Variant report

Variant	nsv539467
Chromosome Location	chr8:10455842-10495689
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10483740..10486266-chr8:10497688..10499815,2	MCF-7	breast:
2	chr17:57915711..57917705-chr8:10466490..10468325,2	MCF-7	breast:
3	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
4	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
5	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
6	chr8:10483888..10486004-chr8:10489138..10491581,2	K562	blood:
7	chr8:10494258..10496220-chr8:10499255..10501363,2	K562	blood:
8	chr8:10481194..10482903-chr8:10484662..10486783,2	K562	blood:
9	chr8:10461544..10463468-chr8:10674781..10677553,2	K562	blood:
10	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
11	chr8:10466383..10469729-chr8:10471205..10473307,3	K562	blood:
12	chr8:10471165..10472668-chr8:10474766..10476740,2	K562	blood:
13	chr8:10464134..10466751-chr8:10479070..10481412,2	K562	blood:
14	chr8:10451891..10453978-chr8:10460350..10462448,2	K562	blood:
15	chr8:10466383..10469729-chr8:10471205..10473307,3	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: 2942 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:2942 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573493798	chr8:10455854-10455855	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564810894	chr8:10455862-10455863	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116931496	chr8:10455910-10455911	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs112753321	chr8:10455915-10455916	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs75677449	chr8:10455917-10455918	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577630525	chr8:10455937-10455938	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535630006	chr8:10455956-10455957	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185302057	chr8:10455973-10455974	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs572195713	chr8:10456006-10456007	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs541125778	chr8:10456011-10456012	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs558235206	chr8:10456018-10456019	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115911502	chr8:10456064-10456065	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568721333	chr8:10456071-10456072	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189832873	chr8:10456079-10456080	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563554607	chr8:10456106-10456107	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529251726	chr8:10456107-10456108	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs9644729	chr8:10456111-10456112	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559551892	chr8:10456121-10456122	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528296080	chr8:10456128-10456129	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149057617	chr8:10456129-10456130	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143099405	chr8:10456138-10456139	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs530407434	chr8:10456171-10456172	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181572995	chr8:10456172-10456173	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs540588217	chr8:10456174-10456175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529343422	chr8:10456257-10456258	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535783122	chr8:10456302-10456303	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs138810639	chr8:10456325-10456326	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs79820479	chr8:10456364-10456365	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs535241686	chr8:10456398-10456399	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35088717	chr8:10456419-10456420	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs141360312	chr8:10456469-10456470	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs557935505	chr8:10456472-10456473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs578070380	chr8:10456484-10456485	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs543451799	chr8:10456496-10456497	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs557432413	chr8:10456521-10456522	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs574093514	chr8:10456531-10456532	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs549591259	chr8:10456554-10456555	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs542898768	chr8:10456566-10456567	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs559708992	chr8:10456572-10456573	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs528241874	chr8:10456581-10456582	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs374201272	chr8:10456584-10456585	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs577792023	chr8:10456609-10456610	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs146988265	chr8:10456633-10456634	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs371246710	chr8:10456654-10456655	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs377498733	chr8:10456663-10456664	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs138171860	chr8:10456665-10456666	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs185883780	chr8:10456704-10456705	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs370595264	chr8:10456710-10456711	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs566879789	chr8:10456725-10456726	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs529644568	chr8:10456726-10456727	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10448200-10456200	Weak transcription	Liver	Liver
2	chr8:10451800-10490000	Weak transcription	Right Atrium	heart
3	chr8:10453800-10457600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:10454400-10457400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr8:10455200-10456400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10455200-10456800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:10455200-10457000	Enhancers	Esophagus	oesophagus
8	chr8:10455200-10457200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:10455200-10457400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:10455200-10457400	Enhancers	Ovary	ovary
11	chr8:10455400-10456200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10455400-10456400	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:10455400-10457000	Enhancers	HMEC	breast
14	chr8:10455600-10456200	Enhancers	Colon Smooth Muscle	Colon
15	chr8:10455600-10456200	Weak transcription	Spleen	Spleen
16	chr8:10455600-10456200	Enhancers	HSMM	muscle
17	chr8:10455600-10456200	Enhancers	HSMMtube	muscle
18	chr8:10455600-10456400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:10455600-10456400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:10455600-10456400	Enhancers	Rectal Smooth Muscle	rectum
21	chr8:10455600-10456400	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr8:10455600-10456600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:10455600-10456600	Enhancers	HUVEC	blood vessel
24	chr8:10455600-10456800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:10455600-10456800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr8:10455800-10456000	Flanking Active TSS	NHEK	skin
27	chr8:10455800-10456200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:10455800-10456200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:10455800-10456200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:10455800-10456400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:10455800-10456400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:10455800-10456400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:10455800-10456400	Flanking Active TSS	Hela-S3	cervix
34	chr8:10455800-10456600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:10455800-10456600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:10455800-10456600	Enhancers	A549	lung
37	chr8:10455800-10456600	Enhancers	NH-A	brain
38	chr8:10455800-10456800	Bivalent Enhancer	HepG2	liver
39	chr8:10456000-10456200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:10456000-10456200	Enhancers	NHEK	skin
41	chr8:10456000-10456400	Enhancers	Fetal Muscle Leg	muscle
42	chr8:10456000-10456400	Bivalent Enhancer	Fetal Stomach	stomach
43	chr8:10456000-10456600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:10456200-10456400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:10456200-10456400	Enhancers	Spleen	Spleen
46	chr8:10456200-10456400	Flanking Active TSS	NHEK	skin
47	chr8:10456200-10456800	Enhancers	Liver	Liver
48	chr8:10456400-10456800	Enhancers	Hela-S3	cervix
49	chr8:10456400-10456800	Enhancers	NHEK	skin
50	chr8:10456400-10457000	Enhancers	Stomach Smooth Muscle	stomach

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