Variant report

Variant	esv2762607
Chromosome Location	chr6:93180428-93214365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:93198648..93200949-chr6:93203987..93205670,2	MCF-7	breast:
2	chr6:93198648..93200949-chr6:93203987..93205670,2	MCF-7	breast:

Extended variants
information (count: 579 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532452426	chr6:93182223-93182224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2730850	chr6:93182233-93182234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559305297	chr6:93182245-93182246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571429041	chr6:93182263-93182264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536913061	chr6:93182290-93182291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567791101	chr6:93182294-93182295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144711953	chr6:93182295-93182296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577420125	chr6:93182315-93182316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550872589	chr6:93182338-93182339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570915338	chr6:93182349-93182350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540128362	chr6:93182369-93182370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553385957	chr6:93182397-93182398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186935545	chr6:93182409-93182410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147916232	chr6:93182419-93182420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555926389	chr6:93182459-93182460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368237812	chr6:93182480-93182481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575830062	chr6:93182482-93182483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544685760	chr6:93182516-93182517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141520668	chr6:93182522-93182523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191822066	chr6:93182536-93182537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9452023	chr6:93182537-93182538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546126813	chr6:93182551-93182552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563893920	chr6:93182620-93182621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371374249	chr6:93182702-93182703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1896234	chr6:93182761-93182762	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs181209941	chr6:93182811-93182812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561310833	chr6:93182875-93182876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199684913	chr6:93182939-93182940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200997139	chr6:93182958-93182959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574965517	chr6:93182974-93182975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1427143	chr6:93183034-93183035	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550213201	chr6:93183051-93183052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185304310	chr6:93183138-93183139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549623663	chr6:93183149-93183150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145380131	chr6:93183246-93183247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560209057	chr6:93183254-93183255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1427142	chr6:93183255-93183256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577826690	chr6:93183316-93183317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200488269	chr6:93183317-93183318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555816321	chr6:93183319-93183320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569237953	chr6:93183324-93183325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113060107	chr6:93183372-93183373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538348486	chr6:93183378-93183379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528450850	chr6:93183402-93183403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557969903	chr6:93183467-93183468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76719198	chr6:93183490-93183491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs76238998	chr6:93183498-93183499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553102176	chr6:93183511-93183512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189762224	chr6:93183534-93183535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541681274	chr6:93183573-93183574	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
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
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
T-cell acute lymphoblastic leukemia	19406988	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93182200-93182600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr6:93182200-93182800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:93182400-93182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:93182400-93182800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:93182400-93182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:93182800-93183600	Enhancers	HUVEC	blood vessel
7	chr6:93189400-93190200	Enhancers	HUVEC	blood vessel
8	chr6:93189600-93190000	Enhancers	Fetal Heart	heart
9	chr6:93190000-93191400	Weak transcription	Fetal Heart	heart
10	chr6:93191400-93192000	Enhancers	Fetal Heart	heart
11	chr6:93192000-93198000	Weak transcription	Fetal Heart	heart
12	chr6:93198000-93199000	Enhancers	Fetal Heart	heart
13	chr6:93204200-93205000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:93204400-93205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:93205000-93205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:93205000-93206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:93205200-93206200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:93205200-93206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:93206200-93206400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:93206200-93206600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:93206200-93206600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:93206200-93206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:93206200-93206600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:93206200-93206600	Enhancers	Ovary	ovary
25	chr6:93206200-93206800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:93206800-93207800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:93207800-93208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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