Variant report

Variant	nsv1063791
Chromosome Location	chr18:45387616-45404428
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:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:
2	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
3	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
4	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
5	chr18:45401120..45404562-chr18:45404621..45407593,3	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	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
9	chr18:45379137..45382377-chr18:45391896..45394821,3	K562	blood:
10	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
11	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
12	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
13	chr18:45390223..45391741-chr18:45457289..45459666,2	MCF-7	breast:
14	chr17:57916192..57918375-chr18:45387752..45390655,2	MCF-7	breast:
15	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
16	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
17	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZBTB7C-5	chr18:45396844-45396935	NONHSAT059175

No data

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

Extended variants
information (count: 623 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548086068	chr18:45387653-45387654	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs568512770	chr18:45387656-45387657	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs537162313	chr18:45387658-45387659	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs149606598	chr18:45387666-45387667	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187057120	chr18:45387676-45387677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs539738546	chr18:45387701-45387702	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146114493	chr18:45387703-45387704	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113446946	chr18:45387705-45387706	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199958473	chr18:45387710-45387711	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542383858	chr18:45387725-45387726	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562161273	chr18:45387728-45387729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575564757	chr18:45387747-45387748	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75508272	chr18:45387815-45387816	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74253035	chr18:45387822-45387823	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369884905	chr18:45387827-45387828	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190674662	chr18:45387833-45387834	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77706503	chr18:45387890-45387891	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545823610	chr18:45387935-45387936	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559639834	chr18:45387945-45387946	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375260231	chr18:45387952-45387953	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528397406	chr18:45387963-45387964	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140094443	chr18:45387999-45388000	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143683310	chr18:45388021-45388022	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368156846	chr18:45388033-45388034	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531009375	chr18:45388041-45388042	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550838690	chr18:45388071-45388072	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373080628	chr18:45388215-45388216	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180687060	chr18:45388223-45388224	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539403937	chr18:45388237-45388238	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552973889	chr18:45388243-45388244	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566790978	chr18:45388291-45388292	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530366463	chr18:45388295-45388296	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555907306	chr18:45388328-45388329	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16958547	chr18:45388336-45388337	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547195753	chr18:45388339-45388340	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186082741	chr18:45388366-45388367	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116291231	chr18:45388391-45388392	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557053790	chr18:45388394-45388395	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199745604	chr18:45388399-45388400	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1792675	chr18:45388421-45388422	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs528192611	chr18:45388435-45388436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551429697	chr18:45388460-45388461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559405498	chr18:45388502-45388503	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528369836	chr18:45388503-45388504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370978396	chr18:45388551-45388552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11663262	chr18:45388621-45388622	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575142125	chr18:45388668-45388669	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190951645	chr18:45388723-45388724	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530656098	chr18:45388731-45388732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181148058	chr18:45388734-45388735	Weak transcription Strong transcription 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:565 , 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	chr18:45366200-45390000	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	chr18:45381800-45387800	ZNF genes & repeats	Dnd41	blood
6	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
7	chr18:45382600-45389600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr18:45383000-45389600	Weak transcription	Fetal Heart	heart
9	chr18:45383000-45396600	Strong transcription	Hela-S3	cervix
10	chr18:45383600-45392400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:45383800-45388400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:45383800-45388400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr18:45384000-45388200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr18:45384200-45398800	Weak transcription	Pancreas	Pancrea
15	chr18:45384200-45421200	Weak transcription	Gastric	stomach
16	chr18:45384200-45423000	Weak transcription	Lung	lung
17	chr18:45384400-45388000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr18:45384400-45388600	Weak transcription	Psoas Muscle	Psoas
19	chr18:45384400-45389600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:45384400-45390200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr18:45384400-45390200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr18:45384400-45392200	Strong transcription	HSMM	muscle
23	chr18:45384400-45397600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr18:45384400-45397800	Weak transcription	Small Intestine	intestine
25	chr18:45384400-45400200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr18:45384400-45401200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:45384400-45410200	Weak transcription	Aorta	Aorta
28	chr18:45384400-45419600	Weak transcription	K562	blood
29	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
30	chr18:45384600-45396600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:45384600-45399000	Weak transcription	Right Atrium	heart
32	chr18:45384800-45387800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr18:45384800-45388800	Weak transcription	NH-A	brain
34	chr18:45384800-45389400	Weak transcription	HSMMtube	muscle
35	chr18:45384800-45392200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr18:45384800-45392600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr18:45384800-45396800	Weak transcription	Colon Smooth Muscle	Colon
38	chr18:45384800-45400200	Weak transcription	Brain Substantia Nigra	brain
39	chr18:45384800-45407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
41	chr18:45385200-45389600	Weak transcription	Brain Anterior Caudate	brain
42	chr18:45385400-45388200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr18:45385400-45388600	Weak transcription	HepG2	liver
44	chr18:45385400-45389000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr18:45385400-45389600	Weak transcription	Fetal Brain Female	brain
46	chr18:45385400-45389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr18:45385400-45396800	Weak transcription	Stomach Mucosa	stomach
48	chr18:45385400-45400000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr18:45385600-45388600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr18:45385600-45388800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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