Variant report

Variant	nsv609984
Chromosome Location	chr8:5981454-6104273
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:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:6079332..6082540-chr8:6084426..6086508,3	K562	blood:
2	chr8:6080157..6081666-chr8:6091415..6093477,2	MCF-7	breast:
3	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
4	chr8:6079332..6082540-chr8:6084426..6086508,3	K562	blood:
5	chr8:6080157..6081666-chr8:6091415..6093477,2	MCF-7	breast:
6	chr8:6084910..6087836-chr8:6095267..6098254,2	K562	blood:
7	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
8	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
9	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
10	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
11	chr8:6040393..6043249-chr8:6044843..6046899,2	K562	blood:
12	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:
13	chr10:132324298..132325038-chr8:6023084..6023812,2	MCF-7	breast:
14	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
15	chr8:6084910..6087836-chr8:6095267..6098254,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-11	chr8:6082847-6083064	NONHSAT124769

No data

Extended variants
information (count: 3481 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:3481 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs750835	chr8:5981454-5981455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188866454	chr8:5981462-5981463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560518162	chr8:5981469-5981470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193120983	chr8:5981474-5981475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116131815	chr8:5981518-5981519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs750836	chr8:5981521-5981522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs80051183	chr8:5981545-5981546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183658279	chr8:5981561-5981562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73660538	chr8:5981565-5981566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558569474	chr8:5981578-5981579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143125035	chr8:5981608-5981609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539366050	chr8:5981614-5981615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188414220	chr8:5981654-5981655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs17076072	chr8:5981686-5981687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17076074	chr8:5981709-5981710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570214595	chr8:5981711-5981712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181188451	chr8:5981731-5981732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561181295	chr8:5981738-5981739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539191992	chr8:5981743-5981744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572249562	chr8:5981747-5981748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541576473	chr8:5981762-5981763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558087510	chr8:5981769-5981770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376674390	chr8:5981790-5981791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578176915	chr8:5981793-5981794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs890016	chr8:5981804-5981805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117419502	chr8:5981815-5981816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184340331	chr8:5981817-5981818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189948687	chr8:5981837-5981838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371531623	chr8:5981838-5981839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78461858	chr8:5981840-5981841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377186083	chr8:5981850-5981851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17076075	chr8:5981856-5981857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527404020	chr8:5981895-5981896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17076077	chr8:5981902-5981903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564147016	chr8:5981909-5981910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533180259	chr8:5981971-5981972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369776645	chr8:5981979-5981980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181635125	chr8:5981983-5981984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186778628	chr8:5981989-5981990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192185057	chr8:5982007-5982008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548966606	chr8:5982009-5982010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181926441	chr8:5982012-5982013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534830508	chr8:5982028-5982029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558261787	chr8:5982030-5982031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578099195	chr8:5982038-5982039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73512041	chr8:5982076-5982077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148254732	chr8:5982080-5982081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574390054	chr8:5982090-5982091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141608084	chr8:5982097-5982098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527701647	chr8:5982112-5982113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
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
Epilepsy	22083797	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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5979200-5983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5981400-5981800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:5981400-5981800	Enhancers	Brain Cingulate Gyrus	brain
4	chr8:5981600-5982000	Enhancers	Brain Hippocampus Middle	brain
5	chr8:5981600-5982000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:5981800-5982000	Enhancers	Fetal Stomach	stomach
7	chr8:5982000-5984800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:5983200-5983400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:5983400-5991800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:5984800-5986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:5984800-5986600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:5985000-5985800	Enhancers	NHEK	skin
13	chr8:5985000-5986400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:5986600-5990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:5990200-5994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:5990600-5990800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:5990600-5991200	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:5990800-5991400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:5990800-5992400	Enhancers	Fetal Muscle Leg	muscle
20	chr8:5991400-5991600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:5991400-5991600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:5991400-5991600	Enhancers	Brain Hippocampus Middle	brain
23	chr8:5991400-5991800	Enhancers	Brain Anterior Caudate	brain
24	chr8:5991400-5992200	Enhancers	Fetal Kidney	kidney
25	chr8:5991400-5992800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:5991400-5993400	Enhancers	Brain Angular Gyrus	brain
27	chr8:5991400-5993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:5991400-5994000	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:5991400-5994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:5991400-5994400	Enhancers	Brain Substantia Nigra	brain
31	chr8:5991600-5991800	Enhancers	Fetal Brain Female	brain
32	chr8:5991600-5992200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:5991600-5992200	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr8:5991600-5992800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:5991600-5994400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:5991600-5994600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:5991800-5992000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:5991800-5992200	Flanking Active TSS	Brain Anterior Caudate	brain
39	chr8:5991800-5992400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:5991800-5992400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr8:5991800-5992400	Flanking Active TSS	Fetal Brain Female	brain
42	chr8:5991800-5992600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:5991800-5993200	Enhancers	Brain Germinal Matrix	brain
44	chr8:5991800-5993400	Enhancers	Fetal Brain Male	brain
45	chr8:5991800-5993800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:5991800-5994400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:5992000-5992600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr8:5992000-5994400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:5992200-5992600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:5992200-5992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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