Variant report

Variant	nsv1057790
Chromosome Location	chr18:39621947-39705550
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	chr18:39692657-39693205	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:39693801-39694659	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:39627775-39627961	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:39693941-39694141	K562	blood:	n/a	n/a
5	ATF1	chr18:39681004-39681204	K562	blood:	n/a	n/a
6	BATF	chr18:39694341-39694593	GM12878	blood:	n/a	n/a
7	BCL11A	chr18:39693887-39694158	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:39680937-39681019	K562	blood:	n/a	n/a
9	BHLHE40	chr18:39692743-39693176	HepG2	liver:	n/a	n/a
10	BHLHE40	chr18:39633170-39633508	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:39694015-39694627	GM12878	blood:	n/a	n/a
12	CCNT2	chr18:39639300-39639506	K562	blood:	n/a	n/a
13	CEBPB	chr18:39667210-39667409	Hela-S3	cervix:	n/a	chr18:39667298-39667309
14	CEBPB	chr18:39624311-39624566	HepG2	liver:	n/a	chr18:39624432-39624443
15	CEBPB	chr18:39628106-39628503	A549	lung:	n/a	chr18:39628290-39628301
16	CEBPB	chr18:39694046-39694188	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr18:39628127-39628433	H1-hESC	embryonic stem cell:	n/a	chr18:39628290-39628301
18	CEBPB	chr18:39693873-39694205	K562	blood:	n/a	chr18:39694042-39694053
19	CEBPB	chr18:39628103-39628489	HepG2	liver:	n/a	chr18:39628290-39628301
20	CEBPB	chr18:39693864-39694214	HepG2	liver:	n/a	chr18:39694042-39694053
21	CEBPB	chr18:39693875-39694578	Hela-S3	cervix:	n/a	chr18:39694042-39694053
22	CEBPB	chr18:39629885-39630036	K562	blood:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
23	CEBPB	chr18:39629819-39630107	IMR90	lung:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
24	CEBPB	chr18:39624352-39624554	IMR90	lung:	n/a	chr18:39624432-39624443
25	CEBPB	chr18:39628182-39628448	HepG2	liver:	n/a	chr18:39628290-39628301
26	CEBPB	chr18:39693929-39694143	HepG2	liver:	n/a	chr18:39694042-39694053
27	CEBPB	chr18:39692670-39693072	HepG2	liver:	n/a	n/a
28	CEBPB	chr18:39628182-39628413	ECC-1	luminal epithelium:	n/a	chr18:39628290-39628301
29	CEBPB	chr18:39693851-39694550	IMR90	lung:	n/a	chr18:39694042-39694053
30	CEBPB	chr18:39659452-39659548	K562	blood:	n/a	n/a
31	CEBPB	chr18:39652020-39652525	A549	lung:	n/a	chr18:39652130-39652143 chr18:39652130-39652143 chr18:39652472-39652485
32	CEBPB	chr18:39669715-39669927	HepG2	liver:	n/a	chr18:39669902-39669913
33	CEBPB	chr18:39647958-39648448	HepG2	liver:	n/a	chr18:39647970-39647981 chr18:39647965-39647982 chr18:39648314-39648325 chr18:39647968-39647981
34	CEBPB	chr18:39629819-39630086	HepG2	liver:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
35	CEBPB	chr18:39697899-39698038	Hela-S3	cervix:	n/a	chr18:39697953-39697964
36	CEBPB	chr18:39628107-39628479	A549	lung:	n/a	chr18:39628290-39628301
37	CEBPB	chr18:39624351-39624566	H1-hESC	embryonic stem cell:	n/a	chr18:39624432-39624443
38	CEBPB	chr18:39628041-39628608	A549	lung:	n/a	chr18:39628290-39628301
39	CEBPB	chr18:39624358-39624488	HepG2	liver:	n/a	chr18:39624432-39624443
40	CEBPB	chr18:39667263-39667436	K562	blood:	n/a	chr18:39667298-39667309
41	CEBPB	chr18:39627664-39628504	IMR90	lung:	n/a	chr18:39628290-39628301
42	CEBPB	chr18:39628115-39628508	MCF-7	breast:	n/a	chr18:39628290-39628301
43	CEBPB	chr18:39693866-39694191	K562	blood:	n/a	chr18:39694042-39694053
44	CEBPB	chr18:39628156-39628472	K562	blood:	n/a	chr18:39628290-39628301
45	CEBPB	chr18:39629854-39630110	A549	lung:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
46	CEBPB	chr18:39628173-39628430	HepG2	liver:	n/a	chr18:39628290-39628301
47	CEBPB	chr18:39627997-39628587	MCF-7	breast:	n/a	chr18:39628290-39628301
48	CEBPB	chr18:39628115-39628494	HepG2	liver:	n/a	chr18:39628290-39628301
49	CEBPB	chr18:39697809-39698139	HepG2	liver:	n/a	chr18:39697953-39697964
50	CEBPB	chr18:39693858-39694232	HepG2	liver:	n/a	chr18:39694042-39694053

No.	Distal block	Cell Line	Cell type
1	chr18:39633144..39633820-chr18:39854093..39855052,2	MCF-7	breast:
2	chr18:39694318..39694934-chr18:40851655..40852415,2	MCF-7	breast:
3	chr18:39634544..39636615-chr18:39639116..39640932,2	K562	blood:
4	chr18:39653176..39655902-chr18:39657058..39659990,2	MCF-7	breast:
5	chr18:39631810..39632517-chr18:39878504..39879351,2	MCF-7	breast:
6	chr18:39631949..39632783-chr18:41143572..41144215,2	MCF-7	breast:
7	chr18:39634544..39636615-chr18:39639116..39640932,2	K562	blood:
8	chr18:39653176..39655902-chr18:39657058..39659990,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETBP1-8	chr18:39661838-39663348	NONHSAT059059
2	lnc-PIK3C3-3	chr18:39669276-39669716	NONHSAT059060

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PIK3C3	hsa-miR-98-5p	chr18:39630469-39630491
2	PIK3C3	hsa-miR-98-5p	chr18:39630215-39630240

Variant related genes	Relation type
ENSG00000267088	TF binding region
PIK3C3	TF binding region
ENSG00000132872	chromatin interactions

Extended variants
information (count: 2742 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2742 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8082833	chr18:39621947-39621948	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183643826	chr18:39622009-39622010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573739025	chr18:39622033-39622034	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148310761	chr18:39622054-39622055	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560320017	chr18:39622064-39622065	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567057391	chr18:39622088-39622089	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376762263	chr18:39622132-39622133	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533266047	chr18:39622222-39622223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551924881	chr18:39622255-39622256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150860190	chr18:39622279-39622280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114740209	chr18:39622305-39622306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143651173	chr18:39622313-39622314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62082292	chr18:39622314-39622315	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528922916	chr18:39622370-39622371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145871782	chr18:39622408-39622409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550681268	chr18:39622421-39622422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185151761	chr18:39622456-39622457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147180316	chr18:39622515-39622516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558022236	chr18:39622561-39622562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140497476	chr18:39622591-39622592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534218007	chr18:39622617-39622618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1064554	chr18:39622625-39622626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556073366	chr18:39622668-39622669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531695383	chr18:39622762-39622763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28708684	chr18:39622816-39622817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544164353	chr18:39622826-39622827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556158538	chr18:39622874-39622875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370926701	chr18:39622929-39622930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534597638	chr18:39622949-39622950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189569855	chr18:39622950-39622951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144566488	chr18:39622952-39622953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535326215	chr18:39623013-39623014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564116504	chr18:39623014-39623015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376367059	chr18:39623054-39623055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540133192	chr18:39623070-39623071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182640280	chr18:39623077-39623078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187016431	chr18:39623108-39623109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144590521	chr18:39623125-39623126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192987031	chr18:39623143-39623144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183715390	chr18:39623164-39623165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551497312	chr18:39623185-39623186	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369336874	chr18:39623186-39623187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs493100	chr18:39623188-39623189	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142493449	chr18:39623219-39623220	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150963845	chr18:39623220-39623221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538150342	chr18:39623264-39623265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556095210	chr18:39623287-39623288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554003499	chr18:39623306-39623307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577655490	chr18:39623388-39623389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140858406	chr18:39623407-39623408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:1386 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
4	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
5	chr18:39581000-39647400	Weak transcription	Spleen	Spleen
6	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:39585000-39646000	Weak transcription	Pancreas	Pancrea
8	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
9	chr18:39585400-39627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr18:39585600-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:39586600-39647400	Weak transcription	Thymus	Thymus
12	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
13	chr18:39592200-39629400	Weak transcription	Fetal Brain Female	brain
14	chr18:39594600-39638800	Weak transcription	K562	blood
15	chr18:39597400-39622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:39599000-39646000	Weak transcription	Psoas Muscle	Psoas
17	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:39606200-39628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:39607400-39626000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr18:39607600-39634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:39608600-39627400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr18:39608800-39631400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr18:39609000-39625600	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr18:39609000-39628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:39609200-39624000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:39609200-39624200	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:39609200-39625800	Strong transcription	Primary T cells from cord blood	blood
28	chr18:39609200-39626000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr18:39609200-39626600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr18:39609200-39631400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:39609200-39631600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr18:39609400-39626200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:39609800-39622000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:39609800-39630400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:39610200-39626200	Strong transcription	Liver	Liver
36	chr18:39610600-39628000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr18:39611600-39627600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr18:39612200-39623000	Weak transcription	Fetal Intestine Small	intestine
39	chr18:39612200-39647400	Weak transcription	Aorta	Aorta
40	chr18:39612200-39666400	Weak transcription	Gastric	stomach
41	chr18:39612200-39669800	Weak transcription	Fetal Stomach	stomach
42	chr18:39612200-39670000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:39612400-39624000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:39613200-39622400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr18:39613400-39626200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr18:39613800-39631200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr18:39613800-39631400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:39614200-39624000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr18:39614400-39623000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr18:39614400-39631400	Strong transcription	Primary B cells from cord blood	blood

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