a
14	CEBPB	chr18:29163156-29163514	HepG2	liver:	n/a	chr18:29163337-29163348 chr18:29163335-29163346 chr18:29163335-29163348
15	CEBPD	chr18:29171699-29171999	HepG2	liver:	n/a	n/a
16	CEBPD	chr18:29171661-29171985	HepG2	liver:	n/a	n/a
17	CHD2	chr18:29157750-29157892	K562	blood:	n/a	n/a
18	CTCF	chr18:29161681-29161703	GM20000	blood:	n/a	n/a
19	CTCF	chr18:29150521-29150607	LNCaP	prostate:	n/a	n/a
20	CTCF	chr18:29153810-29153886	GM13976	blood:	n/a	n/a
21	CTCF	chr18:29177707-29177797	LNCaP	prostate:	n/a	n/a
22	CTCF	chr18:29153483-29153503	GM10248	blood:	n/a	n/a
23	CTCF	chr18:29180320-29180470	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr18:29160880-29161030	GM12867	blood:	n/a	n/a
25	E2F4	chr18:29179899-29179999	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr18:29157151-29157506	GM12878	blood:	n/a	chr18:29157383-29157394 chr18:29157481-29157490
27	EBF1	chr18:29157178-29157504	GM12878	blood:	n/a	chr18:29157383-29157394 chr18:29157481-29157490
28	EBF1	chr18:29157231-29157556	GM12878	blood:	n/a	chr18:29157383-29157394 chr18:29157481-29157490
29	ELF1	chr18:29163293-29163498	HepG2	liver:	n/a	n/a
30	ELK1	chr18:29165906-29165916	K562	blood:	n/a	n/a
31	EP300	chr18:29161427-29161743	HepG2	liver:	n/a	n/a
32	EP300	chr18:29175951-29176380	SK-N-SH	brain:	n/a	n/a
33	EP300	chr18:29161264-29161269	HepG2	liver:	n/a	n/a
34	EP300	chr18:29171534-29171932	HepG2	liver:	n/a	n/a
35	EP300	chr18:29161672-29162235	SK-N-SH	brain:	n/a	n/a
36	EP300	chr18:29176078-29176431	HepG2	liver:	n/a	chr18:29176414-29176423
37	EP300	chr18:29163179-29163688	HepG2	liver:	n/a	n/a
38	EP300	chr18:29175903-29176372	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr18:29167465-29167861	HepG2	liver:	n/a	n/a
40	EP300	chr18:29175760-29176495	SK-N-SH	brain:	n/a	chr18:29176414-29176423
41	EP300	chr18:29176078-29176478	HepG2	liver:	n/a	chr18:29176414-29176423
42	EP300	chr18:29167432-29167960	HepG2	liver:	n/a	n/a
43	EP300	chr18:29167403-29167926	HepG2	liver:	n/a	n/a
44	EP300	chr18:29171459-29171985	HepG2	liver:	n/a	n/a
45	EP300	chr18:29156295-29156423	K562	blood:	n/a	chr18:29156386-29156395
46	EP300	chr18:29171462-29172038	HepG2	liver:	n/a	n/a
47	EP300	chr18:29176084-29176420	HepG2	liver:	n/a	n/a
48	EP300	chr18:29175136-29176572	SK-N-SH	brain:	n/a	chr18:29176414-29176423
49	EP300	chr18:29175936-29176306	SK-N-SH_RA	brain:	n/a	n/a
50	FAM48A	chr18:29167493-29167693	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:29171977-29172027	MCF-7	breast:	n/a
2	chr18:29171977-29172027	MCF-7	breast:	n/a
3	chr18:29170928-29170978	HRCEpiC	kidney:	n/a
4	chr18:29170928-29170978	HCT-116	colon:	n/a
5	chr18:29171977-29172027	NB4	blood:	n/a
6	chr18:29171977-29172027	GM19239	blood:	n/a
7	chr18:29171878-29171928	Caco-2	colon:	n/a
8	chr18:29171878-29171928	HRPEpiC	eye:	n/a
9	chr18:29178454-29178504	Hela-S3	cervix:	n/a
10	chr18:29171545-29171595	SK-N-SH_RA	brain:	n/a
11	chr18:29170604-29170654	HRCEpiC	kidney:	n/a
12	chr18:29170928-29170978	SK-N-SH	brain:	n/a
13	chr18:29178942-29178992	HEK293	kidney:	embryo
14	chr18:29170604-29170654	MCF10A-Er-Src	breast:	n/a
15	chr18:29171545-29171595	K562	blood:	n/a
16	chr18:29178454-29178504	AG04449	skin:	fetal
17	chr18:29178454-29178504	HCPEpiC	choroid plexus:	n/a
18	chr18:29170928-29170978	GM12891	blood:	n/a
19	chr18:29170604-29170654	HCT-116	colon:	n/a
20	chr18:29171545-29171595	HAEpiC	amniotic membrane:	n/a
21	chr18:29178942-29178992	PrEC	prostate:	n/a
22	chr18:29170604-29170654	SAEC	small airway:	n/a
23	chr18:29171878-29171928	AG04449	skin:	fetal
24	chr18:29178942-29178992	SK-N-MC	brain:	n/a
25	chr18:29178942-29178992	NHDF-neo	bronchial:	n/a
26	chr18:29171878-29171928	SAEC	small airway:	n/a
27	chr18:29170604-29170654	HPAEpiC	pulmonary alveolar:	n/a
28	chr18:29171977-29172027	MCF10A-Er-Src	breast:	n/a
29	chr18:29171545-29171595	AG09309	skin:	n/a
30	chr18:29178454-29178504	ProgFib	skin:	n/a
31	chr18:29171878-29171928	MCF-7	breast:	n/a
32	chr18:29171878-29171928	Jurkat	blood:	n/a
33	chr18:29171878-29171928	HRCEpiC	kidney:	n/a
34	chr18:29178942-29178992	HCPEpiC	choroid plexus:	n/a
35	chr18:29171977-29172027	K562	blood:	n/a
36	chr18:29170604-29170654	SK-N-SH	brain:	n/a
37	chr18:29171878-29171928	AG09309	skin:	n/a
38	chr18:29170928-29170978	AG09319	gingival:	n/a
39	chr18:29170604-29170654	HepG2	liver:	n/a
40	chr18:29178942-29178992	GM06990	blood:	n/a
41	chr18:29171545-29171595	MCF-7	breast:	n/a
42	chr18:29170928-29170978	Hepatocyte	liver:	n/a
43	chr18:29178454-29178504	HL-60	blood:	n/a
44	chr18:29171878-29171928	SK-N-SH_RA	brain:	n/a
45	chr18:29170928-29170978	GM12878	blood:	n/a
46	chr18:29178454-29178504	SK-N-SH	brain:	n/a
47	chr18:29170604-29170654	HCF	heart:	n/a
48	chr18:29171545-29171595	SK-N-MC	brain:	n/a
49	chr18:29171545-29171595	Caco-2	colon:	n/a
50	chr18:29178942-29178992	HAEpiC	amniotic membrane:	n/a

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

Extended variants
information (count: 1274 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114319848	chr18:29149777-29149778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200410616	chr18:29149787-29149788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200847770	chr18:29149789-29149790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557768380	chr18:29149792-29149793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576020722	chr18:29149808-29149809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537112646	chr18:29149809-29149810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140876581	chr18:29149841-29149842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530241798	chr18:29149867-29149868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10438932	chr18:29149901-29149902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189465450	chr18:29149955-29149956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144794231	chr18:29149961-29149962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552275513	chr18:29150038-29150039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192409975	chr18:29150042-29150043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531658317	chr18:29150057-29150058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550305543	chr18:29150085-29150086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1667236	chr18:29150097-29150098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183795978	chr18:29150158-29150159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189145214	chr18:29150178-29150179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9951041	chr18:29150290-29150291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs539735135	chr18:29150296-29150297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148255823	chr18:29150375-29150376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1791219	chr18:29150446-29150447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1941931	chr18:29150475-29150476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111464494	chr18:29150532-29150533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150811179	chr18:29150536-29150537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557154266	chr18:29150543-29150544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541998489	chr18:29150559-29150560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560775387	chr18:29150577-29150578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149353522	chr18:29150588-29150589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546477530	chr18:29150594-29150595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564279959	chr18:29150598-29150599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555687244	chr18:29150605-29150606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12455419	chr18:29150651-29150652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147445650	chr18:29150676-29150677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140000247	chr18:29150707-29150708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547581169	chr18:29150725-29150726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1791220	chr18:29150773-29150774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs376260448	chr18:29150777-29150778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145412188	chr18:29150778-29150779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551663905	chr18:29150828-29150829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147267600	chr18:29150883-29150884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180721954	chr18:29150907-29150908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541883188	chr18:29150938-29150939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76947998	chr18:29150947-29150948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186366944	chr18:29151001-29151002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148777347	chr18:29151035-29151036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4799577	chr18:29151087-29151088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs374034454	chr18:29151113-29151114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546119830	chr18:29151128-29151129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573494677	chr18:29151131-29151132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29146600-29156600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:29147600-29150000	Weak transcription	Fetal Intestine Large	intestine
3	chr18:29147600-29151800	Weak transcription	Fetal Intestine Small	intestine
4	chr18:29147800-29151400	Weak transcription	Liver	Liver
5	chr18:29148000-29152000	Weak transcription	HepG2	liver
6	chr18:29150000-29150400	Enhancers	Fetal Intestine Large	intestine
7	chr18:29150400-29151600	Weak transcription	Fetal Intestine Large	intestine
8	chr18:29151200-29152200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr18:29151400-29152400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr18:29151400-29152600	Enhancers	Liver	Liver
11	chr18:29151400-29152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:29151400-29154200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:29151600-29152000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:29151600-29152000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr18:29151600-29152200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:29151600-29152400	Enhancers	Primary hematopoietic stem cells	blood
17	chr18:29151600-29157600	Enhancers	Fetal Intestine Large	intestine
18	chr18:29151800-29152200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:29151800-29154000	Enhancers	Fetal Intestine Small	intestine
20	chr18:29152000-29152200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr18:29152000-29156000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr18:29152000-29157400	Enhancers	HepG2	liver
23	chr18:29152200-29152400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr18:29152200-29154400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr18:29152400-29152600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:29152400-29152600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:29152400-29156200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr18:29152600-29153000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:29152600-29153400	Flanking Active TSS	Liver	Liver
30	chr18:29152800-29153000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr18:29152800-29153400	Enhancers	Adipose Nuclei	Adipose
32	chr18:29152800-29153600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:29152800-29156000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr18:29153400-29155400	Enhancers	Liver	Liver
35	chr18:29153600-29161400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:29153800-29156000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr18:29154000-29154400	Weak transcription	Fetal Intestine Small	intestine
38	chr18:29154200-29156200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:29154400-29154600	Enhancers	Fetal Intestine Small	intestine
40	chr18:29154400-29154800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:29154600-29156800	Weak transcription	Fetal Intestine Small	intestine
42	chr18:29154800-29161000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:29155400-29156600	Flanking Active TSS	Liver	Liver
44	chr18:29155600-29156200	Enhancers	NHEK	skin
45	chr18:29155800-29156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:29156000-29156200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr18:29156000-29156200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr18:29156000-29156200	Enhancers	Pancreas	Pancrea
49	chr18:29156000-29156400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:29156000-29157000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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