Variant report

Variant	nsv528336
Chromosome Location	chr13:30194288-30226498
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:
2	chr13:30214449..30216128-chr13:30220444..30222656,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTUS2-3	chr13:30221772-30221861	NONHSAT032746
2	lnc-MTUS2-3	chr13:30221778-30221861	NONHSAT032747

Extended variants
information (count: 511 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs280942	chr13:30194288-30194289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544152987	chr13:30194361-30194362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564422555	chr13:30194366-30194367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533120740	chr13:30194376-30194377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9314964	chr13:30194401-30194402	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180896297	chr13:30194410-30194411	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528987867	chr13:30194417-30194418	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs78730266	chr13:30194432-30194433	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35542156	chr13:30194454-30194455	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111844424	chr13:30194511-30194512	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141053031	chr13:30194556-30194557	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550957040	chr13:30194606-30194607	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570817563	chr13:30194618-30194619	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539595570	chr13:30194641-30194642	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553145566	chr13:30194659-30194660	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184723561	chr13:30194660-30194661	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs535558490	chr13:30194675-30194676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555853916	chr13:30194703-30194704	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563956743	chr13:30194731-30194732	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567541135	chr13:30194745-30194746	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117385874	chr13:30194766-30194767	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114151792	chr13:30194796-30194797	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79654518	chr13:30194799-30194800	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs280943	chr13:30194831-30194832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189755518	chr13:30194845-30194846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560372418	chr13:30194878-30194879	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs145688110	chr13:30194887-30194888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558889548	chr13:30194918-30194919	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs71434734	chr13:30194931-30194932	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs567006828	chr13:30194938-30194939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs56068895	chr13:30194945-30194946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs368623747	chr13:30195031-30195032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562616608	chr13:30195103-30195104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112271482	chr13:30195167-30195168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11842001	chr13:30195181-30195182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201599618	chr13:30195186-30195187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76165290	chr13:30195202-30195203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71090267	chr13:30195205-30195206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570953683	chr13:30195235-30195236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149133648	chr13:30195255-30195256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566709019	chr13:30195260-30195261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371440871	chr13:30195266-30195267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566698779	chr13:30195366-30195367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181872133	chr13:30195402-30195403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143244810	chr13:30195428-30195429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575697326	chr13:30195429-30195430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186901236	chr13:30195450-30195451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538001733	chr13:30195454-30195455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558174541	chr13:30195467-30195468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578095462	chr13:30195468-30195469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Squamous cell cancer	20885788	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Malignant glioma	17146433	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Retinoblastoma	22278416	CNVD
Peters Plus syndrome	16909395	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Ovarian cancer	19047089	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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	chr13:30193400-30196400	Enhancers	NHDF-Ad	bronchial
2	chr13:30193600-30194600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:30193800-30194400	Enhancers	NH-A	brain
4	chr13:30193800-30196400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:30193800-30197000	Enhancers	Osteobl	bone
6	chr13:30194000-30195600	Enhancers	HSMM	muscle
7	chr13:30194200-30195600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:30194200-30195600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:30194200-30196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr13:30194400-30194800	Flanking Active TSS	NH-A	brain
11	chr13:30194400-30196600	Enhancers	NHEK	skin
12	chr13:30194600-30194800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:30194600-30195000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:30194600-30195000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:30194600-30196400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:30194800-30195200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:30194800-30195600	Enhancers	NH-A	brain
18	chr13:30194800-30195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:30195000-30196400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:30195000-30198800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30195200-30195400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:30195400-30195800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:30195800-30196200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:30195800-30198800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:30197000-30199000	Weak transcription	Osteobl	bone
26	chr13:30198600-30199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:30198800-30199400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:30198800-30199600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:30199000-30199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:30199000-30199600	Enhancers	Osteobl	bone
31	chr13:30199400-30199600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr13:30210400-30210600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:30210400-30211200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:30210600-30210800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr13:30214600-30215000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr13:30214800-30215600	Enhancers	HUVEC	blood vessel
37	chr13:30220800-30226800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:30221600-30222000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr13:30221600-30222000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:30221600-30222000	Active TSS	Primary T cells from cord blood	blood
41	chr13:30221600-30222200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr13:30221600-30222400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr13:30221600-30222400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:30221600-30222600	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr13:30221600-30222800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:30221800-30222000	Bivalent/Poised TSS	HUVEC	blood vessel
48	chr13:30221800-30222200	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr13:30221800-30222200	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr13:30221800-30222200	Active TSS	Fetal Thymus	thymus

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