Variant report

Variant	esv13776
Chromosome Location	chr6:147324012-147334530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147331729..147335906-chr6:147523198..147526603,4	MCF-7	breast:
2	chr6:147316757..147318385-chr6:147332392..147334165,2	K562	blood:
3	chr6:147205157..147208020-chr6:147323168..147325113,2	K562	blood:
4	chr6:147293968..147295714-chr6:147325806..147327484,2	K562	blood:
5	chr6:147320581..147322158-chr6:147325535..147327039,2	K562	blood:
6	chr6:147333617..147335216-chr6:147343494..147346443,2	K562	blood:
7	chr6:147321773..147324598-chr6:147327146..147330616,3	K562	blood:
8	chr6:147299417..147300923-chr6:147323838..147325399,2	K562	blood:
9	chr6:147321773..147324598-chr6:147327146..147330616,3	K562	blood:
10	chr6:147333917..147336558-chr6:147336933..147338920,2	K562	blood:
11	chr6:147325336..147328216-chr6:147335530..147337626,2	K562	blood:
12	chr6:147330682..147333739-chr6:147335579..147339284,4	K562	blood:
13	chr6:147318279..147319788-chr6:147321898..147324493,2	MCF-7	breast:
14	chr6:147315835..147318626-chr6:147323386..147326215,2	K562	blood:
15	chr6:147332989..147336687-chr6:147339701..147343537,4	K562	blood:
16	chr6:147312774..147316690-chr6:147332385..147335094,3	K562	blood:
17	chr6:147325631..147328847-chr6:147329351..147332016,3	K562	blood:
18	chr6:147321773..147324598-chr6:147327146..147330616,4	K562	blood:
19	chr6:147325631..147328847-chr6:147329351..147332016,3	K562	blood:
20	chr6:147220668..147222971-chr6:147322912..147325249,2	K562	blood:
21	chr6:147321773..147324598-chr6:147327146..147330616,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233452	chromatin interactions
ENSG00000164506	chromatin interactions

Extended variants
information (count: 182 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs77684977	chr6:147324144-147324145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565089826	chr6:147324165-147324166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138241996	chr6:147324178-147324179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371172103	chr6:147324195-147324196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182776128	chr6:147324212-147324213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549019812	chr6:147324215-147324216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78071779	chr6:147324277-147324278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569325012	chr6:147324298-147324299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149562069	chr6:147324326-147324327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368583744	chr6:147324345-147324346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568971386	chr6:147324359-147324360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112753987	chr6:147324362-147324363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187943023	chr6:147324420-147324421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73786857	chr6:147324455-147324456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369094312	chr6:147324464-147324465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142857258	chr6:147324545-147324546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77411198	chr6:147324550-147324551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576193070	chr6:147324552-147324553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76166952	chr6:147324638-147324639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192187509	chr6:147324671-147324672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536034623	chr6:147324686-147324687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555891366	chr6:147324705-147324706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559994684	chr6:147324742-147324743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185039759	chr6:147324756-147324757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372551543	chr6:147324785-147324786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189389058	chr6:147324842-147324843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115613334	chr6:147324847-147324848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192343118	chr6:147324879-147324880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115293530	chr6:147324920-147324921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77483194	chr6:147324931-147324932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7765767	chr6:147324938-147324939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189839247	chr6:147324942-147324943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563832585	chr6:147324953-147324954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181386190	chr6:147324956-147324957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551163679	chr6:147325002-147325003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571349171	chr6:147325037-147325038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376094445	chr6:147325088-147325089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571573152	chr6:147325106-147325107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77641802	chr6:147325141-147325142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79345463	chr6:147325151-147325152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539709225	chr6:147325208-147325209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566923492	chr6:147325223-147325224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536099525	chr6:147325266-147325267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186241345	chr6:147325306-147325307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77287605	chr6:147325335-147325336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566864803	chr6:147325361-147325362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74904703	chr6:147325384-147325385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572540956	chr6:147325392-147325393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541064811	chr6:147325426-147325427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201592637	chr6:147325454-147325455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	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
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147322000-147325000	Weak transcription	Psoas Muscle	Psoas
2	chr6:147322600-147326400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr6:147322800-147324200	Weak transcription	HSMMtube	muscle
4	chr6:147323200-147324200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:147323200-147325000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:147324400-147324600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:147324400-147324600	Enhancers	HSMMtube	muscle
8	chr6:147333800-147334400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:147334200-147334400	Enhancers	HSMM	muscle
10	chr6:147334400-147335400	Weak transcription	HSMM	muscle
11	chr6:147334400-147335600	Weak transcription	Muscle Satellite Cultured Cells	--

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