Variant report

Variant	nsv1059131
Chromosome Location	chr18:288309-304250
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:295698..298491-chr18:306221..309182,2	MCF-7	breast:
2	chr18:248724..251192-chr18:298155..299664,2	K562	blood:
3	chr18:292167..293133-chr18:616102..616665,2	MCF-7	breast:
4	chr18:302419..306527-chr18:308522..311824,4	K562	blood:
5	chr18:292316..292911-chr18:477341..478167,2	MCF-7	breast:
6	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
7	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
8	chr18:291631..293957-chr18:611359..613782,2	MCF-7	breast:
9	chr18:293279..294017-chr18:477353..478290,2	MCF-7	breast:
10	chr18:292073..293974-chr18:294604..297450,2	K562	blood:
11	chr18:300482..306131-chr18:306212..309352,5	K562	blood:
12	chr18:293551..294215-chr18:616120..617138,3	MCF-7	breast:
13	chr18:269653..272578-chr18:297355..299675,2	K562	blood:
14	chr18:292073..293974-chr18:294604..297450,2	K562	blood:
15	chr18:273244..275466-chr18:289138..290909,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079101	chromatin interactions

Extended variants
information (count: 496 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528106887	chr18:288608-288609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566862540	chr18:288620-288621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528690096	chr18:288624-288625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539918262	chr18:288686-288687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs472780	chr18:288689-288690	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181275182	chr18:288692-288693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112103617	chr18:288693-288694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62073535	chr18:288735-288736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374096610	chr18:288816-288817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535544441	chr18:288833-288834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185478857	chr18:288888-288889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201532677	chr18:288956-288957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370240073	chr18:288957-288958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189885263	chr18:288962-288963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149324805	chr18:288963-288964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201954592	chr18:288999-289000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548489704	chr18:289000-289001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567016675	chr18:289002-289003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57866796	chr18:289004-289005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567630722	chr18:289011-289012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534732481	chr18:289038-289039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550137266	chr18:289144-289145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs653301	chr18:289153-289154	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs571777606	chr18:289193-289194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6506033	chr18:289209-289210	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs478096	chr18:289210-289211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs575389001	chr18:289218-289219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542891549	chr18:289314-289315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375809638	chr18:289327-289328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554594346	chr18:289347-289348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182104748	chr18:289397-289398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572945496	chr18:289400-289401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369983032	chr18:289474-289475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555920215	chr18:289563-289564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144582758	chr18:289589-289590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574709866	chr18:292806-292807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372327250	chr18:292814-292815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71352934	chr18:292821-292822	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188568500	chr18:292822-292823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572201954	chr18:292867-292868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545930539	chr18:292893-292894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72857525	chr18:292927-292928	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531559207	chr18:292928-292929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180941165	chr18:292936-292937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12606262	chr18:292939-292940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376740747	chr18:292947-292948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372030492	chr18:292951-292952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544828366	chr18:292966-292967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562030039	chr18:293004-293005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145939484	chr18:293045-293046	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Thoracic aortic aneurysm	21092924	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:288600-289600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr18:288800-289400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr18:292800-293400	Enhancers	Placenta	Placenta
4	chr18:293000-293400	Enhancers	Pancreas	Pancrea
5	chr18:293600-294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:294000-294200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:294200-295000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr18:294600-295000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:295000-296600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:295200-297000	Enhancers	NHDF-Ad	bronchial
11	chr18:295400-296000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:295400-296600	Enhancers	Osteobl	bone
13	chr18:295400-297000	Enhancers	HUVEC	blood vessel
14	chr18:296000-296600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:296000-296600	Enhancers	Fetal Muscle Leg	muscle
16	chr18:296000-296600	Enhancers	Fetal Stomach	stomach
17	chr18:296600-297600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:297000-297800	Weak transcription	NHDF-Ad	bronchial
19	chr18:297000-301400	Weak transcription	HUVEC	blood vessel
20	chr18:297600-298600	Enhancers	K562	blood
21	chr18:297600-299000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:297800-298200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr18:297800-298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:297800-298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr18:297800-298600	Enhancers	NHDF-Ad	bronchial
26	chr18:298600-302200	Weak transcription	K562	blood
27	chr18:298600-304800	Weak transcription	NHDF-Ad	bronchial
28	chr18:300800-301800	Enhancers	Fetal Lung	lung
29	chr18:301000-301400	Enhancers	Fetal Kidney	kidney
30	chr18:301400-302400	Enhancers	HUVEC	blood vessel
31	chr18:301800-303400	Weak transcription	Fetal Lung	lung
32	chr18:302000-302400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr18:302200-302400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr18:302200-302400	Enhancers	K562	blood
35	chr18:302200-302600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:302400-303400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr18:302400-303800	Weak transcription	K562	blood
38	chr18:303200-305800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:303400-304600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr18:303400-305600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr18:303400-305600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr18:303400-305600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr18:303400-305600	Enhancers	Fetal Lung	lung
44	chr18:303400-307200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr18:303400-307800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr18:303400-308200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:303600-305800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:303800-305400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr18:303800-305600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr18:303800-306600	Enhancers	K562	blood

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