Variant report

Variant	esv14947
Chromosome Location	chr6:58301816-58314410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 420 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570200533	chr6:58301829-58301830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143485837	chr6:58301831-58301832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559511006	chr6:58301911-58301912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369021898	chr6:58301968-58301969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539078556	chr6:58302126-58302127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541993667	chr6:58302138-58302139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546256190	chr6:58302148-58302149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561129587	chr6:58302172-58302173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372889785	chr6:58302192-58302193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs693484	chr6:58302194-58302195	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
11	rs565138957	chr6:58302232-58302233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535021751	chr6:58302366-58302367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532461483	chr6:58302397-58302398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547386080	chr6:58302400-58302401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555203505	chr6:58302433-58302434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565566836	chr6:58302464-58302465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529778304	chr6:58302471-58302472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370226682	chr6:58302485-58302486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373832816	chr6:58302526-58302527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139109087	chr6:58302556-58302557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142554204	chr6:58302564-58302565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191633215	chr6:58302566-58302567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558735913	chr6:58302585-58302586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575133427	chr6:58302595-58302596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150964824	chr6:58302633-58302634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535014002	chr6:58302637-58302638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553316873	chr6:58302664-58302665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368509310	chr6:58302666-58302667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574783278	chr6:58302709-58302710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371444289	chr6:58302714-58302715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542308238	chr6:58302739-58302740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557131143	chr6:58302828-58302829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537633187	chr6:58302850-58302851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575819863	chr6:58302855-58302856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375019419	chr6:58302859-58302860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557524677	chr6:58302917-58302918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543605371	chr6:58302986-58302987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565095362	chr6:58302990-58302991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532424184	chr6:58303007-58303008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540999279	chr6:58303024-58303025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559290913	chr6:58303026-58303027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140548840	chr6:58303087-58303088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181113925	chr6:58303097-58303098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569609537	chr6:58303158-58303159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150025261	chr6:58303159-58303160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186358706	chr6:58303185-58303186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570746673	chr6:58303206-58303207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534978114	chr6:58303264-58303265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553438862	chr6:58303328-58303329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576719840	chr6:58303402-58303403	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:38 , 50 per page) page: 1

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

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