Variant report

Variant	esv2763954
Chromosome Location	chr6:62443751-62469611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189770401	chr6:62460404-62460405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533902206	chr6:62460424-62460425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181000668	chr6:62460438-62460439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567353683	chr6:62460469-62460470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185381989	chr6:62460527-62460528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556287549	chr6:62460530-62460531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554370600	chr6:62460564-62460565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190913887	chr6:62460597-62460598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78747342	chr6:62460606-62460607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554400995	chr6:62460628-62460629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375513388	chr6:62460664-62460665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564819586	chr6:62460666-62460667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565292405	chr6:62460668-62460669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201447822	chr6:62460679-62460680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61576563	chr6:62460682-62460683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575143164	chr6:62460707-62460708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6933788	chr6:62460794-62460795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554589756	chr6:62460798-62460799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558123911	chr6:62460808-62460809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576152689	chr6:62460848-62460849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369706447	chr6:62460854-62460855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115822888	chr6:62460870-62460871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188202727	chr6:62460927-62460928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532285382	chr6:62460929-62460930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144647524	chr6:62460935-62460936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564041460	chr6:62460965-62460966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532151451	chr6:62460986-62460987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559562770	chr6:62460989-62460990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529919838	chr6:62461004-62461005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548103356	chr6:62461013-62461014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148214479	chr6:62461053-62461054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192036309	chr6:62461074-62461075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550209693	chr6:62461112-62461113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571654310	chr6:62461117-62461118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533226798	chr6:62461183-62461184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539196328	chr6:62461215-62461216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554087684	chr6:62461222-62461223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141965224	chr6:62461238-62461239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182985645	chr6:62461254-62461255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555341192	chr6:62461394-62461395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373332067	chr6:62461439-62461440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576066400	chr6:62461451-62461452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543444638	chr6:62461472-62461473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9444708	chr6:62461493-62461494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188373788	chr6:62461498-62461499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191216684	chr6:62461512-62461513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541638921	chr6:62461553-62461554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs115518549	chr6:62461587-62461588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568961293	chr6:62461613-62461614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529888887	chr6:62461616-62461617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Lung cancer	19547694	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Tetralogy of Fallot	22912587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:62460400-62462200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:62461200-62461600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:62461600-62462800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:62463000-62463200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:62468800-62470200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:62469600-62470000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:62469600-62470000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:62469600-62471200	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links