Variant report

Variant	esv275533
Chromosome Location	chr13:30449638-30452454
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	chr13:30436149..30438044-chr13:30448324..30450735,2	MCF-7	breast:
2	chr13:30447631..30451155-chr13:30452905..30455154,3	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532770308	chr13:30449686-30449687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187029022	chr13:30449718-30449719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150158468	chr13:30449795-30449796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138636956	chr13:30449805-30449806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149331830	chr13:30449831-30449832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115945354	chr13:30449840-30449841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74042846	chr13:30449841-30449842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550799643	chr13:30449850-30449851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34396373	chr13:30449859-30449860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs66482280	chr13:30449961-30449962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138069971	chr13:30450110-30450111	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553040976	chr13:30450191-30450192	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1570614	chr13:30450201-30450202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555503683	chr13:30450222-30450223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141999440	chr13:30450276-30450277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371138734	chr13:30450329-30450330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557617007	chr13:30450346-30450347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116005521	chr13:30450350-30450351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142778778	chr13:30450488-30450489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559737423	chr13:30450489-30450490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573163797	chr13:30450490-30450491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367718875	chr13:30450531-30450532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs118084138	chr13:30450541-30450542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562259094	chr13:30450558-30450559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191799424	chr13:30450608-30450609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369636768	chr13:30450633-30450634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551044320	chr13:30450649-30450650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79724542	chr13:30450673-30450674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533341800	chr13:30450692-30450693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185068305	chr13:30450701-30450702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374071879	chr13:30450736-30450737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371452331	chr13:30450754-30450755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35326764	chr13:30450770-30450771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530807053	chr13:30450838-30450839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544033574	chr13:30450846-30450847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150621997	chr13:30450855-30450856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569033556	chr13:30450882-30450883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537687512	chr13:30450897-30450898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139982284	chr13:30450906-30450907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577013527	chr13:30450926-30450927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149862094	chr13:30450930-30450931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533654739	chr13:30450942-30450943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9551758	chr13:30450957-30450958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573301314	chr13:30450973-30450974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564243606	chr13:30450999-30451000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542506561	chr13:30451015-30451016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10161838	chr13:30451082-30451083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9550501	chr13:30451129-30451130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs190305172	chr13:30451133-30451134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9550502	chr13:30451146-30451147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30447600-30451600	Weak transcription	Stomach Mucosa	stomach
2	chr13:30449000-30450000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:30449000-30450000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:30449000-30450200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:30449000-30450200	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:30449000-30450200	Enhancers	Brain Hippocampus Middle	brain
7	chr13:30449000-30450400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:30449000-30450400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:30449000-30450600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:30449200-30449800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:30449200-30449800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:30449200-30450200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:30449200-30450600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:30449200-30450600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:30449200-30451000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr13:30449400-30449800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:30449400-30450000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:30449400-30450000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:30449400-30450200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:30449400-30450200	Enhancers	HMEC	breast
21	chr13:30449400-30450400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr13:30449400-30450600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:30449600-30449800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:30449600-30449800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:30449600-30450000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:30449600-30450200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr13:30449600-30450200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr13:30449600-30450200	Enhancers	Brain Substantia Nigra	brain
29	chr13:30449600-30450200	Enhancers	NHEK	skin
30	chr13:30449600-30452600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:30449600-30458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr13:30449800-30451600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr13:30449800-30451800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr13:30449800-30451800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:30449800-30451800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:30450000-30450200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
37	chr13:30450000-30450200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:30450000-30457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr13:30450200-30451400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr13:30450200-30451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:30450200-30451600	Weak transcription	NHEK	skin
42	chr13:30450200-30451800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:30450200-30451800	Weak transcription	Brain Hippocampus Middle	brain
44	chr13:30450200-30452000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr13:30450400-30451600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:30450400-30451600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:30450400-30451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr13:30450400-30452400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:30450600-30451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr13:30450600-30451600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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