Variant report

Variant	nsv977227
Chromosome Location	chr13:39584329-39585449
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:39581567..39584670-chr13:39588176..39591409,3	K562	blood:
2	chr13:39581808..39584670-chr13:39588176..39590668,3	K562	blood:
3	chr13:39585404..39588263-chr13:39595787..39598231,3	K562	blood:
4	chr13:39583306..39585732-chr13:39594165..39596602,2	K562	blood:
5	chr13:39584395..39587085-chr13:39611673..39614003,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	C13orf23	hsa-miR-320a	chr13:39584312-39584331

Variant related genes	Relation type
ENSG00000120685	chromatin interactions
ENSG00000188811	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1043348	chr13:39584373-39584374	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534649895	chr13:39584404-39584405	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs141966691	chr13:39584497-39584498	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs541607535	chr13:39584561-39584562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs145732544	chr13:39584595-39584596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138751679	chr13:39584642-39584643	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192814828	chr13:39584693-39584694	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17226781	chr13:39584728-39584729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs570383873	chr13:39584747-39584748	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs537525997	chr13:39584833-39584834	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542887419	chr13:39584851-39584852	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs17226809	chr13:39584916-39584917	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549406239	chr13:39584965-39584966	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs142743811	chr13:39584991-39584992	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs41286139	chr13:39585019-39585020	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs8181814	chr13:39585072-39585073	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547561041	chr13:39585098-39585099	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs546387716	chr13:39585116-39585117	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570590016	chr13:39585148-39585149	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539700392	chr13:39585152-39585153	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556013989	chr13:39585156-39585157	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs2274385	chr13:39585178-39585179	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs77113641	chr13:39585195-39585196	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185332590	chr13:39585233-39585234	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572095661	chr13:39585242-39585243	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540800823	chr13:39585253-39585254	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs374184199	chr13:39585270-39585271	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564677456	chr13:39585295-39585296	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140678329	chr13:39585307-39585308	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373561234	chr13:39585319-39585320	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs10161823	chr13:39585354-39585355	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544046104	chr13:39585370-39585371	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs371229907	chr13:39585375-39585376	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs147309551	chr13:39585376-39585377	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189107412	chr13:39585387-39585388	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370854229	chr13:39585402-39585403	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549396067	chr13:39585408-39585409	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559827838	chr13:39585409-39585410	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528570248	chr13:39585421-39585422	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs138890028	chr13:39585422-39585423	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	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:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39572200-39584600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr13:39573400-39584800	Weak transcription	K562	blood
3	chr13:39574600-39585000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:39577000-39584600	Weak transcription	Left Ventricle	heart
5	chr13:39579000-39585000	Weak transcription	Gastric	stomach
6	chr13:39580000-39584400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:39580000-39584400	Weak transcription	Dnd41	blood
8	chr13:39580200-39584400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:39580200-39584400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:39580200-39584600	Weak transcription	Fetal Muscle Leg	muscle
11	chr13:39580200-39584800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:39580200-39585000	Weak transcription	Fetal Stomach	stomach
13	chr13:39580200-39585000	Weak transcription	NH-A	brain
14	chr13:39580400-39584600	Weak transcription	Fetal Brain Female	brain
15	chr13:39580400-39585000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr13:39580400-39585000	Weak transcription	Lung	lung
17	chr13:39580600-39584400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:39580800-39584400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr13:39580800-39584400	Weak transcription	Fetal Lung	lung
20	chr13:39580800-39584800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:39580800-39584800	Weak transcription	Colon Smooth Muscle	Colon
22	chr13:39580800-39586200	Weak transcription	Colonic Mucosa	Colon
23	chr13:39581000-39584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr13:39581000-39584600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:39581000-39584600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:39581200-39584400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr13:39581200-39584400	Weak transcription	Fetal Kidney	kidney
28	chr13:39581200-39584600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr13:39581200-39585000	Weak transcription	Aorta	Aorta
30	chr13:39581200-39585000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:39581200-39585000	Weak transcription	Thymus	Thymus
32	chr13:39581400-39584600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr13:39581400-39584600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:39581400-39584600	Weak transcription	A549	lung
35	chr13:39581400-39584600	Weak transcription	HMEC	breast
36	chr13:39581400-39584600	Weak transcription	NHEK	skin
37	chr13:39581400-39585400	Weak transcription	Fetal Intestine Small	intestine
38	chr13:39581600-39584600	Weak transcription	HepG2	liver
39	chr13:39581600-39585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:39581600-39590800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr13:39581600-39592000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:39581600-39592400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:39581800-39584600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr13:39581800-39585000	Weak transcription	Esophagus	oesophagus
45	chr13:39581800-39585000	Weak transcription	Spleen	Spleen
46	chr13:39581800-39585400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:39581800-39589400	Strong transcription	Brain Germinal Matrix	brain
48	chr13:39581800-39592200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:39581800-39593200	Strong transcription	HSMM	muscle
50	chr13:39581800-39597000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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