Variant report

Variant	esv2759437
Chromosome Location	chr6:67664566-67688283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:67680520..67684153-chr6:67686504..67689501,3	MCF-7	breast:
2	chr6:67664280..67666953-chr6:67670600..67673248,2	MCF-7	breast:
3	chr6:67680520..67684153-chr6:67686504..67689501,3	MCF-7	breast:
4	chr4:106066864..106069364-chr6:67678829..67681478,2	MCF-7	breast:
5	chr6:67664280..67666953-chr6:67670600..67673248,2	MCF-7	breast:
6	chr6:67660837..67662514-chr6:67666593..67669025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168769	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:228 , 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	rs192759654	chr6:67671002-67671003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548833896	chr6:67671020-67671021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551127342	chr6:67671026-67671027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200744969	chr6:67671058-67671059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143199678	chr6:67671061-67671062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74278672	chr6:67671062-67671063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571133008	chr6:67671072-67671073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397769412	chr6:67671078-67671079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112420637	chr6:67671084-67671085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77888393	chr6:67671121-67671122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558111100	chr6:67671164-67671165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377649247	chr6:67671187-67671188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183590545	chr6:67671195-67671196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370890371	chr6:67671198-67671199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567293062	chr6:67671223-67671224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114111493	chr6:67671247-67671248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79843459	chr6:67671253-67671254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571858005	chr6:67671351-67671352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570327883	chr6:67671404-67671405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567135726	chr6:67671415-67671416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6933579	chr6:67671416-67671417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs559148201	chr6:67671420-67671421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs6912895	chr6:67671497-67671498	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs149548713	chr6:67671501-67671502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555043479	chr6:67671569-67671570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146028133	chr6:67671575-67671576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570832402	chr6:67671602-67671603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543786512	chr6:67671636-67671637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537891729	chr6:67671647-67671648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139937782	chr6:67671674-67671675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188526522	chr6:67671700-67671701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192475382	chr6:67671703-67671704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564700859	chr6:67671704-67671705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527476095	chr6:67671728-67671729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547324354	chr6:67671739-67671740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114240474	chr6:67671743-67671744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529766687	chr6:67671752-67671753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372735463	chr6:67671890-67671891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549719802	chr6:67671897-67671898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143353159	chr6:67671927-67671928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573280565	chr6:67671934-67671935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577894628	chr6:67671946-67671947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542240302	chr6:67671963-67671964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566421938	chr6:67671966-67671967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5877063	chr6:67671967-67671968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555809336	chr6:67671969-67671970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535198991	chr6:67672032-67672033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201537915	chr6:67672040-67672041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554900907	chr6:67672064-67672065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574842196	chr6:67672065-67672066	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:67671000-67672000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:67671000-67672000	Enhancers	NHEK	skin
3	chr6:67671600-67672200	Enhancers	HMEC	breast
4	chr6:67686200-67686400	Enhancers	Fetal Lung	lung
5	chr6:67686600-67687600	Weak transcription	Fetal Lung	lung
6	chr6:67687600-67688200	Enhancers	Fetal Lung	lung

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