Variant report

Variant	esv3505454
Chromosome Location	chr6:165177088-165186931
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 282 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:282 , 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	rs199906011	chr6:165177218-165177219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567371264	chr6:165177226-165177227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371358097	chr6:165177245-165177246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7747058	chr6:165177313-165177314	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs572872666	chr6:165177345-165177346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76870771	chr6:165177351-165177352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138067143	chr6:165177352-165177353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112568308	chr6:165177354-165177355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147185505	chr6:165177386-165177387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373818620	chr6:165177397-165177398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547721732	chr6:165177402-165177403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113979161	chr6:165177403-165177404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376925996	chr6:165177450-165177451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190278725	chr6:165177477-165177478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542711237	chr6:165177489-165177490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559352140	chr6:165177492-165177493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200528080	chr6:165177508-165177509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565903414	chr6:165177509-165177510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371482420	chr6:165177527-165177528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551719751	chr6:165177529-165177530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565053301	chr6:165177573-165177574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181240233	chr6:165177633-165177634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550510285	chr6:165177669-165177670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138844082	chr6:165177688-165177689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529861411	chr6:165177698-165177699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546695308	chr6:165177710-165177711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566508279	chr6:165177717-165177718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558324601	chr6:165177723-165177724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369872432	chr6:165177762-165177763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113018581	chr6:165177765-165177766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369848369	chr6:165177785-165177786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375103482	chr6:165177841-165177842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558482569	chr6:165177854-165177855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571856571	chr6:165177905-165177906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142827207	chr6:165177907-165177908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557181127	chr6:165177932-165177933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561762033	chr6:165177933-165177934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144484511	chr6:165177980-165177981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186751686	chr6:165177983-165177984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528947366	chr6:165177999-165178000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1995943	chr6:165178024-165178025	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556122096	chr6:165178026-165178027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550701754	chr6:165178064-165178065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1995942	chr6:165178112-165178113	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs569036558	chr6:165178205-165178206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544513969	chr6:165178214-165178215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199733777	chr6:165178248-165178249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542111512	chr6:165178360-165178361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575461583	chr6:165178484-165178485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76149263	chr6:165178503-165178504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165171200-165177200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:165172800-165177400	Weak transcription	Brain Germinal Matrix	brain
3	chr6:165176600-165177600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr6:165176800-165177400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:165176800-165177800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:165176800-165178000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:165176800-165178200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:165176800-165178600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr6:165177000-165178000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:165177200-165177800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:165177200-165177800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr6:165177400-165177800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr6:165177400-165178000	Enhancers	Brain Germinal Matrix	brain
14	chr6:165177400-165182800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:165182800-165183200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:165182800-165183400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:165182800-165183600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:165183000-165183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:165183000-165183400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:165183000-165183600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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