Variant report

Variant	esv3472967
Chromosome Location	chr6:91798520-91800795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:91793633..91795491-chr6:91798341..91801324,2	K562	blood:
2	chr6:91778241..91779921-chr6:91800557..91802726,2	K562	blood:
3	chr6:91793724..91795491-chr6:91797204..91799841,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551616297	chr6:91798572-91798573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9451577	chr6:91798631-91798632	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547695457	chr6:91798672-91798673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9444827	chr6:91798699-91798700	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76970196	chr6:91798726-91798727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567552357	chr6:91798775-91798776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564421834	chr6:91798791-91798792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9451578	chr6:91798802-91798803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570344983	chr6:91798923-91798924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187107830	chr6:91798927-91798928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377691857	chr6:91798929-91798930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369966828	chr6:91798931-91798932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9451579	chr6:91798940-91798941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376634600	chr6:91798956-91798957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577277071	chr6:91798959-91798960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539930749	chr6:91799028-91799029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553878499	chr6:91799057-91799058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573533352	chr6:91799095-91799096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191247735	chr6:91799122-91799123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562605612	chr6:91799157-91799158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150903958	chr6:91799164-91799165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545185815	chr6:91799181-91799182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549812576	chr6:91799194-91799195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565066277	chr6:91799204-91799205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569688178	chr6:91799208-91799209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527532835	chr6:91799209-91799210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535219034	chr6:91799224-91799225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10455175	chr6:91799256-91799257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183490862	chr6:91799262-91799263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566125248	chr6:91799282-91799283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530009460	chr6:91799283-91799284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374744066	chr6:91799284-91799285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550172597	chr6:91799291-91799292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201357616	chr6:91799325-91799326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188169152	chr6:91799329-91799330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139128616	chr6:91799375-91799376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558862220	chr6:91799398-91799399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77123662	chr6:91799458-91799459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375484032	chr6:91799459-91799460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74643079	chr6:91799460-91799461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397965579	chr6:91799473-91799474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565931411	chr6:91799478-91799479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535248544	chr6:91799479-91799480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553567952	chr6:91799535-91799536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573692652	chr6:91799563-91799564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117877137	chr6:91799566-91799567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76235072	chr6:91799567-91799568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182276720	chr6:91799570-91799571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545321177	chr6:91799573-91799574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565209822	chr6:91799598-91799599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:91796600-91798600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:91796800-91798800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:91797000-91798800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:91797000-91799000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:91797400-91798600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:91797400-91798600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:91797400-91799000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:91797400-91799200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:91797600-91799200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr6:91797600-91806600	Weak transcription	Fetal Stomach	stomach
11	chr6:91798000-91798600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:91798200-91799200	Enhancers	Ovary	ovary
13	chr6:91798400-91799200	Enhancers	Fetal Heart	heart
14	chr6:91798400-91807200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:91798600-91806400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:91799000-91799200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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