Variant report

Variant	nsv511395
Chromosome Location	chr8:1833801-1838038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 431 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9657362	chr8:1833801-1833802	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34655804	chr8:1833804-1833805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546137039	chr8:1833811-1833812	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369967335	chr8:1833827-1833828	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147931758	chr8:1833831-1833832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139937386	chr8:1833845-1833846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201660201	chr8:1833847-1833848	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542137480	chr8:1833853-1833854	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562403815	chr8:1833866-1833867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142879329	chr8:1833870-1833871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374464785	chr8:1833897-1833898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377465765	chr8:1833898-1833899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139189713	chr8:1833952-1833953	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2294032	chr8:1833990-1833991	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532898156	chr8:1833991-1833992	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546543095	chr8:1834016-1834017	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75302119	chr8:1834044-1834045	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563829133	chr8:1834048-1834049	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144694367	chr8:1834049-1834050	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548994556	chr8:1834063-1834064	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531005761	chr8:1834076-1834077	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568856436	chr8:1834093-1834094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537602582	chr8:1834105-1834106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374124540	chr8:1834127-1834128	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181600067	chr8:1834128-1834129	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539570775	chr8:1834159-1834160	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553461954	chr8:1834171-1834172	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573141025	chr8:1834174-1834175	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542249315	chr8:1834205-1834206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2294033	chr8:1834237-1834238	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576014165	chr8:1834244-1834245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544778685	chr8:1834258-1834259	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148513813	chr8:1834276-1834277	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533020753	chr8:1834332-1834333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59181947	chr8:1834351-1834352	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185438850	chr8:1834354-1834355	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528877173	chr8:1834366-1834367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377591203	chr8:1834443-1834444	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7387660	chr8:1834448-1834449	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531517381	chr8:1834460-1834461	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551131515	chr8:1834495-1834496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571330324	chr8:1834503-1834504	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551216192	chr8:1834524-1834525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528446325	chr8:1834536-1834537	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534028640	chr8:1834544-1834545	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553183103	chr8:1834545-1834546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78002118	chr8:1834548-1834549	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535435097	chr8:1834555-1834556	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188980801	chr8:1834566-1834567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181374965	chr8:1834673-1834674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:1802200-1845000	Weak transcription	Right Atrium	heart
3	chr8:1806000-1844000	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:1806400-1839800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:1808600-1848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:1812000-1840400	Weak transcription	Fetal Brain Male	brain
7	chr8:1813000-1840800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:1814000-1835200	Weak transcription	Fetal Intestine Large	intestine
9	chr8:1814400-1834800	Weak transcription	Esophagus	oesophagus
10	chr8:1814600-1834000	Weak transcription	Spleen	Spleen
11	chr8:1814800-1834000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:1815200-1835000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:1816200-1845000	Weak transcription	Hela-S3	cervix
14	chr8:1816800-1834000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:1816800-1834800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:1817000-1834600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:1817000-1836600	Weak transcription	Fetal Kidney	kidney
18	chr8:1817000-1838000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:1818600-1834600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:1819000-1834000	Weak transcription	HMEC	breast
21	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:1820200-1842800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:1820600-1840000	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr8:1821800-1834600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:1822000-1844000	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:1822200-1844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:1822400-1834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:1822600-1834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:1822600-1839800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:1823400-1835000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:1823600-1836400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr8:1823800-1838800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:1823800-1839600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:1824200-1840000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:1824400-1841000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr8:1825000-1834000	Weak transcription	HUVEC	blood vessel
39	chr8:1825400-1834200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:1827800-1844000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr8:1828600-1858800	Weak transcription	Colonic Mucosa	Colon
42	chr8:1829400-1834200	Weak transcription	Fetal Lung	lung
43	chr8:1829400-1836200	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:1829800-1835400	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr8:1830200-1834000	Weak transcription	Brain Angular Gyrus	brain
46	chr8:1830200-1834000	Weak transcription	Brain Substantia Nigra	brain
47	chr8:1830200-1834600	Weak transcription	Brain Germinal Matrix	brain
48	chr8:1830200-1834600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:1830400-1834000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:1830400-1839800	Strong transcription	Fetal Brain Female	brain

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