Variant report

Variant	nsv518456
Chromosome Location	chr8:8939125-8948469
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
2	chr8:8946560..8948747-chr8:8951102..8952679,2	K562	blood:
3	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
4	chr8:8934965..8937761-chr8:8946475..8949446,3	MCF-7	breast:
5	chr8:8938481..8944528-chr8:8944977..8948023,6	K562	blood:
6	chr8:8944921..8946631-chr8:9007353..9010228,2	K562	blood:
7	chr8:8932762..8934557-chr8:8938134..8939929,2	MCF-7	breast:
8	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
9	chr8:8947247..8949756-chr8:8951102..8953097,2	K562	blood:
10	chr8:8939297..8940892-chr8:9008509..9010684,2	K562	blood:
11	chr8:8935137..8938110-chr8:8938203..8940506,3	MCF-7	breast:
12	chr8:8940339..8943517-chr8:8945394..8948059,3	K562	blood:
13	chr8:8943472..8945578-chr8:8953667..8955933,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-10A14.4.1-3	chr8:8947524-8947792	XLOC_006702

No data

Variant related genes	Relation type
ENSG00000253426	chromatin interactions
ENSG00000173281	chromatin interactions
PHKA1	miRNA target sites

Extended variants
information (count: 501 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7009724	chr8:8939125-8939126	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191181115	chr8:8939148-8939149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372314532	chr8:8939164-8939165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6986226	chr8:8939178-8939179	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538050907	chr8:8939197-8939198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139609445	chr8:8939200-8939201	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs10701231	chr8:8939206-8939207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs397719942	chr8:8939209-8939210	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113931547	chr8:8939210-8939211	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530879330	chr8:8939211-8939212	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10701232	chr8:8939213-8939214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375119068	chr8:8939214-8939215	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139377433	chr8:8939223-8939224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56014862	chr8:8939240-8939241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs184372872	chr8:8939260-8939261	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201173334	chr8:8939300-8939301	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs543814390	chr8:8939302-8939303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554778417	chr8:8939320-8939321	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs76463912	chr8:8939325-8939326	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534114033	chr8:8939331-8939332	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs188018073	chr8:8939366-8939367	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573233914	chr8:8939367-8939368	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2979245	chr8:8939373-8939374	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559018745	chr8:8939378-8939379	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs575602620	chr8:8939390-8939391	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540310067	chr8:8939406-8939407	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs574932486	chr8:8939409-8939410	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs193090061	chr8:8939418-8939419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs185792401	chr8:8939427-8939428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs137965234	chr8:8939435-8939436	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs116219364	chr8:8939437-8939438	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs532144874	chr8:8939469-8939470	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551842852	chr8:8939503-8939504	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs189002721	chr8:8939512-8939513	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs6985627	chr8:8939540-8939541	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548289439	chr8:8939546-8939547	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs568288180	chr8:8939547-8939548	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs192215721	chr8:8939609-8939610	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542480973	chr8:8939679-8939680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10503389	chr8:8939723-8939724	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570614517	chr8:8939743-8939744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs373329167	chr8:8939767-8939768	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149464205	chr8:8939777-8939778	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs376179523	chr8:8939782-8939783	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs6987277	chr8:8939831-8939832	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs537977786	chr8:8939851-8939852	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554641916	chr8:8939854-8939855	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574733158	chr8:8939890-8939891	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs540388399	chr8:8939895-8939896	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs554688639	chr8:8940016-8940017	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
low-grade B-cell lymphoma tumor	18367492	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
Bladder cancer	21909424	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

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
2	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
3	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
4	chr8:8931800-8940800	Enhancers	Fetal Intestine Small	intestine
5	chr8:8932600-8939600	Weak transcription	Ovary	ovary
6	chr8:8932600-8951800	Weak transcription	Pancreas	Pancrea
7	chr8:8932800-8939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:8932800-8945600	Weak transcription	Thymus	Thymus
9	chr8:8933000-8939400	Enhancers	K562	blood
10	chr8:8933200-8939400	Weak transcription	Fetal Lung	lung
11	chr8:8933200-8939600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:8933600-8939200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:8934200-8940000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:8935000-8939600	Weak transcription	NHLF	lung
15	chr8:8935200-8939400	Weak transcription	HSMM	muscle
16	chr8:8935200-8939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:8935400-8939400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:8935400-8939400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:8935400-8939400	Weak transcription	NH-A	brain
20	chr8:8935400-8939600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:8935400-8939600	Weak transcription	HSMMtube	muscle
22	chr8:8935400-8959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:8935600-8939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:8935600-8939600	Weak transcription	Psoas Muscle	Psoas
25	chr8:8935600-8939600	Weak transcription	Right Atrium	heart
26	chr8:8935800-8940000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:8936000-8940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:8936200-8940000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr8:8936200-8940400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:8936400-8940400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:8936600-8939200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:8936600-8939600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:8936800-8939400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:8937000-8939200	Weak transcription	Adipose Nuclei	Adipose
35	chr8:8937000-8939600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:8937400-8940400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr8:8937400-8940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:8937400-8943400	Enhancers	Hela-S3	cervix
39	chr8:8937600-8939400	Enhancers	HUVEC	blood vessel
40	chr8:8937800-8940400	Enhancers	Small Intestine	intestine
41	chr8:8937800-8940800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:8937800-8940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr8:8938000-8939400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:8938000-8939400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr8:8938000-8939400	Weak transcription	NHDF-Ad	bronchial
46	chr8:8938000-8939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:8938000-8940400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr8:8938000-8940400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr8:8938000-8945200	Weak transcription	Placenta	Placenta
50	chr8:8938000-8951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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