Variant report

Variant	nsv1027240
Chromosome Location	chr8:5994340-6025992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:132324298..132325038-chr8:6023084..6023812,2	MCF-7	breast:
2	chr8:4919838..4920394-chr8:5997449..5998189,2	K562	blood:
3	chr8:5990205..5992800-chr8:5992973..5994775,2	K562	blood:
4	chr8:4919533..4920406-chr8:5997153..5998101,2	MCF-7	breast:
5	chr8:5543604..5544126-chr8:5997197..5997756,2	MCF-7	breast:
6	chr8:5917249..5917976-chr8:5997130..5997653,2	MCF-7	breast:

Extended variants
information (count: 1013 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1013 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544540843	chr8:5994342-5994343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562937576	chr8:5994361-5994362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370441877	chr8:5994391-5994392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7012076	chr8:5994410-5994411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559410073	chr8:5994419-5994420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180721138	chr8:5994422-5994423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551530119	chr8:5994425-5994426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185978732	chr8:5994426-5994427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368792789	chr8:5994444-5994445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150415901	chr8:5994509-5994510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114271357	chr8:5994523-5994524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555238889	chr8:5994527-5994528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548698972	chr8:5994530-5994531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562510157	chr8:5994531-5994532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553156334	chr8:5994536-5994537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566975460	chr8:5994545-5994546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576554139	chr8:5994546-5994547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188529617	chr8:5994582-5994583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2005213	chr8:5994598-5994599	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544502390	chr8:5994614-5994615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374388647	chr8:5994649-5994650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2052648	chr8:5994657-5994658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs571834777	chr8:5994658-5994659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573517601	chr8:5994661-5994662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542625533	chr8:5994670-5994671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2005212	chr8:5994671-5994672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs2005211	chr8:5994682-5994683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369166582	chr8:5994701-5994702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138198582	chr8:5994705-5994706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565070452	chr8:5994713-5994714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530728116	chr8:5994731-5994732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62503551	chr8:5994751-5994752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536791414	chr8:5994752-5994753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2006891	chr8:5994774-5994775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370062237	chr8:5994788-5994789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143757331	chr8:5994791-5994792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35067959	chr8:5994846-5994847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576468753	chr8:5994858-5994859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537722078	chr8:5994883-5994884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546948950	chr8:5994911-5994912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566790215	chr8:5994919-5994920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147184619	chr8:5994927-5994928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543553158	chr8:5994939-5994940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558648991	chr8:5994945-5994946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111523771	chr8:5994947-5994948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181378507	chr8:5994985-5994986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554809455	chr8:5995004-5995005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140519725	chr8:5995017-5995018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142729018	chr8:5995024-5995025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144496830	chr8:5995028-5995029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5990200-5994400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:5991400-5994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:5991400-5994400	Enhancers	Brain Substantia Nigra	brain
4	chr8:5991600-5994400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:5991600-5994600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:5991800-5994400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:5992000-5994400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:5992200-5994400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:5992400-5994400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:5992400-6007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:5992600-5996200	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:5992600-5996600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:5993000-5994600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:5993000-5994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:5993000-5996000	Weak transcription	Brain Anterior Caudate	brain
16	chr8:5993400-5996200	Weak transcription	Brain Angular Gyrus	brain
17	chr8:5993600-5994400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:5993600-5997000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:5993800-5994400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:5993800-5997400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:5994000-5994400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:5994000-5997400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:5994200-5994400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:5994400-5994600	Enhancers	Brain Cingulate Gyrus	brain
25	chr8:5994400-5995200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:5994400-5996200	Weak transcription	Brain Substantia Nigra	brain
27	chr8:5994400-5997200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:5994400-5997400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:5994400-5997600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:5994600-5996000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:5994600-5997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:5995200-5995600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:5995600-5995800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:5995800-5997200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:5996000-5997400	Enhancers	Brain Anterior Caudate	brain
36	chr8:5996000-5998000	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:5996200-5997400	Enhancers	Brain Substantia Nigra	brain
38	chr8:5996200-5998000	Enhancers	Brain Angular Gyrus	brain
39	chr8:5996200-5998000	Enhancers	Brain Hippocampus Middle	brain
40	chr8:5996600-5998000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:5996800-5997000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr8:5997000-5997200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr8:5997200-5997600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:5997200-5997600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:5997200-5998000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr8:5997400-5997600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr8:5997400-5997600	Enhancers	Adipose Nuclei	Adipose
48	chr8:5997400-5997800	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr8:5997400-5997800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr8:5997400-5997800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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