Variant report

Variant	nsv1066607
Chromosome Location	chr18:30562176-30623325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30603427..30606072-chr18:30608311..30610426,2	K562	blood:
2	chr18:30563863..30564576-chr9:2662386..2663024,2	MCF-7	breast:
3	chr1:144533565..144534495-chr18:30570840..30571340,2	Hela-S3	cervix:
4	chr18:30603427..30606072-chr18:30608311..30610426,2	K562	blood:

Variant related genes	Relation type
ENSG00000201699	chromatin interactions

Extended variants
information (count: 463 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:463 , 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	rs4074760	chr18:30562176-30562177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538755631	chr18:30562209-30562210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374313924	chr18:30562210-30562211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557055137	chr18:30562240-30562241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575315648	chr18:30562250-30562251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149480407	chr18:30562377-30562378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376458343	chr18:30562425-30562426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28706728	chr18:30562458-30562459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574235560	chr18:30562501-30562502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541638200	chr18:30562513-30562514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539980244	chr18:30562522-30562523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559720467	chr18:30562673-30562674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564538857	chr18:30562689-30562690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533314708	chr18:30562695-30562696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545105705	chr18:30562711-30562712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368251234	chr18:30562728-30562729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576778950	chr18:30562796-30562797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144810351	chr18:30562805-30562806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369387383	chr18:30562807-30562808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191612790	chr18:30562817-30562818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185661146	chr18:30562818-30562819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562819799	chr18:30562832-30562833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546840506	chr18:30562886-30562887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571479185	chr18:30562893-30562894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190431886	chr18:30562898-30562899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557140867	chr18:30562903-30562904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529820091	chr18:30562908-30562909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568964999	chr18:30562948-30562949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34620089	chr18:30562984-30562985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374046147	chr18:30563101-30563102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560819848	chr18:30563103-30563104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74667054	chr18:30563108-30563109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35153129	chr18:30563119-30563120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537211695	chr18:30563127-30563128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35622105	chr18:30563131-30563132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181619495	chr18:30563195-30563196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371693527	chr18:30563197-30563198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541374875	chr18:30563229-30563230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553208891	chr18:30563287-30563288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200479986	chr18:30563336-30563337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201947386	chr18:30563342-30563343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577817754	chr18:30563344-30563345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571390740	chr18:30563346-30563347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77414735	chr18:30563353-30563354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560421210	chr18:30563400-30563401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148053039	chr18:30563465-30563466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141422713	chr18:30563477-30563478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561142972	chr18:30563480-30563481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528448861	chr18:30563486-30563487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546581652	chr18:30563487-30563488	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Hepatocellular carcinoma	16750200	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30555200-30562800	Weak transcription	Fetal Lung	lung
2	chr18:30562000-30562600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:30562800-30563800	Enhancers	Fetal Lung	lung
4	chr18:30565200-30566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:30574400-30575200	Enhancers	Brain Germinal Matrix	brain
6	chr18:30578000-30578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:30589600-30591800	Enhancers	NH-A	brain
8	chr18:30589600-30592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr18:30589600-30592200	Enhancers	HUVEC	blood vessel
10	chr18:30589800-30591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:30589800-30592000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr18:30589800-30592000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr18:30589800-30593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:30590000-30591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr18:30590000-30592000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr18:30590000-30592000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr18:30590200-30590600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:30590200-30591200	Enhancers	Fetal Heart	heart
19	chr18:30590200-30591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:30590400-30591800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr18:30590400-30592000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr18:30590600-30591200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:30590600-30591600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr18:30591200-30591600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:30591400-30592000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:30591600-30592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr18:30591800-30593600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:30592200-30593200	Weak transcription	HUVEC	blood vessel
29	chr18:30593200-30593800	Enhancers	HUVEC	blood vessel
30	chr18:30593200-30594400	Enhancers	Stomach Mucosa	stomach
31	chr18:30593600-30594000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr18:30593600-30594200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr18:30593800-30594200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:30593800-30594600	Enhancers	Fetal Lung	lung
35	chr18:30593800-30594600	Enhancers	HepG2	liver
36	chr18:30593800-30594600	Flanking Active TSS	HUVEC	blood vessel
37	chr18:30594000-30594400	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr18:30594200-30594400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:30594200-30594600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr18:30594200-30594600	Enhancers	Dnd41	blood
41	chr18:30594400-30594600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:30594400-30594600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr18:30594600-30594800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr18:30594600-30595000	Enhancers	HUVEC	blood vessel
45	chr18:30601400-30602400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:30614000-30614600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr18:30614000-30616200	Enhancers	HUVEC	blood vessel
48	chr18:30614600-30615600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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