Variant report

Variant	nsv960228
Chromosome Location	chr18:45401994-45411054
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:117)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:117 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr18:45409035-45409381	IMR90	lung:	n/a	n/a
2	CEBPB	chr18:45408908-45409377	A549	lung:	n/a	n/a
3	CEBPB	chr18:45409062-45409374	A549	lung:	n/a	n/a
4	CTCF	chr18:45403296-45403298	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr18:45403280-45403430	HPAF	blood vessel:	n/a	n/a
6	CTCF	chr18:45403260-45403410	AG04449	skin:	n/a	n/a
7	CTCF	chr18:45403352-45403411	Medullo	brain:	n/a	n/a
8	CTCF	chr18:45403300-45403423	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr18:45403280-45403430	HEK293	kidney:	n/a	n/a
10	CTCF	chr18:45403320-45403470	HPAF	blood vessel:	n/a	n/a
11	CTCF	chr18:45403300-45403450	HCFaa	heart:	n/a	n/a
12	CTCF	chr18:45403240-45403390	GM12867	blood:	n/a	n/a
13	CTCF	chr18:45403320-45403470	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr18:45403340-45403490	HMF	breast:	n/a	n/a
15	CTCF	chr18:45403260-45403410	A549	lung:	n/a	n/a
16	CTCF	chr18:45410321-45410358	LNCaP	prostate:	n/a	n/a
17	CTCF	chr18:45403240-45403390	GM12864	blood:	n/a	n/a
18	CTCF	chr18:45410220-45410370	HRE	kidney:	n/a	n/a
19	CTCF	chr18:45403320-45403470	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr18:45410288-45410359	NHEK	skin:	n/a	n/a
21	CTCF	chr18:45403300-45403450	GM06990	blood:	n/a	n/a
22	CTCF	chr18:45403240-45403390	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr18:45403320-45403470	GM12874	blood:	n/a	n/a
24	CTCF	chr18:45403260-45403410	HPF	lung:	n/a	n/a
25	CTCF	chr18:45410240-45410390	GM06990	blood:	n/a	n/a
26	CTCF	chr18:45403260-45403410	GM12878	blood:	n/a	n/a
27	CTCF	chr18:45403334-45403434	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr18:45403240-45403390	HCM	heart:	n/a	n/a
29	E2F4	chr18:45408218-45408439	MCF10A-Er-Src	breast:	n/a	n/a
30	E2F4	chr18:45410401-45410601	MCF10A-Er-Src	breast:	n/a	n/a
31	ELF1	chr18:45408160-45408392	HepG2	liver:	n/a	chr18:45408333-45408346
32	ELF1	chr18:45408141-45408454	K562	blood:	n/a	chr18:45408333-45408346
33	ELF1	chr18:45408241-45408399	HepG2	liver:	n/a	chr18:45408333-45408346
34	EP300	chr18:45407954-45408484	A549	lung:	n/a	n/a
35	EP300	chr18:45407925-45408604	A549	lung:	n/a	n/a
36	EP300	chr18:45408325-45408413	K562	blood:	n/a	n/a
37	EP300	chr18:45409161-45409280	K562	blood:	n/a	n/a
38	FOS	chr18:45410335-45410717	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr18:45409073-45409373	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr18:45408968-45409424	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr18:45408344-45408521	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr18:45410406-45410606	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr18:45409049-45409409	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr18:45410314-45410820	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr18:45409070-45409373	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr18:45410357-45410708	MCF10A-Er-Src	breast:	n/a	n/a
47	FOSL2	chr18:45409000-45409387	A549	lung:	n/a	n/a
48	FOXA2	chr18:45408164-45408388	HepG2	liver:	n/a	n/a
49	GATA3	chr18:45407857-45408659	A549	lung:	n/a	n/a
50	GATA3	chr18:45406144-45406307	SH-SY5Y	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
2	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
3	chr18:45406363..45407026-chr6:35439781..35440543,2	Hela-S3	cervix:
4	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
5	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
6	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
7	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
8	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
9	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
10	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
11	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-4	chr18:45408736-45408815	ENSG00000269365.1
2	lnc-ZBTB7C-4	chr18:45404666-45404867	ENSG00000269365.1

No data

Variant related genes	Relation type
ENSG00000269365	TF binding region
ENSG00000175387	chromatin interactions

Extended variants
information (count: 360 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73443909	chr18:45402005-45402006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190933515	chr18:45402186-45402187	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs74604462	chr18:45402238-45402239	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182640783	chr18:45402310-45402311	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552880416	chr18:45402409-45402410	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572660779	chr18:45402416-45402417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs570828309	chr18:45402441-45402442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs16958577	chr18:45402455-45402456	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539520156	chr18:45402471-45402472	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139001247	chr18:45402537-45402538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186328305	chr18:45402556-45402557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191182558	chr18:45402571-45402572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs533448774	chr18:45402573-45402574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547233195	chr18:45402645-45402646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77425905	chr18:45402649-45402650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75556167	chr18:45402650-45402651	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs79088182	chr18:45402653-45402654	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567177616	chr18:45402677-45402678	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529484924	chr18:45402708-45402709	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539409245	chr18:45402710-45402711	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568147854	chr18:45402773-45402774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs16958579	chr18:45402778-45402779	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182693891	chr18:45402790-45402791	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570008239	chr18:45402803-45402804	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570464613	chr18:45402804-45402805	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs140706725	chr18:45402813-45402814	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117142848	chr18:45402844-45402845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572822416	chr18:45402850-45402851	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187325724	chr18:45402851-45402852	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562801487	chr18:45402869-45402870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531538629	chr18:45402959-45402960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555175931	chr18:45402976-45402977	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150466040	chr18:45403014-45403015	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544734033	chr18:45403028-45403029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374190243	chr18:45403089-45403090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192232580	chr18:45403105-45403106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564433062	chr18:45403144-45403145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs75470557	chr18:45403148-45403149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376536993	chr18:45403181-45403182	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540292630	chr18:45403192-45403193	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535678641	chr18:45403270-45403271	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs560735749	chr18:45403294-45403295	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs529650031	chr18:45403338-45403339	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555523050	chr18:45403349-45403350	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551145792	chr18:45403451-45403452	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1631576	chr18:45403483-45403484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs78421852	chr18:45403532-45403533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199753744	chr18:45403533-45403534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530510161	chr18:45403563-45403564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550607600	chr18:45403582-45403583	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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	21297112	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
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
3	chr18:45384200-45421200	Weak transcription	Gastric	stomach
4	chr18:45384200-45423000	Weak transcription	Lung	lung
5	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
6	chr18:45384400-45419600	Weak transcription	K562	blood
7	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
8	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
10	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
11	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
13	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
15	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
18	chr18:45389000-45410200	Weak transcription	Psoas Muscle	Psoas
19	chr18:45390000-45413600	Weak transcription	Fetal Heart	heart
20	chr18:45390400-45408200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:45390400-45408400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:45390400-45410000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr18:45390600-45410400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
26	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:45391400-45406600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:45391800-45405200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr18:45394000-45406200	Weak transcription	Fetal Intestine Large	intestine
30	chr18:45394600-45414000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:45394800-45407800	Weak transcription	Osteobl	bone
32	chr18:45395000-45407000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:45395200-45407000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr18:45395400-45407000	Weak transcription	NH-A	brain
35	chr18:45395400-45407000	Weak transcription	NHDF-Ad	bronchial
36	chr18:45395400-45408000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
38	chr18:45395600-45406600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:45395800-45405000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:45395800-45407000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:45395800-45407000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr18:45395800-45407000	Weak transcription	Fetal Kidney	kidney
43	chr18:45395800-45407000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr18:45395800-45407000	Weak transcription	HSMM	muscle
45	chr18:45395800-45407200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr18:45395800-45407600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:45396000-45406800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:45396000-45406800	Weak transcription	Placenta	Placenta
49	chr18:45396000-45406800	Weak transcription	Fetal Thymus	thymus
50	chr18:45396000-45407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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