Variant report

Variant	nsv1022682
Chromosome Location	chr8:10453091-10501380
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10483740..10486266-chr8:10497688..10499815,2	MCF-7	breast:
2	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
3	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
4	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
5	chr17:57915711..57917705-chr8:10466490..10468325,2	MCF-7	breast:
6	chr8:10494258..10496220-chr8:10499255..10501363,2	K562	blood:
7	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
8	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
9	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
10	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
11	chr8:10483740..10486266-chr8:10497688..10499815,2	MCF-7	breast:
12	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
13	chr8:10498586..10501129-chr8:10504266..10507624,3	K562	blood:
14	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
15	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:
16	chr8:10450511..10453354-chr8:10693058..10695560,2	K562	blood:
17	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
18	chr8:10494258..10496220-chr8:10499255..10501363,2	K562	blood:
19	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
20	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:

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: 3415 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:3415 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9650655	chr8:10453091-10453092	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567373188	chr8:10453101-10453102	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529621668	chr8:10453103-10453104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs34702714	chr8:10453109-10453110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs190309678	chr8:10453116-10453117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs562609220	chr8:10453154-10453155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566010388	chr8:10453196-10453197	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs535027961	chr8:10453206-10453207	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs530971372	chr8:10453221-10453222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs558041937	chr8:10453237-10453238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs4840494	chr8:10453249-10453250	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570972732	chr8:10453263-10453264	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs182126871	chr8:10453280-10453281	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs186608129	chr8:10453332-10453333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs574113123	chr8:10453352-10453353	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs189937567	chr8:10453357-10453358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs369868526	chr8:10453359-10453360	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs143802148	chr8:10453371-10453372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs114733458	chr8:10453372-10453373	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs545281951	chr8:10453378-10453379	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs372975178	chr8:10453392-10453393	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs565187932	chr8:10453394-10453395	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs4841390	chr8:10453419-10453420	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34703838	chr8:10453439-10453440	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs61213977	chr8:10453441-10453442	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77552535	chr8:10453442-10453443	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs75265773	chr8:10453459-10453460	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs566092477	chr8:10453478-10453479	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs4840495	chr8:10453526-10453527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs4840496	chr8:10453532-10453533	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs371676938	chr8:10453548-10453549	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs537233483	chr8:10453549-10453550	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs557462175	chr8:10453552-10453553	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs77891522	chr8:10453578-10453579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs181094376	chr8:10453595-10453596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs536785076	chr8:10453596-10453597	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs553512120	chr8:10453606-10453607	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs573226601	chr8:10453610-10453611	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs185352879	chr8:10453612-10453613	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs144240165	chr8:10453615-10453616	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs575526174	chr8:10453616-10453617	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs544054782	chr8:10453639-10453640	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs561182626	chr8:10453642-10453643	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs117143315	chr8:10453644-10453645	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs113385952	chr8:10453649-10453650	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs539896244	chr8:10453677-10453678	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs559837468	chr8:10453685-10453686	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs375774308	chr8:10453695-10453696	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs4841391	chr8:10453697-10453698	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552188388	chr8:10453700-10453701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:554 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10448200-10456200	Weak transcription	Liver	Liver
2	chr8:10449000-10454600	Weak transcription	Spleen	Spleen
3	chr8:10449600-10453800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:10451800-10455200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:10451800-10455200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:10451800-10455400	Weak transcription	HMEC	breast
7	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
8	chr8:10452000-10455800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:10452000-10455800	Weak transcription	NH-A	brain
10	chr8:10452400-10453200	Enhancers	Hela-S3	cervix
11	chr8:10453000-10453200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:10453000-10453200	Enhancers	Esophagus	oesophagus
13	chr8:10453000-10453400	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr8:10453000-10453600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:10453000-10453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:10453000-10454400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:10453200-10453400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:10453200-10453400	Enhancers	Brain Hippocampus Middle	brain
19	chr8:10453200-10453600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:10453200-10455400	Weak transcription	Hela-S3	cervix
21	chr8:10453400-10453600	Enhancers	HSMM	muscle
22	chr8:10453600-10453800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr8:10453600-10455600	Weak transcription	HSMM	muscle
24	chr8:10453600-10455800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:10453800-10457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:10454400-10455200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10454400-10457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:10454600-10455600	Enhancers	Spleen	Spleen
29	chr8:10455200-10455600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr8:10455200-10455800	Enhancers	NHEK	skin
31	chr8:10455200-10456400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:10455200-10456800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:10455200-10457000	Enhancers	Esophagus	oesophagus
34	chr8:10455200-10457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:10455200-10457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:10455200-10457400	Enhancers	Ovary	ovary
37	chr8:10455400-10455800	Enhancers	Hela-S3	cervix
38	chr8:10455400-10456200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:10455400-10456400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr8:10455400-10457000	Enhancers	HMEC	breast
41	chr8:10455600-10456200	Enhancers	Colon Smooth Muscle	Colon
42	chr8:10455600-10456200	Weak transcription	Spleen	Spleen
43	chr8:10455600-10456200	Enhancers	HSMM	muscle
44	chr8:10455600-10456200	Enhancers	HSMMtube	muscle
45	chr8:10455600-10456400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:10455600-10456400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:10455600-10456400	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:10455600-10456400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:10455600-10456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:10455600-10456600	Enhancers	HUVEC	blood vessel

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