Variant report

Variant	nsv900008
Chromosome Location	chr13:39962791-40020267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:40006578..40007558-chr8:43095226..43096057,2	MCF-7	breast:
2	chr13:39989312..39990379-chr13:40174545..40175487,4	MCF-7	breast:
3	chr13:39943129..39945538-chr13:39980519..39982065,2	MCF-7	breast:
4	chr13:40005578..40007079-chr8:43095031..43096734,3	MCF-7	breast:
5	chr13:40005558..40007078-chr2:162165245..162166765,2	K562	blood:
6	chr13:39989275..39990267-chr13:40185958..40186838,5	MCF-7	breast:
7	chr13:40006578..40007559-chr8:43092929..43093431,2	MCF-7	breast:
8	chr1:215177498..215178498-chr13:40006578..40007578,2	MCF-7	breast:
9	chr13:40005558..40007078-chrX:124181522..124183042,2	MCF-7	breast:
10	chr13:40006558..40007078-chr8:43096233..43096753,2	MCF-7	breast:
11	chr13:40007058..40008578-chr9:14244599..14246120,2	MCF-7	breast:
12	chr13:39989343..39990259-chr13:40190123..40190660,2	MCF-7	breast:
13	chr13:40006578..40007558-chrX:25127562..25128064,2	MCF-7	breast:
14	chr13:40006578..40007558-chr8:43094711..43095212,2	MCF-7	breast:
15	chr13:40005578..40008559-chr8:43094898..43096733,3	K562	blood:
16	chr13:39989316..39990102-chr13:40176690..40177356,3	MCF-7	breast:
17	chr13:39989718..39990375-chr15:56538148..56538851,2	MCF-7	breast:
18	chr13:40006558..40007078-chr8:43096234..43096754,2	MCF-7	breast:
19	chr13:40005558..40007078-chr8:43091430..43094429,2	K562	blood:
20	chr13:40016286..40017209-chr6:84924987..84925612,2	MCF-7	breast:
21	chr13:40006578..40007078-chr8:43096078..43096981,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183722	chromatin interactions

Extended variants
information (count: 2226 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:2226 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10492739	chr13:39962791-39962792	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530359767	chr13:39962804-39962805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549959460	chr13:39962805-39962806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144788357	chr13:39962815-39962816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112936600	chr13:39962837-39962838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555108796	chr13:39962902-39962903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565654355	chr13:39962966-39962967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75904825	chr13:39962969-39962970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1323933	chr13:39962976-39962977	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182921544	chr13:39962981-39962982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543613844	chr13:39963032-39963033	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188431145	chr13:39963038-39963039	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557130199	chr13:39963062-39963063	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574294141	chr13:39963085-39963086	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192898426	chr13:39963086-39963087	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372178066	chr13:39963106-39963107	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538766295	chr13:39963139-39963140	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9566419	chr13:39963202-39963203	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144284335	chr13:39963209-39963210	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545390121	chr13:39963213-39963214	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1323934	chr13:39963272-39963273	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10467465	chr13:39963291-39963292	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs146588456	chr13:39963309-39963310	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17803537	chr13:39963357-39963358	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143615185	chr13:39963420-39963421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs569327908	chr13:39963433-39963434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs565808201	chr13:39963452-39963453	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs183690111	chr13:39963472-39963473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs557285134	chr13:39963544-39963545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs117038031	chr13:39963593-39963594	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs538318772	chr13:39963595-39963596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs536740662	chr13:39963634-39963635	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557168691	chr13:39963730-39963731	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574157565	chr13:39963739-39963740	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542828383	chr13:39963780-39963781	Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553647477	chr13:39963824-39963825	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151213417	chr13:39963827-39963828	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74044045	chr13:39963973-39963974	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565274614	chr13:39964043-39964044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112436554	chr13:39964078-39964079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370036876	chr13:39964085-39964086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188610163	chr13:39964108-39964109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558213809	chr13:39964125-39964126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554480205	chr13:39964148-39964149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571848628	chr13:39964152-39964153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540823882	chr13:39964162-39964163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140394166	chr13:39964163-39964164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150388053	chr13:39964171-39964172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529107565	chr13:39964178-39964179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200600438	chr13:39964183-39964184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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 cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39958800-39963800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:39959400-39965800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:39959600-39968800	Weak transcription	Adipose Nuclei	Adipose
4	chr13:39959800-39963000	Weak transcription	Right Atrium	heart
5	chr13:39960000-39979200	Weak transcription	NHDF-Ad	bronchial
6	chr13:39960600-39968800	Weak transcription	Brain Anterior Caudate	brain
7	chr13:39960600-39969000	Weak transcription	Brain Germinal Matrix	brain
8	chr13:39960800-39968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:39960800-39969000	Weak transcription	Osteobl	bone
10	chr13:39961200-39963000	Weak transcription	Right Ventricle	heart
11	chr13:39962000-39962800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:39962000-39963000	Weak transcription	Left Ventricle	heart
13	chr13:39962000-39963400	Weak transcription	Ovary	ovary
14	chr13:39962200-39963200	Weak transcription	Aorta	Aorta
15	chr13:39962200-39968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:39962600-39963200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:39962800-39963800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:39963000-39963200	Enhancers	Right Ventricle	heart
19	chr13:39963000-39963600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr13:39963000-39963800	Enhancers	Left Ventricle	heart
21	chr13:39963000-39963800	Enhancers	Right Atrium	heart
22	chr13:39963200-39963400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
23	chr13:39963200-39963400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr13:39963200-39963600	Weak transcription	Right Ventricle	heart
25	chr13:39963200-39963800	Enhancers	Aorta	Aorta
26	chr13:39963200-39967400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:39963400-39963600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr13:39963400-39963800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr13:39963400-39964000	Enhancers	Ovary	ovary
30	chr13:39963600-39963800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
31	chr13:39963600-39963800	Enhancers	Right Ventricle	heart
32	chr13:39963600-39964000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:39963800-39967400	Weak transcription	Right Ventricle	heart
34	chr13:39963800-39967600	Weak transcription	Left Ventricle	heart
35	chr13:39963800-39968600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:39963800-39968800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:39963800-39968800	Weak transcription	Aorta	Aorta
38	chr13:39963800-39969000	Weak transcription	Right Atrium	heart
39	chr13:39964000-39964400	Weak transcription	Ovary	ovary
40	chr13:39964400-39964600	Enhancers	Ovary	ovary
41	chr13:39964600-39967400	Weak transcription	Ovary	ovary
42	chr13:39965800-39966000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr13:39966000-39966600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr13:39966600-39970000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr13:39967400-39967600	Enhancers	Fetal Kidney	kidney
46	chr13:39967400-39967600	Enhancers	Right Ventricle	heart
47	chr13:39967400-39967800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:39967400-39969200	Enhancers	Ovary	ovary
49	chr13:39967600-39968200	Weak transcription	Right Ventricle	heart
50	chr13:39967600-39969200	Weak transcription	Fetal Kidney	kidney

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