Variant report

Variant	esv2454960
Chromosome Location	chr13:37547425-37548865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37548342..37549916-chr13:37571782..37574253,2	MCF-7	breast:
2	chr13:37545917..37548370-chr13:37551450..37554036,3	K562	blood:
3	chr13:37546822..37548370-chr13:37551450..37554036,2	K562	blood:
4	chr13:37545958..37547521-chr13:37573277..37574925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120697	chromatin interactions
ENSG00000120699	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184346598	chr13:37547426-37547427	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35055616	chr13:37547433-37547434	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533457955	chr13:37547440-37547441	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs58282483	chr13:37547499-37547500	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs58470119	chr13:37547520-37547521	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530892306	chr13:37547560-37547561	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61122967	chr13:37547574-37547575	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539525748	chr13:37547595-37547596	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189490693	chr13:37547649-37547650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549319725	chr13:37547650-37547651	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567519021	chr13:37547824-37547825	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181809404	chr13:37547831-37547832	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553120763	chr13:37547832-37547833	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80052516	chr13:37547836-37547837	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146114348	chr13:37547863-37547864	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566517657	chr13:37547909-37547910	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556718777	chr13:37547931-37547932	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186171565	chr13:37547975-37547976	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189172994	chr13:37548000-37548001	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555645608	chr13:37548013-37548014	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs573955391	chr13:37548051-37548052	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541305343	chr13:37548063-37548064	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs529422466	chr13:37548093-37548094	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181670927	chr13:37548122-37548123	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs114370831	chr13:37548186-37548187	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148805716	chr13:37548189-37548190	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563743904	chr13:37548194-37548195	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs566094364	chr13:37548207-37548208	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs530929953	chr13:37548229-37548230	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs549356560	chr13:37548244-37548245	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142438103	chr13:37548262-37548263	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528382130	chr13:37548275-37548276	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546503533	chr13:37548278-37548279	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186722417	chr13:37548280-37548281	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs150829999	chr13:37548292-37548293	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs538228570	chr13:37548311-37548312	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs191166180	chr13:37548337-37548338	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs150391982	chr13:37548338-37548339	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113440870	chr13:37548340-37548341	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535855743	chr13:37548369-37548370	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs9576147	chr13:37548396-37548397	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12872025	chr13:37548452-37548453	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551435290	chr13:37548458-37548459	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34388622	chr13:37548462-37548463	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369784038	chr13:37548465-37548466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs535305943	chr13:37548466-37548467	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs553326031	chr13:37548527-37548528	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376876612	chr13:37548570-37548571	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538175799	chr13:37548571-37548572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs545225018	chr13:37548634-37548635	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
3	chr13:37522600-37548800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:37523200-37558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
6	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:37525000-37560800	Weak transcription	Fetal Heart	heart
8	chr13:37526600-37556200	Weak transcription	Brain Angular Gyrus	brain
9	chr13:37526800-37559400	Weak transcription	Hela-S3	cervix
10	chr13:37529400-37558200	Weak transcription	Gastric	stomach
11	chr13:37529600-37555600	Weak transcription	Stomach Mucosa	stomach
12	chr13:37531800-37570000	Strong transcription	Dnd41	blood
13	chr13:37535200-37553600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:37535400-37549600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:37539000-37558400	Weak transcription	Colonic Mucosa	Colon
16	chr13:37539000-37561000	Weak transcription	Aorta	Aorta
17	chr13:37539200-37558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:37539400-37561000	Weak transcription	Right Ventricle	heart
19	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:37539600-37549000	Weak transcription	Ovary	ovary
21	chr13:37539600-37558200	Weak transcription	Brain Germinal Matrix	brain
22	chr13:37539600-37562400	Weak transcription	Fetal Brain Male	brain
23	chr13:37539800-37557600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:37540200-37548000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:37540200-37549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:37540200-37549000	Weak transcription	Pancreas	Pancrea
27	chr13:37540200-37549200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:37540200-37553800	Weak transcription	HSMMtube	muscle
29	chr13:37540200-37558800	Weak transcription	Fetal Kidney	kidney
30	chr13:37540200-37561400	Weak transcription	Esophagus	oesophagus
31	chr13:37540200-37562200	Weak transcription	K562	blood
32	chr13:37540400-37548000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:37540400-37558400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:37540800-37556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr13:37541000-37549400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:37541000-37549600	Weak transcription	Brain Anterior Caudate	brain
37	chr13:37541000-37554200	Weak transcription	NHEK	skin
38	chr13:37541000-37558600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr13:37541200-37549000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:37541400-37549200	Strong transcription	NHDF-Ad	bronchial
41	chr13:37542000-37553000	Weak transcription	HepG2	liver
42	chr13:37542400-37556400	Weak transcription	Colon Smooth Muscle	Colon
43	chr13:37542600-37549800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr13:37543200-37548800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr13:37543200-37549400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr13:37543200-37558400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr13:37543400-37548000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr13:37543400-37549400	Weak transcription	HMEC	breast
49	chr13:37543400-37549600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr13:37543400-37553800	Weak transcription	NHLF	lung

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