Variant report

Variant	esv3435886
Chromosome Location	chr13:48855451-48857849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48855575..48857168-chr13:48860867..48862627,2	K562	blood:
2	chr12:34017264..34017766-chr13:48856661..48857204,2	MCF-7	breast:
3	chr13:48857773..48861171-chr13:48869785..48872052,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563522980	chr13:48855475-48855476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547257826	chr13:48855495-48855496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150053852	chr13:48855504-48855505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148813360	chr13:48855571-48855572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529489965	chr13:48855628-48855629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551238758	chr13:48855650-48855651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145467362	chr13:48855697-48855698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148390985	chr13:48855701-48855702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551359401	chr13:48855730-48855731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142589749	chr13:48855751-48855752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182656294	chr13:48855752-48855753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9568027	chr13:48855768-48855769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs187692313	chr13:48855802-48855803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538003426	chr13:48855819-48855820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75290447	chr13:48855855-48855856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544952392	chr13:48855870-48855871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564851646	chr13:48855879-48855880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575307865	chr13:48855960-48855961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373706248	chr13:48855966-48855967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150955200	chr13:48855970-48855971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553977911	chr13:48855993-48855994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371839922	chr13:48856105-48856106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540318913	chr13:48856154-48856155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562399340	chr13:48856184-48856185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529572214	chr13:48856197-48856198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142204211	chr13:48856199-48856200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558415587	chr13:48856257-48856258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193110727	chr13:48856258-48856259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533599757	chr13:48856260-48856261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551477284	chr13:48856297-48856298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145231087	chr13:48856299-48856300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112402962	chr13:48856333-48856334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs58919886	chr13:48856334-48856335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386770804	chr13:48856335-48856336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200751082	chr13:48856336-48856337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185661198	chr13:48856460-48856461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548711676	chr13:48856534-48856535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567505364	chr13:48856575-48856576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187535183	chr13:48856630-48856631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192011379	chr13:48856665-48856666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577400895	chr13:48856712-48856713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374984467	chr13:48856714-48856715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538475782	chr13:48856758-48856759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77147822	chr13:48856763-48856764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573300503	chr13:48856771-48856772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114741482	chr13:48856776-48856777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111424994	chr13:48856813-48856814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117407380	chr13:48856990-48856991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561944376	chr13:48856996-48856997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184107003	chr13:48857018-48857019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
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
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	17237825	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
3	chr13:48844400-48877200	Weak transcription	Aorta	Aorta
4	chr13:48853400-48857000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr13:48853400-48860400	Weak transcription	Brain Substantia Nigra	brain
6	chr13:48855800-48856000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:48857600-48858000	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links