Variant report

Variant	nsv974089
Chromosome Location	chr13:48588484-48594798
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	chr13:48582197..48584470-chr13:48587101..48588895,3	K562	blood:
2	chr13:48582197..48584034-chr13:48587167..48588895,2	K562	blood:

Extended variants
information (count: 233 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75569656	chr13:48588499-48588500	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554653469	chr13:48588550-48588551	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9534912	chr13:48588564-48588565	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550201387	chr13:48588588-48588589	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571756879	chr13:48588628-48588629	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539212635	chr13:48588643-48588644	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554551003	chr13:48588700-48588701	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572756260	chr13:48588778-48588779	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536288797	chr13:48588820-48588821	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554620504	chr13:48588878-48588879	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572236647	chr13:48588934-48588935	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575965409	chr13:48589055-48589056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118096783	chr13:48589062-48589063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543010514	chr13:48589114-48589115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564955124	chr13:48589126-48589127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577005974	chr13:48589132-48589133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557034803	chr13:48589242-48589243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118099971	chr13:48589268-48589269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559255125	chr13:48589339-48589340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529951832	chr13:48589350-48589351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548049977	chr13:48589374-48589375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546014649	chr13:48589411-48589412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140402434	chr13:48589417-48589418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369250520	chr13:48589447-48589448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377567185	chr13:48589534-48589535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200057969	chr13:48589540-48589541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs66739590	chr13:48589541-48589542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57929748	chr13:48589543-48589544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531689550	chr13:48589548-48589549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9534913	chr13:48589597-48589598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs571709979	chr13:48589608-48589609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376012554	chr13:48589613-48589614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9534914	chr13:48589614-48589615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs9534915	chr13:48589623-48589624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs150369146	chr13:48589635-48589636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376325493	chr13:48589652-48589653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529580436	chr13:48589658-48589659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138075622	chr13:48589664-48589665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555257298	chr13:48589714-48589715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9562797	chr13:48589752-48589753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs537043362	chr13:48589789-48589790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558416665	chr13:48589798-48589799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576854109	chr13:48589807-48589808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540688684	chr13:48589851-48589852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559140458	chr13:48589873-48589874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574243051	chr13:48589932-48589933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375604062	chr13:48589964-48589965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563589933	chr13:48589978-48589979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368572278	chr13:48589991-48589992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181663619	chr13:48589997-48589998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr13:48576000-48590800	Weak transcription	Gastric	stomach
3	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
5	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
7	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
8	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
10	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
11	chr13:48576400-48589000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:48576600-48604800	Weak transcription	Dnd41	blood
16	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:48583400-48592800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:48583800-48604600	Weak transcription	Liver	Liver
19	chr13:48584000-48604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:48584200-48589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:48584200-48604800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr13:48584400-48591400	Weak transcription	Psoas Muscle	Psoas
25	chr13:48584400-48592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:48584400-48604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:48584800-48604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:48586000-48603800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:48587000-48589000	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr13:48587400-48604000	Weak transcription	Primary B cells from cord blood	blood
31	chr13:48588000-48603800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:48588400-48588600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:48588400-48588800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr13:48588400-48589200	Strong transcription	Fetal Intestine Large	intestine
35	chr13:48588600-48589000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:48588600-48605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:48588800-48605200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr13:48589000-48604800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr13:48589200-48605200	Weak transcription	Fetal Intestine Large	intestine
40	chr13:48592000-48592400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr13:48592400-48593200	Enhancers	Stomach Mucosa	stomach
42	chr13:48592400-48604800	Weak transcription	Fetal Intestine Small	intestine
43	chr13:48593000-48593200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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