Variant report

Variant	esv3502539
Chromosome Location	chr13:30984552-30988050
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30982422..30984864-chr13:31126222..31128505,2	MCF-7	breast:
2	chr13:30984199..30986821-chr13:31040694..31043436,2	K562	blood:
3	chr13:30986896..30990886-chr13:30991791..30995156,4	K562	blood:
4	chr13:30986809..30988402-chr13:30995309..30997032,2	MCF-7	breast:
5	chr13:30981599..30985158-chr13:30990807..30993818,4	K562	blood:
6	chr13:30983718..30985793-chr13:30990112..30992052,2	MCF-7	breast:
7	chr13:30981012..30985538-chr13:31190181..31193440,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224117	chromatin interactions
ENSG00000189403	chromatin interactions
ENSG00000132952	chromatin interactions
ENSG00000225039	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567500308	chr13:30984561-30984562	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs112644137	chr13:30984594-30984595	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556613523	chr13:30984609-30984610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs144354441	chr13:30984613-30984614	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs9508732	chr13:30984642-30984643	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539030276	chr13:30984686-30984687	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558643855	chr13:30984700-30984701	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs572324686	chr13:30984729-30984730	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs150716207	chr13:30984737-30984738	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs368903689	chr13:30984738-30984739	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs561099034	chr13:30984748-30984749	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373746868	chr13:30984754-30984755	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs68107497	chr13:30984755-30984756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs75220818	chr13:30984759-30984760	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs71093055	chr13:30984803-30984804	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs67275858	chr13:30984804-30984805	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543589001	chr13:30984805-30984806	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs184726980	chr13:30984825-30984826	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12430682	chr13:30984827-30984828	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs552166318	chr13:30984883-30984884	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189993152	chr13:30984897-30984898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs78657972	chr13:30984920-30984921	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs547670819	chr13:30984948-30984949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs141926530	chr13:30984967-30984968	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs149884563	chr13:30984985-30984986	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561801655	chr13:30985107-30985108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530231470	chr13:30985171-30985172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs371171505	chr13:30985205-30985206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs17074595	chr13:30985211-30985212	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182168717	chr13:30985224-30985225	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs185122145	chr13:30985229-30985230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189588832	chr13:30985301-30985302	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181856647	chr13:30985375-30985376	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554899776	chr13:30985409-30985410	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55923400	chr13:30985479-30985480	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs9550565	chr13:30985522-30985523	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs35790225	chr13:30985529-30985530	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530651162	chr13:30985559-30985560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185397445	chr13:30985585-30985586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540490477	chr13:30985588-30985589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543827500	chr13:30985592-30985593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540283972	chr13:30985599-30985600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78985385	chr13:30985662-30985663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532673497	chr13:30985722-30985723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544555247	chr13:30985723-30985724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145056403	chr13:30985752-30985753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530461215	chr13:30985769-30985770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370885535	chr13:30985816-30985817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9551918	chr13:30985828-30985829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370815333	chr13:30985898-30985899	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30982600-30995200	Weak transcription	HSMMtube	muscle
2	chr13:30983000-30985000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:30983000-30985000	Enhancers	HSMM	muscle
4	chr13:30983000-30985000	Enhancers	NHDF-Ad	bronchial
5	chr13:30983000-30985400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr13:30983000-30989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:30983200-30984600	Enhancers	Fetal Muscle Leg	muscle
8	chr13:30983200-30984800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr13:30983200-30985000	Enhancers	NHEK	skin
10	chr13:30983200-30985600	Enhancers	Osteobl	bone
11	chr13:30983200-30987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr13:30983200-30989400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr13:30983200-30989400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr13:30983200-30995600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr13:30983400-30984600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr13:30983400-30984600	Weak transcription	Right Ventricle	heart
17	chr13:30983400-30984800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:30983400-30984800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr13:30983400-30985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:30983400-30986400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:30983400-30987600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:30983400-30987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:30983600-30984800	Enhancers	Colon Smooth Muscle	Colon
24	chr13:30983600-30985000	Enhancers	Primary B cells from cord blood	blood
25	chr13:30983600-30987400	Weak transcription	Spleen	Spleen
26	chr13:30983800-30984600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr13:30983800-30984800	Enhancers	Hela-S3	cervix
28	chr13:30983800-30985000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr13:30983800-30985800	Weak transcription	Aorta	Aorta
30	chr13:30983800-30986200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:30984000-30984600	Enhancers	Fetal Muscle Trunk	muscle
32	chr13:30984000-30984800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:30984000-30984800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr13:30984000-30985600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr13:30984000-30987800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr13:30984000-30995000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr13:30984200-30984800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:30984200-30984800	Weak transcription	NHLF	lung
39	chr13:30984200-30985000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:30984200-30988800	Weak transcription	Fetal Thymus	thymus
41	chr13:30984400-30985200	Enhancers	Adipose Nuclei	Adipose
42	chr13:30984400-30989600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:30984600-30984800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:30984600-30984800	Enhancers	Right Ventricle	heart
45	chr13:30984600-30986400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr13:30984800-30985000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:30984800-30985000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr13:30984800-30985000	Enhancers	NHLF	lung
49	chr13:30984800-30987400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr13:30984800-30992000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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