Variant report

Variant	esv3416832
Chromosome Location	chr8:6720192-6722190
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	chr8:6697845..6698797-chr8:6721627..6722536,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs576760491	chr8:6720200-6720201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539032849	chr8:6720204-6720205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183974524	chr8:6720228-6720229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187778331	chr8:6720250-6720251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374296953	chr8:6720270-6720271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542084913	chr8:6720271-6720272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192698548	chr8:6720294-6720295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78603156	chr8:6720300-6720301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541498977	chr8:6720304-6720305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564389438	chr8:6720314-6720315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533384912	chr8:6720318-6720319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549860678	chr8:6720327-6720328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563650168	chr8:6720331-6720332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575025935	chr8:6720374-6720375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73515714	chr8:6720375-6720376	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565915565	chr8:6720398-6720399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575905853	chr8:6720413-6720414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527421503	chr8:6720423-6720424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372601362	chr8:6720427-6720428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544618522	chr8:6720449-6720450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114764545	chr8:6720450-6720451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570403162	chr8:6720459-6720460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62498884	chr8:6720486-6720487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs78402483	chr8:6720496-6720497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570010760	chr8:6720499-6720500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535723353	chr8:6720500-6720501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs76773347	chr8:6720507-6720508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73661498	chr8:6720516-6720517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs561366242	chr8:6720557-6720558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184822348	chr8:6720565-6720566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62498885	chr8:6720577-6720578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62498886	chr8:6720605-6720606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373229029	chr8:6720610-6720611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561593280	chr8:6720614-6720615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563814769	chr8:6720616-6720617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563319607	chr8:6720619-6720620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140345857	chr8:6720659-6720660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs542901336	chr8:6720685-6720686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559575893	chr8:6720721-6720722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528709572	chr8:6720744-6720745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73515719	chr8:6720768-6720769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77897338	chr8:6720776-6720777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188373299	chr8:6720783-6720784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549795787	chr8:6720789-6720790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2978883	chr8:6720799-6720800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs555703604	chr8:6720800-6720801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565951893	chr8:6720811-6720812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192145058	chr8:6720830-6720831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557651627	chr8:6720872-6720873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552625549	chr8:6720882-6720883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	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
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6699600-6721600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:6708800-6721200	Weak transcription	Fetal Stomach	stomach
3	chr8:6709000-6721200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:6712200-6721200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:6712200-6722400	Weak transcription	Fetal Thymus	thymus
6	chr8:6713000-6721400	Weak transcription	Gastric	stomach
7	chr8:6713800-6720800	Weak transcription	Pancreas	Pancrea
8	chr8:6713800-6721400	Weak transcription	Fetal Lung	lung
9	chr8:6713800-6721600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:6713800-6728600	Weak transcription	Dnd41	blood
11	chr8:6714000-6721400	Weak transcription	Stomach Mucosa	stomach
12	chr8:6715600-6721400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:6717000-6721200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:6717800-6721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:6717800-6721200	Weak transcription	Hela-S3	cervix
16	chr8:6718000-6721600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:6718200-6721600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:6718200-6721600	Weak transcription	Fetal Kidney	kidney
19	chr8:6718400-6721200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:6718600-6720200	Weak transcription	Placenta	Placenta
21	chr8:6718600-6721400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr8:6718800-6720200	Weak transcription	Fetal Intestine Large	intestine
23	chr8:6719800-6721600	Enhancers	Esophagus	oesophagus
24	chr8:6719800-6722200	Enhancers	Fetal Intestine Small	intestine
25	chr8:6719800-6723000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:6720000-6721400	Enhancers	NHEK	skin
27	chr8:6720000-6722200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:6720000-6722200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:6720000-6723000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:6720200-6722000	Enhancers	Fetal Intestine Large	intestine
31	chr8:6720200-6722400	Enhancers	Placenta	Placenta
32	chr8:6720800-6725200	Enhancers	Pancreas	Pancrea
33	chr8:6721200-6721400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr8:6721200-6721400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr8:6721200-6721400	Enhancers	Hela-S3	cervix
36	chr8:6721200-6721600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
37	chr8:6721200-6721800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:6721200-6722000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:6721200-6722200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:6721200-6722600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:6721200-6722600	Enhancers	Colonic Mucosa	Colon
42	chr8:6721200-6722600	Enhancers	Fetal Stomach	stomach
43	chr8:6721200-6722800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr8:6721200-6722800	Enhancers	Fetal Muscle Trunk	muscle
45	chr8:6721200-6722800	Enhancers	Fetal Muscle Leg	muscle
46	chr8:6721400-6721600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:6721400-6721600	Enhancers	Gastric	stomach
48	chr8:6721400-6721800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:6721400-6721800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:6721400-6721800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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