Variant report

Variant	esv3474026
Chromosome Location	chr6:58301466-58314683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 451 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550305163	chr6:58301504-58301505	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530152276	chr6:58301617-58301618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369940626	chr6:58301619-58301620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373610898	chr6:58301633-58301634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185748515	chr6:58301651-58301652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531620537	chr6:58301669-58301670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376843701	chr6:58301674-58301675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550140761	chr6:58301689-58301690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571262356	chr6:58301691-58301692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2981996	chr6:58301693-58301694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2981997	chr6:58301694-58301695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141433016	chr6:58301695-58301696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547422997	chr6:58301696-58301697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565731925	chr6:58301698-58301699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10598984	chr6:58301699-58301700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201620649	chr6:58301717-58301718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535984371	chr6:58301723-58301724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374978840	chr6:58301776-58301777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555121492	chr6:58301781-58301782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199628253	chr6:58301783-58301784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576592899	chr6:58301786-58301787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537337862	chr6:58301788-58301789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200495731	chr6:58301797-58301798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558868593	chr6:58301801-58301802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570200533	chr6:58301829-58301830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143485837	chr6:58301831-58301832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559511006	chr6:58301911-58301912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369021898	chr6:58301968-58301969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539078556	chr6:58302126-58302127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541993667	chr6:58302138-58302139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546256190	chr6:58302148-58302149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561129587	chr6:58302172-58302173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372889785	chr6:58302192-58302193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs693484	chr6:58302194-58302195	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs565138957	chr6:58302232-58302233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535021751	chr6:58302366-58302367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532461483	chr6:58302397-58302398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547386080	chr6:58302400-58302401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555203505	chr6:58302433-58302434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565566836	chr6:58302464-58302465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529778304	chr6:58302471-58302472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370226682	chr6:58302485-58302486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373832816	chr6:58302526-58302527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139109087	chr6:58302556-58302557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142554204	chr6:58302564-58302565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191633215	chr6:58302566-58302567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558735913	chr6:58302585-58302586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575133427	chr6:58302595-58302596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150964824	chr6:58302633-58302634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535014002	chr6:58302637-58302638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	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
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Neuroblastoma	16790693	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
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58293000-58309600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:58301200-58301600	Active TSS	K562	blood
3	chr6:58301200-58310800	Weak transcription	Ovary	ovary
4	chr6:58301600-58302400	Weak transcription	K562	blood
5	chr6:58302200-58303200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:58302400-58302600	Enhancers	K562	blood
7	chr6:58302400-58303200	Enhancers	NHDF-Ad	bronchial
8	chr6:58302600-58303200	Enhancers	HSMM	muscle
9	chr6:58302600-58303400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:58303200-58309000	Weak transcription	HSMM	muscle
11	chr6:58307400-58307600	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:58307600-58307800	Enhancers	HSMMtube	muscle
13	chr6:58307600-58308400	Enhancers	Fetal Muscle Leg	muscle
14	chr6:58307800-58309600	Weak transcription	HSMMtube	muscle
15	chr6:58308400-58310400	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:58309000-58313000	Enhancers	HSMM	muscle
17	chr6:58309600-58310200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:58309600-58310800	Enhancers	NHDF-Ad	bronchial
19	chr6:58309600-58311000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:58309600-58311000	Enhancers	Fetal Heart	heart
21	chr6:58309600-58313000	Enhancers	HSMMtube	muscle
22	chr6:58309800-58310600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:58310200-58311800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr6:58310400-58311200	Enhancers	Fetal Muscle Leg	muscle
25	chr6:58310800-58311000	Enhancers	Ovary	ovary
26	chr6:58311000-58312000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:58311000-58312200	Weak transcription	Ovary	ovary
28	chr6:58311200-58312200	Weak transcription	Fetal Muscle Leg	muscle
29	chr6:58311800-58312000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr6:58312000-58312200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:58312000-58313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:58312000-58313000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:58312200-58312400	Enhancers	Fetal Muscle Leg	muscle
34	chr6:58312200-58312400	Enhancers	Ovary	ovary
35	chr6:58312200-58312600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:58312600-58313000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr6:58313000-58313200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr6:58313000-58314800	Weak transcription	HSMM	muscle
39	chr6:58313200-58317800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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