Variant report

Variant	nsv1057072
Chromosome Location	chr18:45395377-45410041
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:145)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:145 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:45397603-45397941	HepG2	liver:	n/a	chr18:45397770-45397786
2	CEBPB	chr18:45409035-45409381	IMR90	lung:	n/a	n/a
3	CEBPB	chr18:45397656-45397855	HepG2	liver:	n/a	chr18:45397738-45397749
4	CEBPB	chr18:45408908-45409377	A549	lung:	n/a	n/a
5	CEBPB	chr18:45409062-45409374	A549	lung:	n/a	n/a
6	CTCF	chr18:45397147-45397238	K562	blood:	n/a	n/a
7	CTCF	chr18:45397160-45397310	HMEC	breast:	n/a	n/a
8	CTCF	chr18:45399007-45399037	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr18:45403300-45403450	GM06990	blood:	n/a	n/a
10	CTCF	chr18:45397120-45397270	NHEK	skin:	n/a	n/a
11	CTCF	chr18:45403260-45403410	A549	lung:	n/a	n/a
12	CTCF	chr18:45403240-45403390	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr18:45403240-45403390	GM12867	blood:	n/a	n/a
14	CTCF	chr18:45403260-45403410	AG04449	skin:	n/a	n/a
15	CTCF	chr18:45395363-45395424	Lung_OC	lung:	n/a	n/a
16	CTCF	chr18:45403320-45403470	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr18:45403320-45403470	GM12874	blood:	n/a	n/a
18	CTCF	chr18:45403260-45403410	GM12878	blood:	n/a	n/a
19	CTCF	chr18:45397102-45397279	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr18:45403320-45403470	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr18:45397120-45397270	HEK293	kidney:	n/a	n/a
22	CTCF	chr18:45397161-45397193	MCF-7	breast:	n/a	n/a
23	CTCF	chr18:45403280-45403430	HPAF	blood vessel:	n/a	n/a
24	CTCF	chr18:45397100-45397250	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr18:45397866-45397900	Fibrobl	skin:	n/a	n/a
26	CTCF	chr18:45403352-45403411	Medullo	brain:	n/a	n/a
27	CTCF	chr18:45397074-45397282	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr18:45403320-45403470	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr18:45403260-45403410	HPF	lung:	n/a	n/a
30	CTCF	chr18:45403296-45403298	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr18:45397176-45397227	Medullo	brain:	n/a	n/a
32	CTCF	chr18:45403280-45403430	HEK293	kidney:	n/a	n/a
33	CTCF	chr18:45397097-45397248	GM12878	blood:	n/a	n/a
34	CTCF	chr18:45403240-45403390	HCM	heart:	n/a	n/a
35	CTCF	chr18:45403340-45403490	HMF	breast:	n/a	n/a
36	CTCF	chr18:45403240-45403390	GM12864	blood:	n/a	n/a
37	CTCF	chr18:45403334-45403434	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr18:45397080-45397230	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr18:45397000-45397150	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr18:45403300-45403423	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr18:45397120-45397270	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr18:45397120-45397270	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr18:45397147-45397225	GM12878	blood:	n/a	n/a
44	CTCF	chr18:45403300-45403450	HCFaa	heart:	n/a	n/a
45	CUX1	chr18:45400694-45400830	GM12878	blood:	n/a	n/a
46	E2F4	chr18:45408218-45408439	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr18:45398184-45398481	MCF10A-Er-Src	breast:	n/a	n/a
48	ELF1	chr18:45408141-45408454	K562	blood:	n/a	chr18:45408333-45408346
49	ELF1	chr18:45408241-45408399	HepG2	liver:	n/a	chr18:45408333-45408346
50	ELF1	chr18:45408160-45408392	HepG2	liver:	n/a	chr18:45408333-45408346

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
2	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
3	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
4	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
5	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
6	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
7	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
8	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
9	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
10	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
11	chr18:45406363..45407026-chr6:35439781..35440543,2	Hela-S3	cervix:
12	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
13	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
14	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
15	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-4	chr18:45408736-45408815	ENSG00000269365.1
2	lnc-ZBTB7C-5	chr18:45396844-45396935	NONHSAT059175
3	lnc-ZBTB7C-4	chr18:45404666-45404867	ENSG00000269365.1

No data

Variant related genes	Relation type
ENSG00000269365	TF binding region
ENSG00000175387	chromatin interactions
ENSG00000167977	chromatin interactions

Extended variants
information (count: 563 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:563 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573936532	chr18:45395430-45395431	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115059505	chr18:45395455-45395456	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569520181	chr18:45395511-45395512	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189376447	chr18:45395536-45395537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370348588	chr18:45395579-45395580	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557053613	chr18:45395599-45395600	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200086333	chr18:45395609-45395610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376007902	chr18:45395618-45395619	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554216321	chr18:45395642-45395643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200841904	chr18:45395686-45395687	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368541611	chr18:45395698-45395699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539035008	chr18:45395714-45395715	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552945104	chr18:45395741-45395742	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372254986	chr18:45395745-45395746	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199707270	chr18:45395762-45395763	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374809046	chr18:45395775-45395776	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180698202	chr18:45395783-45395784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183623000	chr18:45395815-45395816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201367323	chr18:45395827-45395828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34501809	chr18:45395846-45395847	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61527959	chr18:45395863-45395864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79504033	chr18:45395876-45395877	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370710918	chr18:45395893-45395894	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533486284	chr18:45395905-45395906	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577445713	chr18:45395965-45395966	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78891797	chr18:45396082-45396083	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568316357	chr18:45396084-45396085	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72912385	chr18:45396115-45396116	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12458977	chr18:45396125-45396126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74430094	chr18:45396128-45396129	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188328246	chr18:45396153-45396154	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115067065	chr18:45396159-45396160	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540294978	chr18:45396160-45396161	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370238907	chr18:45396314-45396315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150096838	chr18:45396440-45396441	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531894176	chr18:45396448-45396449	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372521052	chr18:45396454-45396455	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5824711	chr18:45396469-45396470	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs398032744	chr18:45396472-45396473	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370475514	chr18:45396473-45396474	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552025569	chr18:45396509-45396510	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113169600	chr18:45396532-45396533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186495629	chr18:45396537-45396538	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552670040	chr18:45396549-45396550	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576201595	chr18:45396577-45396578	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190149815	chr18:45396621-45396622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73443904	chr18:45396631-45396632	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181803762	chr18:45396656-45396657	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117831128	chr18:45396686-45396687	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575186999	chr18:45396687-45396688	Weak transcription Strong transcription Genic enhancers	n/a	n/a	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:557 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:45372200-45396000	Weak transcription	NHLF	lung
4	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
5	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
6	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
7	chr18:45384200-45421200	Weak transcription	Gastric	stomach
8	chr18:45384200-45423000	Weak transcription	Lung	lung
9	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
11	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
14	chr18:45384400-45419600	Weak transcription	K562	blood
15	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
16	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
18	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
19	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
20	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
22	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
23	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
25	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
26	chr18:45385800-45396000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr18:45386400-45401800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr18:45386600-45395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr18:45386600-45396800	Weak transcription	NHEK	skin
30	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:45386800-45395600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr18:45386800-45395800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:45386800-45397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
36	chr18:45387000-45395800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:45387000-45396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:45387000-45397000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:45387000-45397800	Weak transcription	Fetal Intestine Small	intestine
40	chr18:45387000-45397800	Weak transcription	Ovary	ovary
41	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
43	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr18:45387200-45398800	Weak transcription	Left Ventricle	heart
46	chr18:45387400-45395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr18:45387400-45397600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:45387600-45396000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:45387600-45408200	Weak transcription	Fetal Stomach	stomach
50	chr18:45387800-45398200	Strong transcription	Dnd41	blood

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