Variant report

Variant	nsv976049
Chromosome Location	chr13:39526141-39537715
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	chr13:39521347..39523381-chr13:39525181..39526841,2	MCF-7	breast:
2	chr13:39531190..39533683-chr13:39627978..39630971,2	K562	blood:

Extended variants
information (count: 617 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:617 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386770176	chr13:39526151-39526152	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201621754	chr13:39526152-39526153	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs73169414	chr13:39526175-39526176	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576173896	chr13:39526186-39526187	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs61945525	chr13:39526195-39526196	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs145657437	chr13:39526197-39526198	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs541707630	chr13:39526208-39526209	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10220044	chr13:39526228-39526229	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191315027	chr13:39526249-39526250	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540995921	chr13:39526255-39526256	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140090300	chr13:39526270-39526271	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10220034	chr13:39526272-39526273	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183783014	chr13:39526274-39526275	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563280886	chr13:39526297-39526298	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529441007	chr13:39526311-39526312	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10220040	chr13:39526357-39526358	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76016631	chr13:39526371-39526372	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535006346	chr13:39526389-39526390	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188511351	chr13:39526390-39526391	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571288422	chr13:39526418-39526419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537089087	chr13:39526428-39526429	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181291167	chr13:39526454-39526455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184966297	chr13:39526478-39526479	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562766251	chr13:39526479-39526480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs190157474	chr13:39526499-39526500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10219817	chr13:39526500-39526501	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113019098	chr13:39526516-39526517	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs137990830	chr13:39526526-39526527	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558119056	chr13:39526539-39526540	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs181859639	chr13:39526560-39526561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4494418	chr13:39526592-39526593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs140874803	chr13:39526602-39526603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528992952	chr13:39526632-39526633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543178460	chr13:39526639-39526640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186133630	chr13:39526652-39526653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145827988	chr13:39526675-39526676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75099972	chr13:39526709-39526710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10220051	chr13:39526717-39526718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530889794	chr13:39526765-39526766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376301429	chr13:39526774-39526775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550709853	chr13:39526798-39526799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527545685	chr13:39526814-39526815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs41369550	chr13:39526815-39526816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs560550070	chr13:39526816-39526817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79371768	chr13:39526828-39526829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61399823	chr13:39526918-39526919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190987807	chr13:39526981-39526982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376394166	chr13:39527003-39527004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141322492	chr13:39527011-39527012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558082375	chr13:39527035-39527036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	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 clear cell carcinoma	21343371	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39520200-39541600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:39521800-39526200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:39525400-39526400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr13:39525400-39526800	Weak transcription	Pancreas	Pancrea
5	chr13:39525800-39526400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:39525800-39526400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr13:39525800-39526400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr13:39525800-39526400	Flanking Active TSS	HUVEC	blood vessel
9	chr13:39525800-39526600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:39526000-39526200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:39526000-39526200	Active TSS	Adipose Nuclei	Adipose
12	chr13:39526000-39526200	Active TSS	Duodenum Mucosa	Duodenum
13	chr13:39526000-39526400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:39526000-39526400	Active TSS	Right Atrium	heart
15	chr13:39526200-39526400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:39526200-39526400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr13:39526200-39526600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:39526200-39526600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr13:39526200-39526600	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr13:39526200-39526600	Enhancers	Fetal Intestine Small	intestine
21	chr13:39526200-39527000	Enhancers	HMEC	breast
22	chr13:39526200-39529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:39526400-39526600	Enhancers	HUVEC	blood vessel
24	chr13:39526400-39526800	Enhancers	Brain Cingulate Gyrus	brain
25	chr13:39526600-39528000	Enhancers	NHEK	skin
26	chr13:39526600-39528200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:39526800-39527000	Enhancers	Pancreas	Pancrea
28	chr13:39526800-39527200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:39527000-39527800	Weak transcription	Pancreas	Pancrea
30	chr13:39527000-39528200	Weak transcription	HMEC	breast
31	chr13:39527800-39528000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr13:39527800-39528000	Enhancers	Pancreas	Pancrea
33	chr13:39528000-39532000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:39528200-39529200	Enhancers	HMEC	breast
35	chr13:39528600-39528800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:39532000-39532200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links