Variant report

Variant	nsv517980
Chromosome Location	chr18:334742-338132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:330383..333322-chr18:336315..339343,3	K562	blood:
2	chr18:335359..337501-chr18:339395..341779,2	MCF-7	breast:
3	chr18:331753..333322-chr18:336315..338965,2	K562	blood:
4	chr18:333834..337765-chr18:338679..342822,4	K562	blood:

Extended variants
information (count: 159 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17857498	chr18:334742-334743	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111326400	chr18:334748-334749	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139503424	chr18:334752-334753	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202095805	chr18:334753-334754	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2305026	chr18:334758-334759	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372108934	chr18:334759-334760	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113099491	chr18:334761-334762	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34927841	chr18:334787-334788	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377719221	chr18:334795-334796	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148864903	chr18:334803-334804	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145828426	chr18:334837-334838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371378896	chr18:334846-334847	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200696806	chr18:334873-334874	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574274234	chr18:334886-334887	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569458748	chr18:334887-334888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376499684	chr18:334893-334894	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531789462	chr18:334900-334901	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186088998	chr18:334901-334902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568633542	chr18:334906-334907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368847416	chr18:334940-334941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199637152	chr18:334944-334945	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369236821	chr18:334966-334967	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566070829	chr18:334974-334975	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201423550	chr18:334983-334984	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2305025	chr18:334994-334995	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376978607	chr18:335075-335076	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188943034	chr18:335093-335094	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8098850	chr18:335099-335100	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565737372	chr18:335116-335117	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201838623	chr18:335126-335127	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573805274	chr18:335170-335171	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540934240	chr18:335182-335183	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559261134	chr18:335190-335191	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5822558	chr18:335244-335245	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs397707628	chr18:335249-335250	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201772201	chr18:335250-335251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7232394	chr18:335266-335267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs200663345	chr18:335271-335272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2012143	chr18:335316-335317	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7244797	chr18:335340-335341	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7232553	chr18:335363-335364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181537870	chr18:335401-335402	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115832808	chr18:335410-335411	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs732541	chr18:335421-335422	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs376233779	chr18:335430-335431	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56961017	chr18:335473-335474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566407455	chr18:335486-335487	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186617348	chr18:335492-335493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377411919	chr18:335507-335508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570025247	chr18:335530-335531	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:314400-335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr18:317600-346200	Weak transcription	Fetal Brain Male	brain
3	chr18:317800-348600	Weak transcription	Gastric	stomach
4	chr18:318000-345800	Weak transcription	Fetal Intestine Small	intestine
5	chr18:323200-345800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:326000-335000	Weak transcription	Aorta	Aorta
7	chr18:331800-335600	Weak transcription	Lung	lung
8	chr18:332000-335400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr18:332200-336200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr18:332400-336800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr18:332600-335400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr18:332800-335400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr18:332800-335600	Weak transcription	HUVEC	blood vessel
14	chr18:332800-336000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr18:332800-336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:332800-339400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:333400-334800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:333400-334800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:333400-341000	Weak transcription	Pancreas	Pancrea
20	chr18:333400-341200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr18:333400-342600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:333400-350200	Weak transcription	Fetal Kidney	kidney
23	chr18:333600-336600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr18:333600-337200	Weak transcription	Adipose Nuclei	Adipose
25	chr18:333600-337600	Weak transcription	Colon Smooth Muscle	Colon
26	chr18:333800-337200	Weak transcription	Brain Substantia Nigra	brain
27	chr18:333800-339600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr18:333800-345000	Weak transcription	Osteobl	bone
29	chr18:334000-335800	Genic enhancers	Placenta	Placenta
30	chr18:334000-336800	Weak transcription	Brain Anterior Caudate	brain
31	chr18:334200-336000	Strong transcription	Fetal Stomach	stomach
32	chr18:334200-338200	Weak transcription	NHDF-Ad	bronchial
33	chr18:334400-334800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr18:334400-335600	Weak transcription	Fetal Lung	lung
35	chr18:334600-335200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:334600-335200	Strong transcription	Fetal Intestine Large	intestine
37	chr18:334600-337800	Strong transcription	Fetal Muscle Leg	muscle
38	chr18:334800-335800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:334800-336400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr18:335200-345600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr18:335200-345800	Weak transcription	Fetal Intestine Large	intestine
42	chr18:335400-336000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr18:335400-337400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr18:335400-337600	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr18:335400-337800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr18:335600-335800	Genic enhancers	Lung	lung
47	chr18:335600-336000	Strong transcription	Fetal Lung	lung
48	chr18:335600-336400	Enhancers	HUVEC	blood vessel
49	chr18:335800-342600	Weak transcription	Placenta	Placenta
50	chr18:335800-343000	Weak transcription	Lung	lung

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