Variant report

Variant	esv3394564
Chromosome Location	chr8:1836070-1839118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 369 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558612976	chr8:1836072-1836073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113854897	chr8:1836073-1836074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565639630	chr8:1836079-1836080	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534569600	chr8:1836080-1836081	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554618310	chr8:1836083-1836084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115633917	chr8:1836085-1836086	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62477545	chr8:1836101-1836102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62477546	chr8:1836105-1836106	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62477547	chr8:1836125-1836126	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62477548	chr8:1836129-1836130	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111544479	chr8:1836141-1836142	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73542928	chr8:1836151-1836152	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111903642	chr8:1836175-1836176	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557326803	chr8:1836194-1836195	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576957306	chr8:1836200-1836201	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200902915	chr8:1836207-1836208	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112349008	chr8:1836212-1836213	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113491495	chr8:1836221-1836222	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557582556	chr8:1836223-1836224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183996061	chr8:1836228-1836229	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545725068	chr8:1836230-1836231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565334173	chr8:1836231-1836232	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73542930	chr8:1836240-1836241	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527793816	chr8:1836241-1836242	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386720707	chr8:1836253-1836254	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541382362	chr8:1836256-1836257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73671025	chr8:1836257-1836258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546382559	chr8:1836259-1836260	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530067347	chr8:1836271-1836272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199560742	chr8:1836277-1836278	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377166600	chr8:1836280-1836281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77949204	chr8:1836281-1836282	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76280282	chr8:1836282-1836283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12680817	chr8:1836290-1836291	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200720596	chr8:1836291-1836292	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201407720	chr8:1836293-1836294	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147250900	chr8:1836296-1836297	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79691256	chr8:1836300-1836301	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570057039	chr8:1836307-1836308	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532738644	chr8:1836308-1836309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552503093	chr8:1836318-1836319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13277815	chr8:1836320-1836321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374801959	chr8:1836326-1836327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201614564	chr8:1836338-1836339	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs118144551	chr8:1836339-1836340	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80109979	chr8:1836346-1836347	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12680837	chr8:1836349-1836350	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199964501	chr8:1836352-1836353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534438517	chr8:1836353-1836354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142550695	chr8:1836355-1836356	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:179 , 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	chr8:1816200-1845000	Weak transcription	Hela-S3	cervix
9	chr8:1817000-1836600	Weak transcription	Fetal Kidney	kidney
10	chr8:1817000-1838000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:1820200-1842800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:1820600-1840000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr8:1822000-1844000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:1822200-1844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:1822600-1839800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:1823600-1836400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr8:1823800-1838800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:1823800-1839600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:1824200-1840000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:1824400-1841000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:1827800-1844000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:1828600-1858800	Weak transcription	Colonic Mucosa	Colon
26	chr8:1829400-1836200	Strong transcription	Fetal Muscle Leg	muscle
27	chr8:1830400-1839800	Strong transcription	Fetal Brain Female	brain
28	chr8:1831400-1836600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:1831400-1839000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:1831400-1840800	Weak transcription	Fetal Heart	heart
31	chr8:1831800-1839000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:1832000-1836400	Strong transcription	Ovary	ovary
33	chr8:1832000-1841600	Weak transcription	NHDF-Ad	bronchial
34	chr8:1832200-1839000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:1832400-1840800	Weak transcription	Stomach Mucosa	stomach
36	chr8:1832600-1842400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:1833000-1838800	Strong transcription	Adipose Nuclei	Adipose
38	chr8:1833200-1836200	Strong transcription	HSMMtube	muscle
39	chr8:1833200-1839200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:1833400-1839200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:1833600-1836200	Strong transcription	Osteobl	bone
42	chr8:1833600-1838600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:1833800-1836200	Strong transcription	Left Ventricle	heart
44	chr8:1833800-1836200	Strong transcription	NHEK	skin
45	chr8:1833800-1836400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:1833800-1836400	Strong transcription	Lung	lung
47	chr8:1833800-1836600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:1833800-1836800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:1833800-1837200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:1833800-1837200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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