Variant report

Variant	esv3516158
Chromosome Location	chr6:101379381-101386279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:100557223..100558887-chr6:101377861..101380025,2	K562	blood:
2	chr6:101328441..101330264-chr6:101378737..101381501,2	MCF-7	breast:
3	chr6:101379567..101381723-chr6:101382355..101385002,3	K562	blood:
4	chr6:101379567..101381723-chr6:101382355..101385002,3	K562	blood:

Variant related genes	Relation type
ENSG00000112249	chromatin interactions
ENSG00000260000	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573420165	chr6:101379386-101379387	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs540549625	chr6:101379421-101379422	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536361184	chr6:101379459-101379460	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs60295543	chr6:101379514-101379515	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576897440	chr6:101379518-101379519	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs553288331	chr6:101379575-101379576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9485426	chr6:101379578-101379579	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141779940	chr6:101379584-101379585	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572564049	chr6:101379626-101379627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145948813	chr6:101379636-101379637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs657915	chr6:101379666-101379667	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185279940	chr6:101379742-101379743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs527507238	chr6:101379890-101379891	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189105167	chr6:101379896-101379897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570425546	chr6:101379905-101379906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575566197	chr6:101379978-101379979	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs374839160	chr6:101379984-101379985	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs138512806	chr6:101380019-101380020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs596601	chr6:101380020-101380021	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568976077	chr6:101380057-101380058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs61175673	chr6:101380072-101380073	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555074835	chr6:101380093-101380094	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181150194	chr6:101380103-101380104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs185596160	chr6:101380119-101380120	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs141651550	chr6:101380160-101380161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs146201697	chr6:101380172-101380173	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35085017	chr6:101380229-101380230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12174636	chr6:101380233-101380234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116526614	chr6:101380234-101380235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs398085168	chr6:101380238-101380239	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs397886012	chr6:101380239-101380240	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562481454	chr6:101380241-101380242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560145185	chr6:101380272-101380273	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs116989899	chr6:101380317-101380318	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140132957	chr6:101380443-101380444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527455431	chr6:101380529-101380530	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs190192170	chr6:101380571-101380572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs74880748	chr6:101380572-101380573	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531517687	chr6:101380669-101380670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377212229	chr6:101380694-101380695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs7739574	chr6:101380707-101380708	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531538751	chr6:101380723-101380724	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs149838177	chr6:101380745-101380746	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144782240	chr6:101380782-101380783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs180738480	chr6:101380794-101380795	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7738575	chr6:101380833-101380834	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534086270	chr6:101380849-101380850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs559216750	chr6:101380865-101380866	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571122483	chr6:101380873-101380874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538521252	chr6:101380874-101380875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
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
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101374600-101398000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:101381000-101381200	ZNF genes & repeats	Aorta	Aorta
3	chr6:101385600-101385800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:101385800-101386200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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