Variant report

Variant	nsv969245
Chromosome Location	chr5:116796952-116800030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:116798602..116800963-chr5:116821842..116823358,2	MCF-7	breast:
2	chr5:116789826..116792355-chr5:116793817..116797383,4	MCF-7	breast:
3	chr5:116798578..116800970-chr5:116815011..116816649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248663	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572765835	chr5:116796991-116796992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539879740	chr5:116797001-116797002	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs188598595	chr5:116797039-116797040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572662037	chr5:116797045-116797046	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541660555	chr5:116797061-116797062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs192674175	chr5:116797068-116797069	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184913173	chr5:116797100-116797101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs544014535	chr5:116797201-116797202	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112450477	chr5:116797214-116797215	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532622507	chr5:116797258-116797259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545892646	chr5:116797287-116797288	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559659292	chr5:116797304-116797305	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529023515	chr5:116797309-116797310	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528473582	chr5:116797323-116797324	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547710370	chr5:116797353-116797354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375108114	chr5:116797376-116797377	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs372315140	chr5:116797394-116797395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548751881	chr5:116797451-116797452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549538612	chr5:116797452-116797453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572514645	chr5:116797464-116797465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569430309	chr5:116797511-116797512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563830961	chr5:116797525-116797526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570119718	chr5:116797579-116797580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs750601	chr5:116797614-116797615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187707399	chr5:116797662-116797663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534311419	chr5:116797754-116797755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555334699	chr5:116797766-116797767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191473294	chr5:116797795-116797796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2560513	chr5:116797829-116797830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557554531	chr5:116797844-116797845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2624507	chr5:116797875-116797876	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528907498	chr5:116797929-116797930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559583636	chr5:116797970-116797971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573222106	chr5:116798001-116798002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541834445	chr5:116798020-116798021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534997455	chr5:116798069-116798070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546724679	chr5:116798093-116798094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184329913	chr5:116798114-116798115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141054185	chr5:116798140-116798141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549571511	chr5:116798161-116798162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116057539	chr5:116798187-116798188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2560512	chr5:116798241-116798242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs189694507	chr5:116798277-116798278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2624508	chr5:116798294-116798295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575070961	chr5:116798296-116798297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561397514	chr5:116798339-116798340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149848942	chr5:116798344-116798345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73256882	chr5:116798364-116798365	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs539267233	chr5:116798440-116798441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377326561	chr5:116798445-116798446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116791000-116797800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:116791600-116797000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:116791800-116799400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:116796800-116797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:116797000-116797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:116797000-116797400	Enhancers	GM12878-XiMat	blood
7	chr5:116797200-116798400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:116797200-116798800	Weak transcription	HSMM	muscle
9	chr5:116797600-116798000	Enhancers	Brain Angular Gyrus	brain
10	chr5:116797800-116798000	Enhancers	Brain Anterior Caudate	brain
11	chr5:116797800-116798000	Enhancers	Brain Substantia Nigra	brain
12	chr5:116798000-116799000	Weak transcription	Brain Substantia Nigra	brain
13	chr5:116798000-116799600	Weak transcription	Brain Anterior Caudate	brain
14	chr5:116798400-116799600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:116798800-116800400	Enhancers	HSMM	muscle
16	chr5:116799000-116800400	Enhancers	Brain Substantia Nigra	brain
17	chr5:116799200-116800200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:116799200-116800200	Enhancers	Brain Germinal Matrix	brain
19	chr5:116799400-116800200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:116799400-116800200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:116799400-116800400	Enhancers	Fetal Brain Male	brain
22	chr5:116799400-116801000	Enhancers	Rectal Smooth Muscle	rectum
23	chr5:116799600-116800000	Enhancers	HSMMtube	muscle
24	chr5:116799600-116800200	Enhancers	Brain Hippocampus Middle	brain
25	chr5:116799600-116800400	Enhancers	Adipose Nuclei	Adipose
26	chr5:116799600-116800400	Enhancers	Brain Anterior Caudate	brain
27	chr5:116799600-116800400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:116799600-116800400	Enhancers	Fetal Brain Female	brain
29	chr5:116799600-116800400	Enhancers	Fetal Stomach	stomach
30	chr5:116799600-116801000	Enhancers	Colon Smooth Muscle	Colon
31	chr5:116799800-116800000	Enhancers	Brain Angular Gyrus	brain
32	chr5:116799800-116800200	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:116799800-116800400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:116800000-116800400	Enhancers	Fetal Muscle Leg	muscle

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