Variant report

Variant	esv3359563
Chromosome Location	chr8:3210645-3213943
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	chr8:3208152..3210922-chr8:3213074..3214852,2	K562	blood:
2	chr8:3208152..3210922-chr8:3213074..3214852,2	K562	blood:

Extended variants
information (count: 272 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553902113	chr8:3210653-3210654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570398611	chr8:3210686-3210687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10102960	chr8:3210699-3210700	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs549841212	chr8:3210746-3210747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192149531	chr8:3210750-3210751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150588614	chr8:3210753-3210754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536541535	chr8:3210786-3210787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139592543	chr8:3210787-3210788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113075829	chr8:3210788-3210789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554980346	chr8:3210801-3210802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539652146	chr8:3210826-3210827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557606347	chr8:3210845-3210846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2100120	chr8:3210855-3210856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543403736	chr8:3210859-3210860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113817343	chr8:3210869-3210870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555354087	chr8:3210877-3210878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574034035	chr8:3210899-3210900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541189220	chr8:3210915-3210916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559863398	chr8:3210927-3210928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140836788	chr8:3210934-3210935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542758424	chr8:3210935-3210936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543837702	chr8:3210982-3210983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545612216	chr8:3210999-3211000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117915260	chr8:3211010-3211011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144683806	chr8:3211033-3211034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549751389	chr8:3211041-3211042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568084681	chr8:3211042-3211043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528946586	chr8:3211052-3211053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547157857	chr8:3211053-3211054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182439316	chr8:3211059-3211060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111439632	chr8:3211060-3211061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577616508	chr8:3211066-3211067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557573558	chr8:3211092-3211093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569576072	chr8:3211100-3211101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17065861	chr8:3211123-3211124	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs539376526	chr8:3211147-3211148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545112069	chr8:3211162-3211163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187033266	chr8:3211177-3211178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192181742	chr8:3211183-3211184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368203016	chr8:3211200-3211201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529237577	chr8:3211219-3211220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34546178	chr8:3211237-3211238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553170840	chr8:3211240-3211241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73173122	chr8:3211241-3211242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563875949	chr8:3211244-3211245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs924734	chr8:3211252-3211253	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184445779	chr8:3211267-3211268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561657379	chr8:3211271-3211272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528859868	chr8:3211282-3211283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547414308	chr8:3211283-3211284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3188000-3215600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3210800-3211400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:3211000-3211200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr8:3211200-3211800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:3211400-3212000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:3211800-3212000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:3213200-3215800	Weak transcription	Brain Anterior Caudate	brain
8	chr8:3213600-3215600	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links