Variant report

Variant	esv3474216
Chromosome Location	chr6:106824264-106829499
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	chr6:106819657..106821574-chr6:106823902..106826523,2	MCF-7	breast:

Extended variants
information (count: 198 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559704705	chr6:106824270-106824271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527739665	chr6:106824303-106824304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547563079	chr6:106824370-106824371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183597706	chr6:106824397-106824398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560340551	chr6:106824415-106824416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141341243	chr6:106824506-106824507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552533035	chr6:106824512-106824513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189038758	chr6:106824517-106824518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150780871	chr6:106824588-106824589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548119738	chr6:106824632-106824633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551404390	chr6:106824640-106824641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568070861	chr6:106824649-106824650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554147375	chr6:106824675-106824676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533931366	chr6:106824706-106824707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553584353	chr6:106824778-106824779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6900664	chr6:106824844-106824845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs539633224	chr6:106824867-106824868	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs556456224	chr6:106824868-106824869	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs3851213	chr6:106824890-106824891	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs541862838	chr6:106824903-106824904	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs55737357	chr6:106824941-106824942	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs528843846	chr6:106824960-106824961	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs572345891	chr6:106825052-106825053	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs34057171	chr6:106825055-106825056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs115449476	chr6:106825060-106825061	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564555972	chr6:106825084-106825085	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs57033687	chr6:106825167-106825168	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs139136377	chr6:106825177-106825178	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs552370324	chr6:106825192-106825193	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs149489688	chr6:106825242-106825243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs9373856	chr6:106825251-106825252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548180761	chr6:106825264-106825265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192619378	chr6:106825316-106825317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs17066932	chr6:106825321-106825322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201092166	chr6:106825490-106825491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs33973748	chr6:106825491-106825492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200141076	chr6:106825492-106825493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200500954	chr6:106825494-106825495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371402241	chr6:106825495-106825496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377422114	chr6:106825496-106825497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373644273	chr6:106825497-106825498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370423527	chr6:106825498-106825499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201465615	chr6:106825500-106825501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565647398	chr6:106825518-106825519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376256312	chr6:106825522-106825523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs56394821	chr6:106825523-106825524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570178062	chr6:106825534-106825535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563844848	chr6:106825794-106825795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539667012	chr6:106825797-106825798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182147832	chr6:106825862-106825863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Burkitt''s lymphoma	20823134	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
abnormal development	18461090	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106819400-106824800	Weak transcription	Hela-S3	cervix
2	chr6:106819400-106844400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:106820000-106824400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr6:106821800-106824400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:106821800-106824800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:106822000-106824400	Weak transcription	NHEK	skin
7	chr6:106822200-106829800	Weak transcription	Fetal Intestine Small	intestine
8	chr6:106823000-106826600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:106824000-106825400	Enhancers	Colon Smooth Muscle	Colon
10	chr6:106824200-106824600	Enhancers	Esophagus	oesophagus
11	chr6:106824200-106824800	Enhancers	HMEC	breast
12	chr6:106824200-106826400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:106824400-106824600	Enhancers	Pancreas	Pancrea
14	chr6:106824400-106824800	Enhancers	Rectal Smooth Muscle	rectum
15	chr6:106824400-106825000	Enhancers	NHEK	skin
16	chr6:106824400-106825200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:106824400-106826400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:106824600-106826000	Weak transcription	Pancreas	Pancrea
19	chr6:106824600-106826000	Enhancers	HUVEC	blood vessel
20	chr6:106824600-106829600	Weak transcription	Esophagus	oesophagus
21	chr6:106824800-106825000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:106824800-106825200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:106824800-106825200	Flanking Active TSS	HMEC	breast
24	chr6:106824800-106825200	Bivalent Enhancer	Osteobl	bone
25	chr6:106824800-106825400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:106824800-106826000	Enhancers	NH-A	brain
27	chr6:106824800-106826200	Enhancers	Hela-S3	cervix
28	chr6:106824800-106828200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:106825000-106825200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:106825000-106825200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr6:106825000-106825400	Flanking Active TSS	NHEK	skin
32	chr6:106825000-106826000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:106825200-106828000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:106825200-106828000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:106825200-106828000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:106825200-106831200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:106825200-106834400	Enhancers	HMEC	breast
38	chr6:106825400-106826200	Enhancers	NHEK	skin
39	chr6:106825400-106827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:106825400-106835200	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:106826000-106826400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:106826000-106826400	Enhancers	Pancreas	Pancrea
43	chr6:106826000-106829200	Weak transcription	NH-A	brain
44	chr6:106826200-106826400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:106826200-106826600	Genic enhancers	NHEK	skin
46	chr6:106826400-106827400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:106826400-106827600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:106826400-106828200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:106826400-106829800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:106826600-106827400	Weak transcription	NHEK	skin

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