Variant report

Variant	esv1007633
Chromosome Location	chr8:1841924-1843765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1842826..1843459-chr8:1992468..1993115,2	K562	blood:
2	chr8:1839996..1842403-chr8:1970017..1972283,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143404749	chr8:1841989-1841990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539916153	chr8:1842054-1842055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538056280	chr8:1842068-1842069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557829310	chr8:1842088-1842089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62477555	chr8:1842104-1842105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564994403	chr8:1842121-1842122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147148358	chr8:1842137-1842138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113087522	chr8:1842138-1842139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576991155	chr8:1842140-1842141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7015796	chr8:1842163-1842164	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573319464	chr8:1842166-1842167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542868835	chr8:1842184-1842185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186044753	chr8:1842197-1842198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531531339	chr8:1842207-1842208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544915644	chr8:1842227-1842228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367655018	chr8:1842245-1842246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533493547	chr8:1842289-1842290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559293083	chr8:1842300-1842301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573891663	chr8:1842315-1842316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566836526	chr8:1842318-1842319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536453124	chr8:1842337-1842338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35789666	chr8:1842338-1842339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201572685	chr8:1842352-1842353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529278509	chr8:1842354-1842355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190457311	chr8:1842367-1842368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569494578	chr8:1842406-1842407	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528023568	chr8:1842438-1842439	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557960319	chr8:1842470-1842471	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139475932	chr8:1842471-1842472	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183274179	chr8:1842480-1842481	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367818496	chr8:1842507-1842508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3758003	chr8:1842511-1842512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573255520	chr8:1842515-1842516	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149314318	chr8:1842526-1842527	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200412472	chr8:1842561-1842562	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576293315	chr8:1842563-1842564	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140952059	chr8:1842573-1842574	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371244507	chr8:1842582-1842583	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150372520	chr8:1842613-1842614	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs146529284	chr8:1842620-1842621	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141003957	chr8:1842629-1842630	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs374059529	chr8:1842648-1842649	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs367890432	chr8:1842654-1842655	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372019177	chr8:1842661-1842662	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs527497383	chr8:1842663-1842664	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs376608548	chr8:1842668-1842669	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs144726787	chr8:1842674-1842675	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs138680466	chr8:1842675-1842676	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148840693	chr8:1842688-1842689	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs199763780	chr8:1842691-1842692	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	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:226 , 50 per page) page: 1 2 3 4 5

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	chr8:1808600-1848400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:1816200-1845000	Weak transcription	Hela-S3	cervix
6	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:1820200-1842800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:1822000-1844000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:1822200-1844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:1827800-1844000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:1828600-1858800	Weak transcription	Colonic Mucosa	Colon
14	chr8:1832600-1842400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:1833800-1844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:1835200-1844800	Weak transcription	Placenta	Placenta
17	chr8:1835200-1845000	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:1835400-1842800	Weak transcription	HMEC	breast
19	chr8:1835600-1842600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:1835800-1842400	Weak transcription	A549	lung
21	chr8:1836000-1842600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:1836000-1844000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:1836200-1842400	Weak transcription	Left Ventricle	heart
24	chr8:1836200-1842600	Weak transcription	HSMMtube	muscle
25	chr8:1836200-1857400	Weak transcription	Esophagus	oesophagus
26	chr8:1836400-1852800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:1836600-1843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:1836800-1842800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:1837200-1842600	Weak transcription	Fetal Kidney	kidney
30	chr8:1837200-1842600	Weak transcription	Right Ventricle	heart
31	chr8:1837200-1844800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:1837400-1843600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:1838000-1844000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr8:1838200-1842600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:1838400-1842400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:1838400-1842600	Weak transcription	Fetal Lung	lung
37	chr8:1838600-1842600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:1838600-1842600	Weak transcription	Spleen	Spleen
39	chr8:1838600-1842600	Weak transcription	NHLF	lung
40	chr8:1838800-1842400	Weak transcription	Osteobl	bone
41	chr8:1838800-1842600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:1838800-1842600	Weak transcription	Adipose Nuclei	Adipose
43	chr8:1838800-1842600	Weak transcription	Aorta	Aorta
44	chr8:1838800-1842600	Weak transcription	NHEK	skin
45	chr8:1839000-1842600	Weak transcription	Ovary	ovary
46	chr8:1839000-1842600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr8:1839000-1845000	Weak transcription	Pancreas	Pancrea
48	chr8:1839200-1842600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:1839200-1842600	Weak transcription	NH-A	brain
50	chr8:1839200-1842800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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