Variant report

Variant	nsv833617
Chromosome Location	chr18:30555111-30693587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30563863..30564576-chr9:2662386..2663024,2	MCF-7	breast:
2	chr18:30603427..30606072-chr18:30608311..30610426,2	K562	blood:
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: 1133 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1133 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192598205	chr18:30555120-30555121	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184220319	chr18:30555121-30555122	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554690390	chr18:30555150-30555151	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572837197	chr18:30555173-30555174	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188600806	chr18:30555296-30555297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374467103	chr18:30555314-30555315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553633446	chr18:30555395-30555396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4436849	chr18:30555446-30555447	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114381598	chr18:30555455-30555456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563514954	chr18:30555462-30555463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530990829	chr18:30555471-30555472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143504611	chr18:30555492-30555493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76029110	chr18:30555567-30555568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528488697	chr18:30555725-30555726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571230632	chr18:30555730-30555731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368442587	chr18:30555770-30555771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115021654	chr18:30555818-30555819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532465150	chr18:30555827-30555828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192994301	chr18:30555837-30555838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569076618	chr18:30555838-30555839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569106878	chr18:30555849-30555850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536441638	chr18:30555975-30555976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372388191	chr18:30555983-30555984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554752008	chr18:30555995-30555996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566399099	chr18:30556010-30556011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77070450	chr18:30556105-30556106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558234980	chr18:30556120-30556121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375375641	chr18:30556145-30556146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184848604	chr18:30556152-30556153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545324928	chr18:30556183-30556184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111421669	chr18:30556191-30556192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575476617	chr18:30556199-30556200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542764143	chr18:30556209-30556210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34015120	chr18:30556231-30556232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561440914	chr18:30556254-30556255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189603280	chr18:30556276-30556277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540643924	chr18:30556394-30556395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565163394	chr18:30556404-30556405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562945239	chr18:30556432-30556433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs180680368	chr18:30556433-30556434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574904007	chr18:30556487-30556488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569170855	chr18:30556508-30556509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529918907	chr18:30556511-30556512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8088820	chr18:30556574-30556575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74437195	chr18:30556595-30556596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200631624	chr18:30556735-30556736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183866944	chr18:30556768-30556769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552231308	chr18:30556857-30556858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570390813	chr18:30556898-30556899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139990954	chr18:30556919-30556920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Cancer	20164919	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30553600-30555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:30553600-30555200	Enhancers	Fetal Lung	lung
3	chr18:30554000-30555800	Enhancers	Fetal Kidney	kidney
4	chr18:30554400-30555200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:30554400-30555400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:30554400-30555400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr18:30554600-30555200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:30554600-30555200	Enhancers	Fetal Stomach	stomach
9	chr18:30554600-30555400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:30554800-30555200	Enhancers	Primary B cells from peripheral blood	blood
11	chr18:30555000-30555400	Enhancers	Fetal Brain Male	brain
12	chr18:30555200-30555400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:30555200-30556200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:30555200-30562800	Weak transcription	Fetal Lung	lung
15	chr18:30555400-30557000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:30556200-30556400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:30556400-30556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:30556800-30557800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:30557400-30558200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr18:30557600-30557800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:30557600-30558000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr18:30562000-30562600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:30562800-30563800	Enhancers	Fetal Lung	lung
24	chr18:30565200-30566200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:30574400-30575200	Enhancers	Brain Germinal Matrix	brain
26	chr18:30578000-30578400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr18:30589600-30591800	Enhancers	NH-A	brain
28	chr18:30589600-30592000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr18:30589600-30592200	Enhancers	HUVEC	blood vessel
30	chr18:30589800-30591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:30589800-30592000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr18:30589800-30592000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr18:30589800-30593800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:30590000-30591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:30590000-30592000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr18:30590000-30592000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr18:30590200-30590600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:30590200-30591200	Enhancers	Fetal Heart	heart
39	chr18:30590200-30591800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:30590400-30591800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr18:30590400-30592000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr18:30590600-30591200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr18:30590600-30591600	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr18:30591200-30591600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr18:30591400-30592000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:30591600-30592000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr18:30591800-30593600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:30592200-30593200	Weak transcription	HUVEC	blood vessel
49	chr18:30593200-30593800	Enhancers	HUVEC	blood vessel
50	chr18:30593200-30594400	Enhancers	Stomach Mucosa	stomach

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