Variant report

Variant	nsv969271
Chromosome Location	chr5:118317943-118323256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118322493..118325395-chr5:118402550..118406560,4	K562	blood:
2	chr5:118315792..118320529-chr5:118321733..118325729,5	K562	blood:
3	chr5:118320682..118322479-chr5:118322824..118324515,2	MCF-7	breast:
4	chr5:118315933..118319835-chr5:118323303..118326680,3	MCF-7	breast:
5	chr14:39581660..39583614-chr5:118323067..118325473,2	MCF-7	breast:
6	chr5:118315876..118318901-chr5:118321943..118324259,3	MCF-7	breast:
7	chr5:118322938..118326606-chr5:118602920..118605792,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239011	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000249494	chromatin interactions
ENSG00000169570	chromatin interactions
ENSG00000092208	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:223 , 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	rs74671297	chr5:118317973-118317974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371919581	chr5:118317995-118317996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs80055103	chr5:118318081-118318082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564130079	chr5:118318090-118318091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs144028637	chr5:118318118-118318119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190608892	chr5:118318146-118318147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547195177	chr5:118318159-118318160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183206480	chr5:118318177-118318178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185625926	chr5:118318220-118318221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558986718	chr5:118318270-118318271	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549205295	chr5:118318286-118318287	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs145971040	chr5:118318350-118318351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372712987	chr5:118318381-118318382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537569884	chr5:118318389-118318390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56102830	chr5:118318401-118318402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs60525481	chr5:118318415-118318416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191568903	chr5:118318423-118318424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs372230207	chr5:118318470-118318471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552939508	chr5:118318485-118318486	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573249283	chr5:118318487-118318488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35225359	chr5:118318496-118318497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368569	chr5:118318587-118318588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145377478	chr5:118318604-118318605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149211744	chr5:118318622-118318623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144957256	chr5:118318652-118318653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557407194	chr5:118318658-118318659	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs564058647	chr5:118318728-118318729	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs565621908	chr5:118318730-118318731	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs533035357	chr5:118318736-118318737	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183083918	chr5:118318737-118318738	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560141180	chr5:118318744-118318745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543706439	chr5:118318763-118318764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529216462	chr5:118318816-118318817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78018402	chr5:118318825-118318826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs60895854	chr5:118318835-118318836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546184197	chr5:118318863-118318864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187688269	chr5:118318906-118318907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147867452	chr5:118318909-118318910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs570898817	chr5:118318963-118318964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141567877	chr5:118318980-118318981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552953559	chr5:118319027-118319028	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs566493980	chr5:118319039-118319040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564480845	chr5:118319064-118319065	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532552705	chr5:118319088-118319089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535768383	chr5:118319140-118319141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs555813230	chr5:118319145-118319146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573126563	chr5:118319147-118319148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192348563	chr5:118319164-118319165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575844486	chr5:118319206-118319207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149824658	chr5:118319207-118319208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118304600-118321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:118305200-118320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:118305200-118322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:118309600-118323000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:118310800-118320800	Weak transcription	Hela-S3	cervix
6	chr5:118311400-118322800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:118313000-118323000	Weak transcription	Fetal Heart	heart
8	chr5:118313600-118322200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:118314000-118322400	Weak transcription	Primary T cells from cord blood	blood
10	chr5:118314600-118322400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr5:118314600-118323000	Weak transcription	Brain Angular Gyrus	brain
12	chr5:118314600-118323400	Weak transcription	Aorta	Aorta
13	chr5:118315600-118322800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:118315600-118322800	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:118316000-118323000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:118316000-118323200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:118316200-118321600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:118316200-118323000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr5:118316200-118323200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:118316200-118323400	Weak transcription	Ovary	ovary
21	chr5:118316200-118323800	Weak transcription	Gastric	stomach
22	chr5:118316400-118322000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:118316800-118323000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:118317200-118318000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:118317600-118318000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:118317600-118318200	Enhancers	NHDF-Ad	bronchial
27	chr5:118317800-118320200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:118318000-118318200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:118318000-118319600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:118318200-118320200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:118318200-118320200	Weak transcription	NHDF-Ad	bronchial
32	chr5:118318400-118320000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:118318600-118319400	Enhancers	Dnd41	blood
34	chr5:118318800-118319200	Enhancers	Fetal Thymus	thymus
35	chr5:118318800-118323000	Weak transcription	Fetal Intestine Small	intestine
36	chr5:118319000-118323000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:118319200-118323200	Weak transcription	Fetal Thymus	thymus
38	chr5:118319400-118320800	Weak transcription	Dnd41	blood
39	chr5:118319600-118321000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:118320000-118321000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:118320000-118323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:118320200-118321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:118320200-118321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:118320200-118321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:118320200-118321000	Enhancers	HMEC	breast
46	chr5:118320200-118321000	Enhancers	HSMMtube	muscle
47	chr5:118320200-118321000	Enhancers	NH-A	brain
48	chr5:118320200-118321000	Enhancers	NHEK	skin
49	chr5:118320200-118321000	Enhancers	Osteobl	bone
50	chr5:118320200-118321200	Enhancers	NHDF-Ad	bronchial

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