Variant report

Variant	nsv1067147
Chromosome Location	chr18:45388621-45404768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 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	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
4	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
5	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
6	chr18:45379137..45382377-chr18:45391896..45394821,3	K562	blood:
7	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
8	chr17:57916192..57918375-chr18:45387752..45390655,2	MCF-7	breast:
9	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
10	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
11	chr18:45390223..45391741-chr18:45457289..45459666,2	MCF-7	breast:
12	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
13	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
14	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
15	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:
16	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
17	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
18	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
19	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000167977	chromatin interactions
ENSG00000267541	chromatin interactions
ENSG00000175387	chromatin interactions

Extended variants
information (count: 590 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:590 , 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	rs11663262	chr18:45388621-45388622	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575142125	chr18:45388668-45388669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190951645	chr18:45388723-45388724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530656098	chr18:45388731-45388732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181148058	chr18:45388734-45388735	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537011017	chr18:45388834-45388835	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570586650	chr18:45388839-45388840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533268213	chr18:45388842-45388843	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546576229	chr18:45388985-45388986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566782138	chr18:45389016-45389017	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146801917	chr18:45389028-45389029	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs16958551	chr18:45389087-45389088	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569543750	chr18:45389111-45389112	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567219979	chr18:45389126-45389127	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185592215	chr18:45389163-45389164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558405127	chr18:45389193-45389194	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576976763	chr18:45389213-45389214	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545954339	chr18:45389242-45389243	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576704430	chr18:45389265-45389266	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572796495	chr18:45389271-45389272	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542094985	chr18:45389380-45389381	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148496419	chr18:45389388-45389389	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544182106	chr18:45389394-45389395	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113570893	chr18:45389412-45389413	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190380152	chr18:45389423-45389424	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575519898	chr18:45389538-45389539	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543970696	chr18:45389544-45389545	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16958553	chr18:45389554-45389555	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533231194	chr18:45389558-45389559	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142704386	chr18:45389577-45389578	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560530050	chr18:45389613-45389614	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78164708	chr18:45389630-45389631	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549362019	chr18:45389637-45389638	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs151001835	chr18:45389672-45389673	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538553057	chr18:45389673-45389674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34872097	chr18:45389686-45389687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398079445	chr18:45389689-45389690	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs398032743	chr18:45389690-45389691	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200318649	chr18:45389691-45389692	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552734699	chr18:45389734-45389735	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375635951	chr18:45389750-45389751	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140841648	chr18:45389766-45389767	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539534826	chr18:45389804-45389805	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146013555	chr18:45389833-45389834	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572900603	chr18:45389841-45389842	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182931771	chr18:45389850-45389851	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555360716	chr18:45389917-45389918	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575435821	chr18:45389920-45389921	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146121005	chr18:45389925-45389926	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201351490	chr18:45389933-45389934	Weak transcription Strong transcription Genic enhancers 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:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45345400-45400200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr18:45366200-45390000	Weak transcription	Colonic Mucosa	Colon
3	chr18:45366600-45408200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:45372200-45396000	Weak transcription	NHLF	lung
5	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
6	chr18:45382600-45389600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:45383000-45389600	Weak transcription	Fetal Heart	heart
8	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
9	chr18:45383600-45392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
11	chr18:45384200-45421200	Weak transcription	Gastric	stomach
12	chr18:45384200-45423000	Weak transcription	Lung	lung
13	chr18:45384400-45389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr18:45384400-45390200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr18:45384400-45390200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:45384400-45392200	Strong transcription	HSMM	muscle
17	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
19	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
22	chr18:45384400-45419600	Weak transcription	K562	blood
23	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
24	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
26	chr18:45384800-45388800	Weak transcription	NH-A	brain
27	chr18:45384800-45389400	Weak transcription	HSMMtube	muscle
28	chr18:45384800-45392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:45384800-45392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
31	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
32	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
34	chr18:45385200-45389600	Weak transcription	Brain Anterior Caudate	brain
35	chr18:45385400-45389000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:45385400-45389600	Weak transcription	Fetal Brain Female	brain
37	chr18:45385400-45389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
39	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr18:45385600-45388800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr18:45385600-45388800	Weak transcription	NHDF-Ad	bronchial
42	chr18:45385600-45389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:45385600-45389600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr18:45385600-45389800	Weak transcription	Adipose Nuclei	Adipose
45	chr18:45385600-45400000	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
47	chr18:45385800-45389400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr18:45385800-45389600	Weak transcription	HUVEC	blood vessel
49	chr18:45385800-45389800	Weak transcription	HMEC	breast
50	chr18:45385800-45394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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