Variant report

Variant	esv3408644
Chromosome Location	chr6:161168362-161172960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161170865..161172640-chr6:161793998..161795799,2	MCF-7	breast:
2	chr6:161171347..161171874-chr6:161413503..161414501,3	K562	blood:
3	chr6:161170784..161171753-chr6:161794646..161795782,4	MCF-7	breast:
4	chr6:161170972..161171781-chr6:161412957..161413893,2	MCF-7	breast:
5	chr6:161170261..161171981-chr6:161410808..161413803,2	K562	blood:
6	chr6:161171318..161172128-chr6:161791567..161792523,2	K562	blood:

Variant related genes	Relation type
ENSG00000272841	chromatin interactions
ENSG00000085511	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs572125605	chr6:161168369-161168370	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118180095	chr6:161168387-161168388	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59000538	chr6:161168397-161168398	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577720221	chr6:161168406-161168407	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543393731	chr6:161168419-161168420	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148644190	chr6:161168422-161168423	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528944918	chr6:161168439-161168440	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548785701	chr6:161168440-161168441	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11966390	chr6:161168452-161168453	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs528654929	chr6:161168473-161168474	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373376399	chr6:161168477-161168478	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142379250	chr6:161168478-161168479	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75324528	chr6:161168517-161168518	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367636884	chr6:161168547-161168548	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs783182	chr6:161168548-161168549	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536779610	chr6:161168555-161168556	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116300398	chr6:161168603-161168604	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs150955013	chr6:161168615-161168616	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565920901	chr6:161168630-161168631	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10625439	chr6:161168653-161168654	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386409148	chr6:161168654-161168655	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397751732	chr6:161168656-161168657	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs398094709	chr6:161168657-161168658	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201535647	chr6:161168668-161168669	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151302489	chr6:161168677-161168678	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141847071	chr6:161168685-161168686	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577977197	chr6:161168698-161168699	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573787871	chr6:161168704-161168705	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543063636	chr6:161168717-161168718	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556948590	chr6:161168744-161168745	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs783181	chr6:161168759-161168760	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs145712146	chr6:161168808-161168809	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78018708	chr6:161168810-161168811	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528666702	chr6:161168861-161168862	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192042188	chr6:161168915-161168916	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565253959	chr6:161168926-161168927	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28402939	chr6:161168949-161168950	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs783180	chr6:161168961-161168962	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs78754593	chr6:161168970-161168971	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528190153	chr6:161169054-161169055	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530031574	chr6:161169055-161169056	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569706339	chr6:161169060-161169061	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538269778	chr6:161169064-161169065	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558618114	chr6:161169067-161169068	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181765118	chr6:161169073-161169074	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147661635	chr6:161169096-161169097	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534541861	chr6:161169104-161169105	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142361332	chr6:161169140-161169141	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556969863	chr6:161169165-161169166	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150196478	chr6:161169194-161169195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161140800-161175200	Strong transcription	Liver	Liver
2	chr6:161169600-161181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161170200-161170800	ZNF genes & repeats	Fetal Kidney	kidney
4	chr6:161170400-161170800	Active TSS	Spleen	Spleen
5	chr6:161170400-161171000	ZNF genes & repeats	Pancreas	Pancrea
6	chr6:161170800-161171800	Enhancers	GM12878-XiMat	blood
7	chr6:161170800-161174400	Weak transcription	Fetal Kidney	kidney
8	chr6:161171000-161171200	Weak transcription	Pancreas	Pancrea
9	chr6:161171200-161171400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:161171200-161171400	Enhancers	Pancreas	Pancrea
11	chr6:161171400-161171600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr6:161171400-161171600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:161171400-161171600	Enhancers	Spleen	Spleen
14	chr6:161171400-161171800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:161171400-161171800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr6:161171400-161171800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:161171400-161171800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:161171400-161171800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:161171400-161172000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:161171400-161187800	Weak transcription	Pancreas	Pancrea
21	chr6:161171600-161171800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:161171600-161171800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr6:161171600-161171800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:161171800-161172000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr6:161171800-161176400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:161171800-161176400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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