Variant report

Variant	esv3475251
Chromosome Location	chr6:93205171-93208018
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:

Extended variants
information (count: 114 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9452031	chr6:93205197-93205198	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576375135	chr6:93205216-93205217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546042781	chr6:93205217-93205218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544680327	chr6:93205270-93205271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183919452	chr6:93205357-93205358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79582226	chr6:93205379-93205380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375108464	chr6:93205387-93205388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527444757	chr6:93205404-93205405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564902065	chr6:93205464-93205465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547450381	chr6:93205467-93205468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555906595	chr6:93205530-93205531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530247188	chr6:93205627-93205628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549935425	chr6:93205658-93205659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189131134	chr6:93205659-93205660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144021135	chr6:93205662-93205663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3919619	chr6:93205677-93205678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541806897	chr6:93205723-93205724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552328602	chr6:93205725-93205726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200627327	chr6:93205760-93205761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs33999689	chr6:93205761-93205762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397886421	chr6:93205769-93205770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566060441	chr6:93205791-93205792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534834691	chr6:93205855-93205856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541533569	chr6:93205862-93205863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572659402	chr6:93205890-93205891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77512992	chr6:93205892-93205893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147162117	chr6:93205944-93205945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140416447	chr6:93205971-93205972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561486370	chr6:93206004-93206005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556345221	chr6:93206097-93206098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576446882	chr6:93206110-93206111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182587271	chr6:93206153-93206154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558299954	chr6:93206292-93206293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185373229	chr6:93206302-93206303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116483190	chr6:93206330-93206331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1030428	chr6:93206366-93206367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372591469	chr6:93206368-93206369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529695729	chr6:93206399-93206400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543619567	chr6:93206428-93206429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563529693	chr6:93206437-93206438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73757027	chr6:93206490-93206491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs552812649	chr6:93206502-93206503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190306535	chr6:93206504-93206505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564667404	chr6:93206575-93206576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528499118	chr6:93206618-93206619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181569682	chr6:93206635-93206636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185784181	chr6:93206639-93206640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537499646	chr6:93206693-93206694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145466553	chr6:93206729-93206730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569847151	chr6:93206800-93206801	Enhancers Weak transcription	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93204400-93205200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:93205000-93205200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:93205000-93206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:93205200-93206200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:93205200-93206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:93206200-93206400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:93206200-93206600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:93206200-93206600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:93206200-93206600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:93206200-93206600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:93206200-93206600	Enhancers	Ovary	ovary
12	chr6:93206200-93206800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:93206800-93207800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:93207800-93208200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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