Variant report

Variant	nsv890352
Chromosome Location	chr8:10461484-10486652
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
2	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
3	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
4	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
5	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
6	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
7	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
8	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
9	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
10	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
11	chr17:57915711..57917705-chr8:10466490..10468325,2	MCF-7	breast:
12	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:
13	chr8:10483740..10486266-chr8:10497688..10499815,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	RP1L1	hsa-miR-335-5p	chr8:10464033-10464056

Extended variants
information (count: 2042 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:2042 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11786322	chr8:10461484-10461485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11990494	chr8:10461530-10461531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538111069	chr8:10461552-10461553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184615710	chr8:10461557-10461558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199943659	chr8:10461571-10461572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142840833	chr8:10461578-10461579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540857504	chr8:10461587-10461588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187353691	chr8:10461629-10461630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576964139	chr8:10461653-10461654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545901803	chr8:10461655-10461656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562494996	chr8:10461674-10461675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531617649	chr8:10461675-10461676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117095106	chr8:10461768-10461769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562048178	chr8:10461780-10461781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533974586	chr8:10461781-10461782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376007849	chr8:10461786-10461787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145072935	chr8:10461795-10461796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192928263	chr8:10461864-10461865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56280639	chr8:10461880-10461881	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549906693	chr8:10461886-10461887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567160233	chr8:10461895-10461896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184930575	chr8:10461900-10461901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554949463	chr8:10461919-10461920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547938074	chr8:10461933-10461934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75608265	chr8:10461947-10461948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534121618	chr8:10461965-10461966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561923186	chr8:10461975-10461976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9987400	chr8:10462010-10462011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577025147	chr8:10462012-10462013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148345097	chr8:10462045-10462046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556252703	chr8:10462059-10462060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576340222	chr8:10462064-10462065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537488512	chr8:10462184-10462185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9987390	chr8:10462188-10462189	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555838149	chr8:10462193-10462194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570745301	chr8:10462207-10462208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527627003	chr8:10462210-10462211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111943932	chr8:10462238-10462239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539064328	chr8:10462329-10462330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34221969	chr8:10462346-10462347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189823758	chr8:10462372-10462373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549869435	chr8:10462450-10462451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78324996	chr8:10462486-10462487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80157462	chr8:10462487-10462488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150880865	chr8:10462509-10462510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571037526	chr8:10462525-10462526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528861898	chr8:10462533-10462534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139386642	chr8:10462566-10462567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565548705	chr8:10462574-10462575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534458736	chr8:10462593-10462594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
2	chr8:10460400-10464400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr8:10461200-10461800	Weak transcription	Adipose Nuclei	Adipose
4	chr8:10461800-10462000	Enhancers	Adipose Nuclei	Adipose
5	chr8:10463400-10464600	Enhancers	Liver	Liver
6	chr8:10464400-10464800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:10464800-10465000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:10465000-10466200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10466200-10467200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10466400-10468000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:10466600-10466800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:10467200-10467400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr8:10467200-10468200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:10468200-10470800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:10469400-10470200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr8:10469400-10470400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:10477000-10482800	Weak transcription	Spleen	Spleen
18	chr8:10480200-10480400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:10480400-10480600	Enhancers	Pancreas	Pancrea
20	chr8:10480400-10481600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:10480600-10481000	Weak transcription	Pancreas	Pancrea
22	chr8:10481000-10481400	ZNF genes & repeats	Pancreas	Pancrea
23	chr8:10481200-10481400	Enhancers	Gastric	stomach
24	chr8:10481400-10482000	Active TSS	Gastric	stomach
25	chr8:10481400-10487800	Weak transcription	Pancreas	Pancrea
26	chr8:10481600-10482200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10481800-10482000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:10482200-10484000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:10482400-10482600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:10482400-10487600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:10482600-10484000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr8:10482600-10484200	Enhancers	HUVEC	blood vessel
33	chr8:10482600-10488800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:10482800-10483800	Enhancers	Spleen	Spleen
35	chr8:10482800-10484000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:10482800-10484000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr8:10482800-10484000	Enhancers	Lung	lung
38	chr8:10483000-10483800	Bivalent Enhancer	Right Ventricle	heart
39	chr8:10483000-10484200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:10483200-10483400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:10483200-10483800	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr8:10483200-10483800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:10483200-10483800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:10483200-10484000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:10483200-10484000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:10483200-10484000	Enhancers	Ovary	ovary
47	chr8:10483200-10484000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr8:10483200-10484200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:10483200-10484200	Bivalent Enhancer	Fetal Stomach	stomach
50	chr8:10483400-10483600	Enhancers	Left Ventricle	heart

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