Variant report

Variant	nsv1057307
Chromosome Location	chr18:45394077-45404768
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
2	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
3	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
4	chr18:45388105..45390269-chr18:45393560..45395389,2	K562	blood:
5	chr18:45379137..45382377-chr18:45391896..45394821,3	K562	blood:
6	chr18:45400689..45404562-chr18:45404621..45407103,3	K562	blood:
7	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
8	chr16:2732028..2732807-chr18:45399145..45399845,2	Hela-S3	cervix:
9	chr18:45393055..45395642-chr18:45402481..45404020,2	MCF-7	breast:
10	chr18:45402129..45404983-chr18:45456603..45459042,2	MCF-7	breast:
11	chr18:45403717..45406207-chr18:45456494..45458562,2	K562	blood:
12	chr18:45401120..45404562-chr18:45404621..45407593,3	K562	blood:
13	chr18:45402056..45405449-chr18:45544846..45548415,3	MCF-7	breast:
14	chr18:45396878..45399642-chr18:45401844..45403752,2	MCF-7	breast:
15	chr18:45391818..45394321-chr18:45399787..45402085,2	MCF-7	breast:
16	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
ENSG00000267541	chromatin interactions
ENSG00000167977	chromatin interactions
ENSG00000175387	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:375 , 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	rs79740857	chr18:45394078-45394079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191772057	chr18:45394079-45394080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184947683	chr18:45394103-45394104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548367346	chr18:45394172-45394173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568185058	chr18:45394179-45394180	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs28539375	chr18:45394183-45394184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188609322	chr18:45394195-45394196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1792683	chr18:45394206-45394207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141289445	chr18:45394224-45394225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546496490	chr18:45394247-45394248	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539736715	chr18:45394315-45394316	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546939153	chr18:45394319-45394320	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs566748030	chr18:45394321-45394322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192962331	chr18:45394345-45394346	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535645852	chr18:45394353-45394354	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114830160	chr18:45394601-45394602	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72661146	chr18:45394653-45394654	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185582147	chr18:45394656-45394657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376473211	chr18:45394659-45394660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72661145	chr18:45394662-45394663	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556991560	chr18:45394701-45394702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376826930	chr18:45394706-45394707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs576952880	chr18:45394753-45394754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576710835	chr18:45394768-45394769	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200480021	chr18:45394770-45394771	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs144973052	chr18:45394797-45394798	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370352616	chr18:45394805-45394806	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs143256118	chr18:45394844-45394845	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558253428	chr18:45394855-45394856	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370729420	chr18:45394858-45394859	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375940230	chr18:45394862-45394863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374062710	chr18:45394863-45394864	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376942381	chr18:45394876-45394877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201869291	chr18:45394877-45394878	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1787177	chr18:45394919-45394920	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538367091	chr18:45394928-45394929	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555056769	chr18:45394956-45394957	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559338393	chr18:45394982-45394983	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573111368	chr18:45395017-45395018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200099781	chr18:45395070-45395071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1787176	chr18:45395111-45395112	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs561578875	chr18:45395167-45395168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530889064	chr18:45395181-45395182	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550704237	chr18:45395197-45395198	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547497102	chr18:45395245-45395246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76149225	chr18:45395278-45395279	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546997204	chr18:45395294-45395295	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140765455	chr18:45395331-45395332	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114424236	chr18:45395353-45395354	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573936532	chr18:45395430-45395431	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr18:45386600-45394200	Weak transcription	Osteobl	bone
29	chr18:45386600-45395800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr18:45386600-45396800	Weak transcription	NHEK	skin
31	chr18:45386600-45397400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr18:45386800-45394800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr18:45386800-45395600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr18:45386800-45395800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr18:45386800-45397800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
38	chr18:45387000-45394800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr18:45387000-45395800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:45387000-45396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:45387000-45397000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:45387000-45397800	Weak transcription	Fetal Intestine Small	intestine
43	chr18:45387000-45397800	Weak transcription	Ovary	ovary
44	chr18:45387000-45407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:45387000-45407200	Weak transcription	Fetal Muscle Leg	muscle
46	chr18:45387000-45408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr18:45387000-45408400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:45387200-45398800	Weak transcription	Left Ventricle	heart
49	chr18:45387400-45395400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr18:45387400-45397600	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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