Variant report

Variant	nsv328931
Chromosome Location	chr5:97837626-97844231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 246 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs575935663	chr5:97837626-97837627	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112082536	chr5:97837632-97837633	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528557449	chr5:97837634-97837635	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547290557	chr5:97837635-97837636	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116125008	chr5:97837637-97837638	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114527958	chr5:97837643-97837644	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143852210	chr5:97837648-97837649	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112748937	chr5:97837679-97837680	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376213838	chr5:97837687-97837688	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148214934	chr5:97837724-97837725	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372477384	chr5:97837726-97837727	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536628790	chr5:97837775-97837776	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs202094785	chr5:97837796-97837797	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77966229	chr5:97837807-97837808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573679279	chr5:97837808-97837809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577553062	chr5:97837894-97837895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116566374	chr5:97837913-97837914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553604325	chr5:97837925-97837926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578214375	chr5:97837932-97837933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545754726	chr5:97837944-97837945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374470536	chr5:97837966-97837967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563955682	chr5:97837973-97837974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530962263	chr5:97838017-97838018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542677402	chr5:97838019-97838020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201724219	chr5:97838047-97838048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183723324	chr5:97838054-97838055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528587073	chr5:97838055-97838056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546643673	chr5:97838162-97838163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546162851	chr5:97838178-97838179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565586546	chr5:97838210-97838211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532953550	chr5:97838215-97838216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544488550	chr5:97838216-97838217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186598305	chr5:97838261-97838262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386690373	chr5:97838348-97838349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1318105	chr5:97838365-97838366	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548708529	chr5:97838366-97838367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191837906	chr5:97838367-97838368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534464508	chr5:97838378-97838379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147842087	chr5:97838390-97838391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147241764	chr5:97838443-97838444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115035775	chr5:97838471-97838472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1318106	chr5:97838475-97838476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557560696	chr5:97838482-97838483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370127155	chr5:97838547-97838548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75352917	chr5:97838550-97838551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560150627	chr5:97838559-97838560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543264710	chr5:97838579-97838580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561130344	chr5:97838711-97838712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs148036931	chr5:97838718-97838719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573188935	chr5:97838726-97838727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97832200-97838000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:97833800-97839000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:97834200-97839000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:97834400-97837800	Weak transcription	NHDF-Ad	bronchial
5	chr5:97834400-97839400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:97835800-97837800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:97835800-97839000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:97835800-97839400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:97836000-97839200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:97836600-97839600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:97837000-97838400	Enhancers	Fetal Intestine Large	intestine
12	chr5:97837400-97840200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:97837600-97838400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:97837600-97838400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:97837600-97838400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:97837600-97838400	Enhancers	HSMM	muscle
17	chr5:97837600-97839200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:97837800-97838400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:97837800-97838400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:97837800-97838400	Enhancers	Fetal Muscle Leg	muscle
21	chr5:97837800-97838400	Enhancers	NHDF-Ad	bronchial
22	chr5:97837800-97838400	Enhancers	Osteobl	bone
23	chr5:97837800-97839400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:97838000-97844400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:97838200-97838400	Enhancers	Small Intestine	intestine
26	chr5:97838400-97839400	Weak transcription	Fetal Intestine Large	intestine
27	chr5:97839000-97839800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:97839000-97839800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr5:97839000-97839800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:97839200-97839400	Enhancers	Small Intestine	intestine
31	chr5:97839200-97839600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:97839200-97839600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:97839200-97839800	Enhancers	Fetal Intestine Small	intestine
34	chr5:97839200-97839800	Enhancers	Pancreas	Pancrea
35	chr5:97839200-97845400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr5:97839400-97839800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:97839400-97839800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:97839400-97839800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:97839400-97840200	Enhancers	Fetal Intestine Large	intestine
40	chr5:97839400-97840800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:97839600-97840200	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:97839600-97840800	Enhancers	HepG2	liver
43	chr5:97839600-97841000	Enhancers	Stomach Mucosa	stomach
44	chr5:97839600-97845000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:97839800-97840200	Weak transcription	Fetal Intestine Small	intestine
46	chr5:97839800-97841000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:97839800-97844600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:97839800-97845000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:97839800-97845000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:97839800-97845800	Weak transcription	Pancreas	Pancrea

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