Variant report

Variant	nsv1034751
Chromosome Location	chr8:6188150-6256521
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
2	chr8:6115787..6116559-chr8:6229328..6229869,2	MCF-7	breast:
3	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:
4	chr8:6116111..6116635-chr8:6188825..6189362,2	MCF-7	breast:
5	chr8:6221816..6223744-chr8:6224650..6226459,2	K562	blood:
6	chr8:6253865..6260422-chr8:6262184..6266042,7	K562	blood:
7	chr8:6245309..6247015-chr8:6262084..6263587,2	MCF-7	breast:
8	chr8:6245766..6247303-chr8:6249126..6250864,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-8	chr8:6248485-6250049	ucscGeneNc_uc003wqf_1
2	lnc-ANGPT2-8	chr8:6250635-6251477	ucscGeneNc_uc003wqf_1

No data

Variant related genes	Relation type
ENSG00000246089	chromatin interactions
ENSG00000147316	chromatin interactions

Extended variants
information (count: 3274 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:3274 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541912201	chr8:6188155-6188156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535990604	chr8:6188184-6188185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572501430	chr8:6188190-6188191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543124636	chr8:6188201-6188202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541725003	chr8:6188233-6188234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542913821	chr8:6188241-6188242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557038021	chr8:6188249-6188250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376740590	chr8:6188258-6188259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181242085	chr8:6188261-6188262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556798403	chr8:6188269-6188270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575293130	chr8:6188274-6188275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13277574	chr8:6188337-6188338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11987262	chr8:6188338-6188339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545050741	chr8:6188339-6188340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527463303	chr8:6188358-6188359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547694448	chr8:6188359-6188360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563996218	chr8:6188361-6188362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187100524	chr8:6188385-6188386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539333212	chr8:6188388-6188389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549804593	chr8:6188437-6188438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115008623	chr8:6188451-6188452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564633800	chr8:6188457-6188458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147908232	chr8:6188460-6188461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74443964	chr8:6188472-6188473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189892488	chr8:6188501-6188502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182464417	chr8:6188520-6188521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560310202	chr8:6188527-6188528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576493566	chr8:6188528-6188529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141685968	chr8:6188530-6188531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186115502	chr8:6188551-6188552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544121179	chr8:6188561-6188562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547057198	chr8:6188565-6188566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189731064	chr8:6188612-6188613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576064631	chr8:6188613-6188614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541964448	chr8:6188640-6188641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75962865	chr8:6188655-6188656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182360444	chr8:6188668-6188669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547313649	chr8:6188680-6188681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564297709	chr8:6188709-6188710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549040678	chr8:6188711-6188712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185052732	chr8:6188713-6188714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569725989	chr8:6188725-6188726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147030570	chr8:6188731-6188732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549335805	chr8:6188732-6188733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73508453	chr8:6188738-6188739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147679843	chr8:6188780-6188781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13251950	chr8:6188792-6188793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs13248732	chr8:6188807-6188808	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140879176	chr8:6188827-6188828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539470686	chr8:6188836-6188837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:146)

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
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
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
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Autism	20685689	CNVD
Osteosarcoma	21215367	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6187800-6189800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr8:6188000-6188200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:6188000-6189800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:6188200-6189800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:6188400-6189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:6188400-6189200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:6188400-6190000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:6188600-6188800	Enhancers	Osteobl	bone
9	chr8:6188600-6189000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:6188600-6190000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:6188600-6190000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:6188800-6189800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:6188800-6191800	Weak transcription	Osteobl	bone
14	chr8:6189000-6189400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr8:6189000-6189400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:6189200-6189600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:6189200-6189600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:6189400-6189600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:6189400-6189800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:6189400-6190000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:6189600-6189800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:6189600-6189800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:6189600-6189800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:6189800-6192400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:6189800-6195200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:6190000-6192000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:6191400-6191800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:6191800-6192000	Enhancers	Osteobl	bone
29	chr8:6191800-6192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:6192000-6192200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr8:6192000-6192800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:6192000-6192800	Flanking Active TSS	Osteobl	bone
33	chr8:6192200-6192400	Flanking Active TSS	A549	lung
34	chr8:6192200-6192600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:6192200-6192600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr8:6192200-6192600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:6192200-6192600	Enhancers	Adipose Nuclei	Adipose
38	chr8:6192200-6192600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:6192200-6192800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:6192400-6192600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:6192400-6192600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:6192400-6192800	Active TSS	A549	lung
43	chr8:6192600-6192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:6192600-6196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:6192800-6193000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:6192800-6193000	Enhancers	Osteobl	bone
47	chr8:6192800-6196400	Weak transcription	A549	lung
48	chr8:6193400-6193600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:6193600-6193800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:6193600-6193800	Enhancers	Spleen	Spleen

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