Variant report

Variant	esv34066
Chromosome Location	chr6:93699439-93756934
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:93721414..93723700-chr6:93724604..93727201,3	MCF-7	breast:
2	chr6:93749711..93751923-chr6:93752867..93755308,2	MCF-7	breast:
3	chr6:93721414..93723700-chr6:93724604..93727201,3	MCF-7	breast:
4	chr6:93698868..93701522-chr6:93703182..93705134,2	MCF-7	breast:
5	chr6:93749711..93751923-chr6:93752867..93755308,2	MCF-7	breast:
6	chr6:93698868..93701522-chr6:93703182..93705134,2	MCF-7	breast:
7	chr6:93520687..93521206-chr6:93726686..93727450,3	MCF-7	breast:

Extended variants
information (count: 1065 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1065 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556495	chr6:93699439-93699440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545206712	chr6:93699441-93699442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377490997	chr6:93699457-93699458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9353973	chr6:93699533-93699534	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537999506	chr6:93699546-93699547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190288419	chr6:93699550-93699551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547771216	chr6:93699619-93699620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566388074	chr6:93699653-93699654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529166186	chr6:93699667-93699668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533925858	chr6:93699702-93699703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182517096	chr6:93699734-93699735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548738515	chr6:93699736-93699737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568737367	chr6:93699749-93699750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370361612	chr6:93699761-93699762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537927714	chr6:93699812-93699813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557606794	chr6:93699817-93699818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571217564	chr6:93699821-93699822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145688321	chr6:93699876-93699877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188061971	chr6:93699916-93699917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192244996	chr6:93699917-93699918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567307545	chr6:93699954-93699955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556779504	chr6:93699959-93699960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576751935	chr6:93699975-93699976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111443548	chr6:93700015-93700016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565186369	chr6:93700045-93700046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572510166	chr6:93700062-93700063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541032029	chr6:93700097-93700098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570531109	chr6:93700102-93700103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184157950	chr6:93700129-93700130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368088194	chr6:93700185-93700186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527895416	chr6:93722414-93722415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547450142	chr6:93722415-93722416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567443301	chr6:93722418-93722419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536224718	chr6:93722447-93722448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150046839	chr6:93722487-93722488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193001707	chr6:93722520-93722521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184702764	chr6:93722537-93722538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76573885	chr6:93722628-93722629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569574533	chr6:93722672-93722673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143923580	chr6:93722682-93722683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73755281	chr6:93722696-93722697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369218532	chr6:93722741-93722742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540440195	chr6:93722795-93722796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553877024	chr6:93722831-93722832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186920608	chr6:93722852-93722853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543901957	chr6:93722868-93722869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73534022	chr6:93722935-93722936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530217321	chr6:93722956-93722957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562508446	chr6:93722957-93722958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532029379	chr6:93722994-93722995	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93699000-93700200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:93699200-93700000	Enhancers	NH-A	brain
3	chr6:93699400-93700000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:93722400-93722800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:93722400-93723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:93722600-93723000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:93726800-93727000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:93726800-93727200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr6:93727200-93730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:93730600-93731600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:93730800-93732200	Enhancers	Fetal Brain Female	brain
12	chr6:93730800-93732400	Enhancers	Fetal Brain Male	brain
13	chr6:93740800-93746800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:93746800-93747200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr6:93746800-93747400	ZNF genes & repeats	Gastric	stomach
16	chr6:93746800-93747600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:93747000-93747600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:93747800-93748000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:93748000-93754200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:93748600-93750000	Enhancers	HUVEC	blood vessel
21	chr6:93748800-93750400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr6:93749000-93750000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:93749000-93751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:93749400-93751800	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr6:93749600-93750600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:93749600-93750800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:93749800-93750200	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:93749800-93750600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:93749800-93750800	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:93750000-93750400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:93750000-93750400	Flanking Active TSS	HUVEC	blood vessel
32	chr6:93750000-93750600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:93750000-93750600	Enhancers	NH-A	brain
34	chr6:93750000-93750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr6:93750200-93750400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:93750200-93750400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:93750200-93750600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr6:93750400-93750600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:93750400-93750800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:93750400-93751000	Enhancers	HUVEC	blood vessel
41	chr6:93750400-93751400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:93750400-93754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:93750600-93751000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr6:93750600-93753600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:93750600-93754600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:93750600-93756800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:93750800-93754400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:93750800-93754400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:93750800-93754600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr6:93753400-93753800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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