Variant report

Variant	esv3502540
Chromosome Location	chr13:30985351-30987755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30981012..30985538-chr13:31190181..31193440,4	MCF-7	breast:
2	chr13:30983718..30985793-chr13:30990112..30992052,2	MCF-7	breast:
3	chr13:30986809..30988402-chr13:30995309..30997032,2	MCF-7	breast:
4	chr13:30986896..30990886-chr13:30991791..30995156,4	K562	blood:
5	chr13:30984199..30986821-chr13:31040694..31043436,2	K562	blood:

Variant related genes	Relation type
ENSG00000189403	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000132952	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181856647	chr13:30985375-30985376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554899776	chr13:30985409-30985410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55923400	chr13:30985479-30985480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9550565	chr13:30985522-30985523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs35790225	chr13:30985529-30985530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530651162	chr13:30985559-30985560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185397445	chr13:30985585-30985586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540490477	chr13:30985588-30985589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543827500	chr13:30985592-30985593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540283972	chr13:30985599-30985600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78985385	chr13:30985662-30985663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532673497	chr13:30985722-30985723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544555247	chr13:30985723-30985724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145056403	chr13:30985752-30985753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530461215	chr13:30985769-30985770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370885535	chr13:30985816-30985817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9551918	chr13:30985828-30985829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370815333	chr13:30985898-30985899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141124954	chr13:30985916-30985917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9508733	chr13:30985929-30985930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74843253	chr13:30985955-30985956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78173231	chr13:30985960-30985961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143329162	chr13:30986007-30986008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77741154	chr13:30986043-30986044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528256861	chr13:30986044-30986045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75312514	chr13:30986048-30986049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78785942	chr13:30986051-30986052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74955839	chr13:30986054-30986055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76132312	chr13:30986059-30986060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78426473	chr13:30986062-30986063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78289132	chr13:30986067-30986068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76193488	chr13:30986075-30986076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75753552	chr13:30986076-30986077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75638042	chr13:30986080-30986081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76596861	chr13:30986085-30986086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78983468	chr13:30986095-30986096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs80066592	chr13:30986096-30986097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76945327	chr13:30986105-30986106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76498956	chr13:30986113-30986114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80256899	chr13:30986129-30986130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77161501	chr13:30986133-30986134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77594403	chr13:30986136-30986137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77505091	chr13:30986139-30986140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74332513	chr13:30986166-30986167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74822020	chr13:30986174-30986175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs78096446	chr13:30986191-30986192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77702563	chr13:30986194-30986195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78136517	chr13:30986204-30986205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189709483	chr13:30986223-30986224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78625063	chr13:30986227-30986228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Prostate cancer	18632612	CNVD
Prostate cancer	21147910	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30982600-30995200	Weak transcription	HSMMtube	muscle
2	chr13:30983000-30985400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:30983000-30989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30983200-30985600	Enhancers	Osteobl	bone
5	chr13:30983200-30987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:30983200-30989400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:30983200-30989400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:30983200-30995600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr13:30983400-30986400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:30983400-30987600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:30983400-30987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:30983600-30987400	Weak transcription	Spleen	Spleen
13	chr13:30983800-30985800	Weak transcription	Aorta	Aorta
14	chr13:30983800-30986200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr13:30984000-30985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:30984000-30987800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr13:30984000-30995000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr13:30984200-30988800	Weak transcription	Fetal Thymus	thymus
19	chr13:30984400-30989600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:30984600-30986400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr13:30984800-30987400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr13:30984800-30992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr13:30985000-30986000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr13:30985000-30986000	Weak transcription	Primary B cells from cord blood	blood
25	chr13:30985000-30992600	Weak transcription	NHDF-Ad	bronchial
26	chr13:30985600-30992600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:30985800-30986000	Enhancers	Aorta	Aorta
28	chr13:30986000-30989600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr13:30986000-30989600	Enhancers	Primary B cells from cord blood	blood
30	chr13:30986200-30991400	Enhancers	Primary B cells from peripheral blood	blood
31	chr13:30986400-30986800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr13:30986400-30987600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr13:30987400-30987600	Enhancers	Spleen	Spleen
34	chr13:30987400-30989200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr13:30987600-30988000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr13:30987600-30988400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr13:30987600-30993400	Weak transcription	Spleen	Spleen

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