Variant report

Variant	esv3376378
Chromosome Location	chr8:1412149-1413149
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	chr8:1407170..1410057-chr8:1410241..1414268,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186622576	chr8:1412177-1412178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539404730	chr8:1412178-1412179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116388571	chr8:1412181-1412182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534640850	chr8:1412222-1412223	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572969320	chr8:1412226-1412227	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115512286	chr8:1412235-1412236	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143150765	chr8:1412247-1412248	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191420108	chr8:1412248-1412249	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73672722	chr8:1412249-1412250	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs535284284	chr8:1412262-1412263	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544878998	chr8:1412295-1412296	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147688314	chr8:1412296-1412297	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs578196882	chr8:1412305-1412306	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201156046	chr8:1412307-1412308	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79092104	chr8:1412313-1412314	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539817733	chr8:1412315-1412316	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112244107	chr8:1412323-1412324	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528977026	chr8:1412326-1412327	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74547392	chr8:1412334-1412335	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549148305	chr8:1412336-1412337	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79073338	chr8:1412337-1412338	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79601116	chr8:1412345-1412346	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562665344	chr8:1412347-1412348	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77487721	chr8:1412357-1412358	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531367049	chr8:1412358-1412359	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372674243	chr8:1412370-1412371	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551556605	chr8:1412374-1412375	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202044396	chr8:1412385-1412386	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78187477	chr8:1412386-1412387	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200969034	chr8:1412389-1412390	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571423762	chr8:1412393-1412394	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201986242	chr8:1412396-1412397	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373340197	chr8:1412400-1412401	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs200443459	chr8:1412401-1412402	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78907793	chr8:1412402-1412403	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs202034904	chr8:1412417-1412418	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73534673	chr8:1412418-1412419	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79555624	chr8:1412421-1412422	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs74449427	chr8:1412434-1412435	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs370672153	chr8:1412435-1412436	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs80041431	chr8:1412438-1412439	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs74193927	chr8:1412453-1412454	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs151232425	chr8:1412465-1412466	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372831392	chr8:1412469-1412470	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs375913415	chr8:1412476-1412477	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77534150	chr8:1412482-1412483	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs72507645	chr8:1412485-1412486	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs74354693	chr8:1412498-1412499	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74728762	chr8:1412501-1412502	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372124804	chr8:1412509-1412510	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1405200-1412200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1410800-1412200	Enhancers	Left Ventricle	heart
3	chr8:1410800-1412400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:1411600-1416000	Enhancers	Spleen	Spleen
5	chr8:1411800-1412200	Enhancers	Adipose Nuclei	Adipose
6	chr8:1411800-1413000	Enhancers	Right Ventricle	heart
7	chr8:1412000-1412600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:1412200-1412400	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr8:1412200-1412600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr8:1412200-1412600	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr8:1412200-1412600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:1412200-1412800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1412200-1412800	Weak transcription	Left Ventricle	heart
14	chr8:1412400-1412600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr8:1412400-1412600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:1412400-1412800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr8:1412400-1413000	Enhancers	Pancreas	Pancrea
18	chr8:1412600-1413000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
19	chr8:1412600-1413600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:1412600-1413800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:1412600-1416400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:1412800-1413000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:1412800-1413000	Enhancers	Left Ventricle	heart
24	chr8:1412800-1413000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:1412800-1415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:1413000-1414200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:1413000-1414400	Weak transcription	Pancreas	Pancrea

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