Variant report

Variant	esv2516234
Chromosome Location	chr8:1837465-1839256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 189 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557460685	chr8:1837466-1837467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551197409	chr8:1837521-1837522	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191552127	chr8:1837529-1837530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577158155	chr8:1837541-1837542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375730008	chr8:1837554-1837555	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184091945	chr8:1837582-1837583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559908722	chr8:1837585-1837586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188346973	chr8:1837594-1837595	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546224196	chr8:1837597-1837598	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527430989	chr8:1837599-1837600	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374204367	chr8:1837601-1837602	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191955390	chr8:1837604-1837605	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553344272	chr8:1837623-1837624	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368284180	chr8:1837632-1837633	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573588193	chr8:1837641-1837642	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55794569	chr8:1837661-1837662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55867260	chr8:1837663-1837664	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183058870	chr8:1837666-1837667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55918718	chr8:1837680-1837681	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66989093	chr8:1837694-1837695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs55858104	chr8:1837696-1837697	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370004891	chr8:1837704-1837705	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs55682316	chr8:1837710-1837711	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143949339	chr8:1837713-1837714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562290024	chr8:1837716-1837717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548810481	chr8:1837724-1837725	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531159184	chr8:1837726-1837727	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55927242	chr8:1837727-1837728	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567317647	chr8:1837733-1837734	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79043867	chr8:1837736-1837737	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56207302	chr8:1837739-1837740	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111352505	chr8:1837741-1837742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564248923	chr8:1837746-1837747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376420135	chr8:1837747-1837748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55836015	chr8:1837748-1837749	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532789775	chr8:1837750-1837751	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78268362	chr8:1837753-1837754	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55816869	chr8:1837758-1837759	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546581800	chr8:1837759-1837760	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566392140	chr8:1837770-1837771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148912231	chr8:1837773-1837774	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201286853	chr8:1837810-1837811	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529169655	chr8:1837821-1837822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202022004	chr8:1837825-1837826	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548891067	chr8:1837833-1837834	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549779602	chr8:1837844-1837845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188590019	chr8:1837845-1837846	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569604029	chr8:1837852-1837853	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376039676	chr8:1837865-1837866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537688756	chr8:1837866-1837867	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:159 , 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	chr8:1817000-1838000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:1819000-1853200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:1820200-1842800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:1820600-1840000	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr8:1822000-1844000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:1822200-1844400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:1822600-1839800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:1822800-1858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:1823800-1838800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:1823800-1839600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:1824200-1840000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:1824400-1841000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:1824400-1864800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:1827800-1844000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:1828600-1858800	Weak transcription	Colonic Mucosa	Colon
24	chr8:1830400-1839800	Strong transcription	Fetal Brain Female	brain
25	chr8:1831400-1839000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:1831400-1840800	Weak transcription	Fetal Heart	heart
27	chr8:1831800-1839000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:1832000-1841600	Weak transcription	NHDF-Ad	bronchial
29	chr8:1832200-1839000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:1832400-1840800	Weak transcription	Stomach Mucosa	stomach
31	chr8:1832600-1842400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:1833000-1838800	Strong transcription	Adipose Nuclei	Adipose
33	chr8:1833200-1839200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:1833400-1839200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:1833600-1838600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr8:1833800-1837800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:1833800-1838400	Strong transcription	Gastric	stomach
38	chr8:1833800-1838800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:1833800-1838800	Strong transcription	Aorta	Aorta
40	chr8:1833800-1839000	Strong transcription	Brain Anterior Caudate	brain
41	chr8:1833800-1839200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:1833800-1839800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:1833800-1840000	Strong transcription	Fetal Stomach	stomach
44	chr8:1833800-1840200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:1833800-1844000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:1834000-1838200	Strong transcription	Brain Substantia Nigra	brain
47	chr8:1834000-1838600	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr8:1834000-1838600	Strong transcription	Spleen	Spleen
49	chr8:1834000-1838600	Strong transcription	NHLF	lung
50	chr8:1834000-1838800	Strong transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links