Variant report

Variant	nsv1057063
Chromosome Location	chr18:30280311-30304435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30293724..30294417-chr18:30499835..30500382,2	MCF-7	breast:
2	chr18:30294450..30295198-chr18:30499539..30500758,7	MCF-7	breast:
3	chr18:30262728..30263606-chr18:30294291..30295005,2	MCF-7	breast:
4	chr18:30295209..30296136-chr18:30349960..30350509,2	MCF-7	breast:
5	chr18:30294211..30294986-chr18:30781366..30782176,2	MCF-7	breast:
6	chr18:30294270..30295293-chr18:30499582..30500548,5	MCF-7	breast:

Extended variants
information (count: 863 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:863 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9961467	chr18:30280311-30280312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148888728	chr18:30280313-30280314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577051980	chr18:30280334-30280335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181165892	chr18:30280351-30280352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113871030	chr18:30280367-30280368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs34785199	chr18:30280390-30280391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574642406	chr18:30280395-30280396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552042517	chr18:30280408-30280409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560259854	chr18:30280478-30280479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527409071	chr18:30280500-30280501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143545056	chr18:30280525-30280526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184770722	chr18:30280528-30280529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531214562	chr18:30280560-30280561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189295925	chr18:30280589-30280590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551217344	chr18:30280626-30280627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569226204	chr18:30280676-30280677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530204731	chr18:30280701-30280702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560965395	chr18:30280780-30280781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548403273	chr18:30280785-30280786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375841572	chr18:30280788-30280789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566612122	chr18:30280818-30280819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534342838	chr18:30280826-30280827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150972592	chr18:30280835-30280836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79043243	chr18:30280838-30280839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537861044	chr18:30280894-30280895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180806327	chr18:30280945-30280946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141114687	chr18:30280999-30281000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16963709	chr18:30281091-30281092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542021778	chr18:30281093-30281094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554042257	chr18:30281127-30281128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572169879	chr18:30281150-30281151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545838802	chr18:30281153-30281154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564038296	chr18:30281163-30281164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559582891	chr18:30281179-30281180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575960823	chr18:30281192-30281193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543073822	chr18:30281204-30281205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144851159	chr18:30281268-30281269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138254568	chr18:30281287-30281288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60090863	chr18:30281333-30281334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560359718	chr18:30281353-30281354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371185127	chr18:30281381-30281382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527883066	chr18:30281385-30281386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs983164	chr18:30281386-30281387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374754218	chr18:30281423-30281424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80038899	chr18:30281486-30281487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538208472	chr18:30281508-30281509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142742619	chr18:30281581-30281582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568344030	chr18:30281601-30281602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535798591	chr18:30281766-30281767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554113530	chr18:30281783-30281784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Prostate cancer	22341455	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30260400-30282200	Weak transcription	Fetal Kidney	kidney
2	chr18:30275400-30284000	Weak transcription	Primary B cells from cord blood	blood
3	chr18:30276000-30284200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr18:30277200-30286000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:30278800-30287400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr18:30280200-30280400	Enhancers	Fetal Brain Male	brain
7	chr18:30280200-30282800	Weak transcription	HepG2	liver
8	chr18:30280600-30281200	Weak transcription	Fetal Brain Male	brain
9	chr18:30281200-30281400	Enhancers	Fetal Brain Male	brain
10	chr18:30281200-30281600	Enhancers	Brain Cingulate Gyrus	brain
11	chr18:30281400-30281600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr18:30281400-30285000	Weak transcription	Fetal Brain Male	brain
13	chr18:30282800-30283600	Strong transcription	HepG2	liver
14	chr18:30283600-30286000	Weak transcription	HepG2	liver
15	chr18:30284000-30284600	Enhancers	Primary B cells from cord blood	blood
16	chr18:30284200-30285000	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:30284600-30284800	Weak transcription	Primary B cells from cord blood	blood
18	chr18:30284800-30285000	Genic enhancers	Primary B cells from cord blood	blood
19	chr18:30285000-30285800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr18:30285000-30289800	Strong transcription	Primary B cells from cord blood	blood
21	chr18:30285800-30286200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr18:30286000-30288400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:30286000-30289000	Strong transcription	HepG2	liver
24	chr18:30286200-30294200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr18:30286800-30287600	Enhancers	Stomach Mucosa	stomach
26	chr18:30286800-30287800	Enhancers	Pancreas	Pancrea
27	chr18:30287400-30287800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr18:30288400-30299400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:30289000-30292400	Weak transcription	HepG2	liver
30	chr18:30289800-30291000	Weak transcription	Primary B cells from cord blood	blood
31	chr18:30291000-30293000	Strong transcription	Primary B cells from cord blood	blood
32	chr18:30292400-30293200	Strong transcription	HepG2	liver
33	chr18:30293000-30294200	Weak transcription	Primary B cells from cord blood	blood
34	chr18:30293200-30294200	Weak transcription	HepG2	liver
35	chr18:30294000-30295200	Enhancers	Dnd41	blood
36	chr18:30294200-30294400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:30294200-30294800	Enhancers	Primary B cells from cord blood	blood
38	chr18:30294200-30294800	Enhancers	Primary B cells from peripheral blood	blood
39	chr18:30294200-30295400	Enhancers	HepG2	liver
40	chr18:30294400-30294600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:30294400-30294600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:30294400-30295000	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr18:30294600-30295000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:30294800-30299600	Weak transcription	Primary B cells from cord blood	blood
45	chr18:30294800-30306800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr18:30295400-30299600	Weak transcription	HepG2	liver
47	chr18:30299400-30301400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:30299600-30301200	Strong transcription	HepG2	liver
49	chr18:30299600-30305800	Strong transcription	Primary B cells from cord blood	blood
50	chr18:30300600-30301400	Enhancers	Fetal Heart	heart

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