Variant report

Variant	nsv1057988
Chromosome Location	chr18:39618253-39713904
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	chr18:39693801-39694659	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:39693941-39694141	K562	blood:	n/a	n/a
3	ARID3A	chr18:39692657-39693205	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:39627775-39627961	HepG2	liver:	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	chr18:39633170-39633508	GM12878	blood:	n/a	n/a
9	BHLHE40	chr18:39694015-39694627	GM12878	blood:	n/a	n/a
10	BHLHE40	chr18:39692743-39693176	HepG2	liver:	n/a	n/a
11	BHLHE40	chr18:39680937-39681019	K562	blood:	n/a	n/a
12	CCNT2	chr18:39639300-39639506	K562	blood:	n/a	n/a
13	CEBPB	chr18:39669715-39669927	HepG2	liver:	n/a	chr18:39669902-39669913
14	CEBPB	chr18:39629885-39630036	K562	blood:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
15	CEBPB	chr18:39624351-39624566	H1-hESC	embryonic stem cell:	n/a	chr18:39624432-39624443
16	CEBPB	chr18:39647958-39648448	HepG2	liver:	n/a	chr18:39647970-39647981 chr18:39647965-39647982 chr18:39648314-39648325 chr18:39647968-39647981
17	CEBPB	chr18:39669660-39669930	IMR90	lung:	n/a	chr18:39669902-39669913
18	CEBPB	chr18:39628040-39628537	Hela-S3	cervix:	n/a	chr18:39628290-39628301
19	CEBPB	chr18:39629819-39630086	HepG2	liver:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
20	CEBPB	chr18:39693864-39694214	HepG2	liver:	n/a	chr18:39694042-39694053
21	CEBPB	chr18:39629819-39630107	IMR90	lung:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
22	CEBPB	chr18:39667259-39667419	HepG2	liver:	n/a	chr18:39667298-39667309
23	CEBPB	chr18:39624311-39624566	HepG2	liver:	n/a	chr18:39624432-39624443
24	CEBPB	chr18:39697899-39698038	Hela-S3	cervix:	n/a	chr18:39697953-39697964
25	CEBPB	chr18:39693875-39694578	Hela-S3	cervix:	n/a	chr18:39694042-39694053
26	CEBPB	chr18:39693879-39694190	HepG2	liver:	n/a	chr18:39694042-39694053
27	CEBPB	chr18:39628182-39628413	ECC-1	luminal epithelium:	n/a	chr18:39628290-39628301
28	CEBPB	chr18:39693851-39694550	IMR90	lung:	n/a	chr18:39694042-39694053
29	CEBPB	chr18:39628182-39628448	HepG2	liver:	n/a	chr18:39628290-39628301
30	CEBPB	chr18:39693929-39694143	HepG2	liver:	n/a	chr18:39694042-39694053
31	CEBPB	chr18:39628173-39628430	HepG2	liver:	n/a	chr18:39628290-39628301
32	CEBPB	chr18:39629854-39630110	A549	lung:	n/a	chr18:39629962-39629971 chr18:39629962-39629971 chr18:39629962-39629971
33	CEBPB	chr18:39659452-39659548	K562	blood:	n/a	n/a
34	CEBPB	chr18:39629510-39629525	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr18:39624352-39624554	IMR90	lung:	n/a	chr18:39624432-39624443
36	CEBPB	chr18:39628041-39628608	A549	lung:	n/a	chr18:39628290-39628301
37	CEBPB	chr18:39667263-39667436	K562	blood:	n/a	chr18:39667298-39667309
38	CEBPB	chr18:39628103-39628489	HepG2	liver:	n/a	chr18:39628290-39628301
39	CEBPB	chr18:39692670-39693072	HepG2	liver:	n/a	n/a
40	CEBPB	chr18:39626951-39627146	HepG2	liver:	n/a	n/a
41	CEBPB	chr18:39694046-39694188	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr18:39693858-39694232	HepG2	liver:	n/a	chr18:39694042-39694053
43	CEBPB	chr18:39697904-39698025	H1-hESC	embryonic stem cell:	n/a	chr18:39697953-39697964
44	CEBPB	chr18:39659333-39659682	IMR90	lung:	n/a	n/a
45	CEBPB	chr18:39693765-39694280	HCT-116	colon:	n/a	chr18:39694042-39694053
46	CEBPB	chr18:39628127-39628433	H1-hESC	embryonic stem cell:	n/a	chr18:39628290-39628301
47	CEBPB	chr18:39697809-39698139	HepG2	liver:	n/a	chr18:39697953-39697964
48	CEBPB	chr18:39669667-39669805	A549	lung:	n/a	n/a
49	CEBPB	chr18:39627997-39628587	MCF-7	breast:	n/a	chr18:39628290-39628301
50	CEBPB	chr18:39628107-39628479	A549	lung:	n/a	chr18:39628290-39628301

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

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: 2942 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2942 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190501233	chr18:39618256-39618257	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548781806	chr18:39618282-39618283	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184040179	chr18:39618285-39618286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531318326	chr18:39618313-39618314	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566218358	chr18:39618319-39618320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373630099	chr18:39618368-39618369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549933335	chr18:39618392-39618393	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375359600	chr18:39618393-39618394	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538908575	chr18:39618396-39618397	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554086120	chr18:39618407-39618408	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371077701	chr18:39618413-39618414	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536681128	chr18:39618415-39618416	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531011937	chr18:39618430-39618431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565615927	chr18:39618451-39618452	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576448311	chr18:39618462-39618463	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537566228	chr18:39618463-39618464	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6650644	chr18:39618469-39618470	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556349007	chr18:39618514-39618515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577951329	chr18:39618535-39618536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545317295	chr18:39618545-39618546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187277886	chr18:39618546-39618547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190961000	chr18:39618554-39618555	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542572141	chr18:39618566-39618567	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560742069	chr18:39618569-39618570	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531257379	chr18:39618572-39618573	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549477111	chr18:39618635-39618636	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565130079	chr18:39618674-39618675	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201832286	chr18:39618700-39618701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547753690	chr18:39618702-39618703	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182787400	chr18:39618718-39618719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142122018	chr18:39618725-39618726	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562944108	chr18:39618732-39618733	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145914920	chr18:39618739-39618740	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368339329	chr18:39618840-39618841	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs569955318	chr18:39618847-39618848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371941300	chr18:39618854-39618855	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111603767	chr18:39618875-39618876	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs530275712	chr18:39618892-39618893	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186485681	chr18:39618910-39618911	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577890267	chr18:39618949-39618950	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs111673178	chr18:39619011-39619012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs138460080	chr18:39619075-39619076	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553697609	chr18:39619081-39619082	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs75306607	chr18:39619131-39619132	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79259110	chr18:39619132-39619133	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78891961	chr18:39619134-39619135	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191681008	chr18:39619165-39619166	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs548410629	chr18:39619187-39619188	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182426111	chr18:39619225-39619226	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs566603870	chr18:39619240-39619241	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	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:1504 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:39572000-39654400	Weak transcription	Colonic Mucosa	Colon
5	chr18:39578400-39663200	Weak transcription	Fetal Heart	heart
6	chr18:39581000-39647400	Weak transcription	Spleen	Spleen
7	chr18:39581000-39666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr18:39584600-39618600	Weak transcription	NHLF	lung
9	chr18:39585000-39646000	Weak transcription	Pancreas	Pancrea
10	chr18:39585000-39658600	Weak transcription	Small Intestine	intestine
11	chr18:39585400-39627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:39585600-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:39586400-39619000	Weak transcription	HUVEC	blood vessel
14	chr18:39586600-39647400	Weak transcription	Thymus	Thymus
15	chr18:39587000-39619400	Weak transcription	Lung	lung
16	chr18:39590600-39668000	Weak transcription	Esophagus	oesophagus
17	chr18:39592200-39629400	Weak transcription	Fetal Brain Female	brain
18	chr18:39594600-39638800	Weak transcription	K562	blood
19	chr18:39596200-39618800	Weak transcription	Brain Germinal Matrix	brain
20	chr18:39597400-39622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:39599000-39646000	Weak transcription	Psoas Muscle	Psoas
22	chr18:39601600-39668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:39602200-39620800	Weak transcription	A549	lung
24	chr18:39605600-39619000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:39605600-39620400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr18:39606200-39618400	Weak transcription	HepG2	liver
27	chr18:39606200-39628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:39607400-39626000	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr18:39607600-39634600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr18:39608600-39627400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr18:39608800-39631400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr18:39609000-39625600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr18:39609000-39628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:39609200-39618600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:39609200-39618600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:39609200-39624000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:39609200-39624200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr18:39609200-39625800	Strong transcription	Primary T cells from cord blood	blood
39	chr18:39609200-39626000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:39609200-39626600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr18:39609200-39631400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr18:39609200-39631600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr18:39609400-39618400	Strong transcription	Osteobl	bone
44	chr18:39609400-39626200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr18:39609800-39620000	Strong transcription	Primary hematopoietic stem cells	blood
46	chr18:39609800-39621800	Strong transcription	Placenta	Placenta
47	chr18:39609800-39622000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr18:39609800-39630400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr18:39610000-39618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr18:39610000-39618800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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