Variant report

Variant	nsv962961
Chromosome Location	chr18:29279956-29286911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 242 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112834644	chr18:29280013-29280014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368751144	chr18:29280134-29280135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552447186	chr18:29280175-29280176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184827260	chr18:29280181-29280182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189781687	chr18:29280197-29280198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192270833	chr18:29280223-29280224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545032616	chr18:29280243-29280244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184517214	chr18:29280255-29280256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563417597	chr18:29280322-29280323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575305535	chr18:29280369-29280370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145829341	chr18:29280395-29280396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80300524	chr18:29280396-29280397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143390766	chr18:29280398-29280399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535864652	chr18:29280419-29280420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12962586	chr18:29280421-29280422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557644424	chr18:29280429-29280430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12962594	chr18:29280431-29280432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369910614	chr18:29280432-29280433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372274671	chr18:29280433-29280434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376813811	chr18:29280435-29280436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112037859	chr18:29280437-29280438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71384905	chr18:29280441-29280442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369468596	chr18:29280442-29280443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528276721	chr18:29280505-29280506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374133771	chr18:29280515-29280516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546869325	chr18:29280519-29280520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528059001	chr18:29280536-29280537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113695966	chr18:29280550-29280551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112385577	chr18:29280551-29280552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565073765	chr18:29280561-29280562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181953053	chr18:29280566-29280567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569430266	chr18:29280597-29280598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11081708	chr18:29280601-29280602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs11873601	chr18:29280613-29280614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs145094427	chr18:29280660-29280661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187203881	chr18:29280708-29280709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139024901	chr18:29280710-29280711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567846738	chr18:29280711-29280712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573593825	chr18:29280714-29280715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149016300	chr18:29280715-29280716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1791182	chr18:29280754-29280755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372265768	chr18:29280795-29280796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114319489	chr18:29280802-29280803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373025212	chr18:29280809-29280810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556901031	chr18:29280825-29280826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548661087	chr18:29280832-29280833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575241278	chr18:29280840-29280841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73956433	chr18:29281022-29281023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554810581	chr18:29281054-29281055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572984680	chr18:29281073-29281074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29267200-29282600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr18:29276200-29282400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr18:29279600-29280000	Enhancers	Stomach Mucosa	stomach
4	chr18:29279800-29281000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr18:29279800-29282400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr18:29280400-29280600	Enhancers	Esophagus	oesophagus
7	chr18:29281000-29281200	Enhancers	K562	blood
8	chr18:29281000-29283000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr18:29281200-29281400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr18:29281200-29281400	ZNF genes & repeats	Aorta	Aorta
11	chr18:29281200-29281400	Enhancers	Esophagus	oesophagus
12	chr18:29281200-29282200	Weak transcription	K562	blood
13	chr18:29281200-29282800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr18:29281400-29282600	Weak transcription	Aorta	Aorta
15	chr18:29281400-29290400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:29282200-29282600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr18:29282200-29283800	Enhancers	K562	blood
18	chr18:29282200-29284000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr18:29282400-29282800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:29282400-29284000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr18:29282400-29284000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr18:29282400-29284000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr18:29282600-29283000	Enhancers	Primary T cells from cord blood	blood
24	chr18:29282600-29283000	ZNF genes & repeats	Aorta	Aorta
25	chr18:29282600-29283000	Enhancers	Thymus	Thymus
26	chr18:29282600-29283800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr18:29282600-29283800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr18:29282600-29284000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr18:29282800-29283000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr18:29283000-29290400	Weak transcription	Aorta	Aorta
31	chr18:29283200-29283600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr18:29283400-29284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:29283600-29283800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr18:29283800-29290400	Weak transcription	K562	blood
35	chr18:29284000-29285000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:29285000-29285200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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