Variant report

Variant	esv16357
Chromosome Location	chr8:3096059-3101036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 532 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:532 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571446687	chr8:3096068-3096069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530594869	chr8:3096075-3096076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550331579	chr8:3096125-3096126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564040346	chr8:3096136-3096137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533003609	chr8:3096144-3096145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs57076031	chr8:3096168-3096169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566459425	chr8:3096173-3096174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535381249	chr8:3096176-3096177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548884942	chr8:3096177-3096178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375129940	chr8:3096178-3096179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568699563	chr8:3096192-3096193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537665732	chr8:3096199-3096200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369650066	chr8:3096210-3096211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs570868207	chr8:3096218-3096219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs193278924	chr8:3096243-3096244	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs57019710	chr8:3096245-3096246	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184414298	chr8:3096247-3096248	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs541746970	chr8:3096256-3096257	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs140504203	chr8:3096288-3096289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs575159691	chr8:3096295-3096296	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs544009994	chr8:3096304-3096305	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs112001408	chr8:3096324-3096325	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs536964610	chr8:3096345-3096346	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs187554732	chr8:3096350-3096351	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs58299047	chr8:3096351-3096352	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559927673	chr8:3096355-3096356	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs528874134	chr8:3096360-3096361	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs576650397	chr8:3096384-3096385	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs568897323	chr8:3096401-3096402	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs548972338	chr8:3096407-3096408	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs568787006	chr8:3096466-3096467	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs146553682	chr8:3096502-3096503	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs550899810	chr8:3096503-3096504	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs557785660	chr8:3096508-3096509	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs4472538	chr8:3096509-3096510	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539591166	chr8:3096514-3096515	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs553406939	chr8:3096540-3096541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs191649227	chr8:3096549-3096550	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs201557586	chr8:3096560-3096561	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs139041206	chr8:3096567-3096568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs555300900	chr8:3096587-3096588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs77460298	chr8:3096589-3096590	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs148994837	chr8:3096612-3096613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4644282	chr8:3096644-3096645	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs184191858	chr8:3096670-3096671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577753213	chr8:3096675-3096676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539981913	chr8:3096680-3096681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78652821	chr8:3096699-3096700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574003773	chr8:3096701-3096702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143768105	chr8:3096709-3096710	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3094600-3096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:3095000-3096200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:3095200-3096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:3096200-3096600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:3096200-3096600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr8:3096200-3097200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:3096600-3096800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:3096800-3097600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:3097200-3099800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:3097600-3097800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:3099000-3099200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
12	chr8:3099200-3099800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr8:3099200-3100200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr8:3099600-3099800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr8:3099600-3100000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr8:3099600-3100000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:3099600-3101000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
18	chr8:3099800-3100000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:3099800-3100000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
20	chr8:3099800-3100000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr8:3099800-3101000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr8:3100000-3100400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:3100000-3101400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr8:3100000-3101600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr8:3100200-3100400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:3100200-3100600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr8:3100200-3101000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr8:3100400-3100800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:3100400-3101600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr8:3100800-3101000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr8:3100800-3101400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:3100800-3102600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:3101000-3101200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr8:3101000-3101400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr8:3101000-3101600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
36	chr8:3101000-3101600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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