Variant report

Variant	esv3418345
Chromosome Location	chr6:121176302-121199455
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	chr6:121184522..121185022-chr8:43092430..43092931,2	MCF-7	breast:
2	chr6:121184522..121185022-chr8:43092431..43093292,2	MCF-7	breast:

Extended variants
information (count: 235 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:235 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535731044	chr6:121192417-121192418	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs28609693	chr6:121192427-121192428	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs188254019	chr6:121192462-121192463	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549401684	chr6:121192521-121192522	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs148807358	chr6:121192523-121192524	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538985963	chr6:121192537-121192538	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs151254929	chr6:121192641-121192642	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572561354	chr6:121192671-121192672	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192540055	chr6:121192713-121192714	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555091379	chr6:121192718-121192719	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185326802	chr6:121192750-121192751	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373480686	chr6:121192752-121192753	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376594908	chr6:121192782-121192783	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2357969	chr6:121192801-121192802	Enhancers Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563553537	chr6:121192813-121192814	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs576250879	chr6:121192825-121192826	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs544981199	chr6:121192827-121192828	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188246801	chr6:121192840-121192841	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139297597	chr6:121192880-121192881	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547232853	chr6:121192888-121192889	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs560636437	chr6:121192937-121192938	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192592945	chr6:121192942-121192943	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549338798	chr6:121192955-121192956	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs61440818	chr6:121192975-121192976	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150000232	chr6:121193025-121193026	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs115879299	chr6:121193091-121193092	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566403883	chr6:121193113-121193114	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535213422	chr6:121193135-121193136	Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs184836013	chr6:121193203-121193204	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574956986	chr6:121193223-121193224	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537556040	chr6:121193254-121193255	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557278884	chr6:121193286-121193287	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377336669	chr6:121193295-121193296	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77333507	chr6:121193306-121193307	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575048353	chr6:121193340-121193341	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546228365	chr6:121193381-121193382	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115138370	chr6:121193399-121193400	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572045433	chr6:121193410-121193411	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539259040	chr6:121193434-121193435	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77584192	chr6:121193438-121193439	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs529708105	chr6:121193446-121193447	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs543123988	chr6:121193457-121193458	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs140316465	chr6:121193465-121193466	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532002132	chr6:121193484-121193485	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560643425	chr6:121193502-121193503	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs566219217	chr6:121193569-121193570	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs572624107	chr6:121193580-121193581	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs548763945	chr6:121193593-121193594	Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs568677242	chr6:121193603-121193604	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537493364	chr6:121193653-121193654	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121192400-121192800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:121192400-121193200	Active TSS	Hela-S3	cervix
3	chr6:121192600-121193400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr6:121192800-121194000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:121193000-121193400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:121193400-121193600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:121194000-121195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:121195600-121195800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:121195600-121198600	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:121195800-121196000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:121197000-121197400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:121197600-121198000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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