Variant report

Variant	nsv968305
Chromosome Location	chr5:49966431-49968246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:49962787..49964612-chr5:49967934..49969609,2	MCF-7	breast:
2	chr5:49965470..49967570-chr5:49976528..49979367,2	MCF-7	breast:
3	chr5:49966970..49969642-chr5:50045524..50047649,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151883	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190754821	chr5:49966445-49966446	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183358189	chr5:49966464-49966465	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574007983	chr5:49966486-49966487	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73098956	chr5:49966560-49966561	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114330011	chr5:49966610-49966611	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190623882	chr5:49966623-49966624	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551224903	chr5:49966744-49966745	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4590146	chr5:49966765-49966766	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530496245	chr5:49966777-49966778	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550566796	chr5:49966798-49966799	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs567112000	chr5:49966854-49966855	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573591031	chr5:49966867-49966868	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536553571	chr5:49966895-49966896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs546913677	chr5:49966902-49966903	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs376266689	chr5:49966920-49966921	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs566713628	chr5:49966925-49966926	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs369149225	chr5:49966944-49966945	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557996800	chr5:49967035-49967036	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs578064260	chr5:49967044-49967045	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537113613	chr5:49967074-49967075	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs557331545	chr5:49967117-49967118	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183234671	chr5:49967165-49967166	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs542958455	chr5:49967169-49967170	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141228081	chr5:49967182-49967183	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188158368	chr5:49967199-49967200	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545607721	chr5:49967210-49967211	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62366939	chr5:49967235-49967236	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530640729	chr5:49967278-49967279	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10070517	chr5:49967291-49967292	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs7449019	chr5:49967295-49967296	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs545306605	chr5:49967300-49967301	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529703245	chr5:49967309-49967310	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546950280	chr5:49967316-49967317	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200018877	chr5:49967337-49967338	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201347947	chr5:49967338-49967339	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201628825	chr5:49967339-49967340	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199994493	chr5:49967350-49967351	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199529404	chr5:49967351-49967352	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114807615	chr5:49967377-49967378	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146785402	chr5:49967442-49967443	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552362779	chr5:49967479-49967480	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192922097	chr5:49967577-49967578	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537553354	chr5:49967671-49967672	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184144132	chr5:49967802-49967803	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs113613578	chr5:49967808-49967809	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs186856914	chr5:49967809-49967810	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs552922855	chr5:49967812-49967813	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs140628922	chr5:49967822-49967823	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs571002524	chr5:49967824-49967825	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs13166556	chr5:49967825-49967826	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49964200-49968000	Weak transcription	Spleen	Spleen
2	chr5:49964400-49967800	Weak transcription	Stomach Mucosa	stomach
3	chr5:49964400-49968000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:49964400-49970000	Weak transcription	Aorta	Aorta
5	chr5:49964400-49975400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:49964400-49977400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:49964400-49982400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:49964400-49983400	Weak transcription	Esophagus	oesophagus
9	chr5:49964600-49969000	Weak transcription	Osteobl	bone
10	chr5:49964800-49966800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:49964800-49967000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:49964800-49967000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr5:49964800-49967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:49964800-49967800	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:49964800-49968000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:49964800-49968200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:49964800-49968200	Weak transcription	Fetal Stomach	stomach
18	chr5:49964800-49968800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:49964800-49969200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:49964800-49969200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:49964800-49970800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:49964800-49976200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:49964800-49976600	Weak transcription	NHDF-Ad	bronchial
24	chr5:49964800-49977600	Weak transcription	Brain Anterior Caudate	brain
25	chr5:49964800-49977800	Weak transcription	Fetal Brain Male	brain
26	chr5:49965000-49966800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:49965000-49967800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:49965000-49970200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:49965400-49967800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr5:49965400-49968400	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:49965400-49968400	Weak transcription	Small Intestine	intestine
32	chr5:49965400-49969400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:49965600-49967000	Active TSS	GM12878-XiMat	blood
34	chr5:49965600-49967400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:49965600-49967800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:49965600-49967800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:49965600-49967800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr5:49965600-49968000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:49965600-49968000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:49965600-49968000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:49965600-49968000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:49965600-49968000	Weak transcription	Fetal Heart	heart
43	chr5:49965600-49968200	Weak transcription	Fetal Intestine Large	intestine
44	chr5:49965600-49968600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:49965600-49976400	Weak transcription	HMEC	breast
46	chr5:49965800-49966600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:49965800-49967000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr5:49965800-49967000	Enhancers	Primary T cells from cord blood	blood
49	chr5:49965800-49967200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:49965800-49967400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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