Variant report

Variant	esv3403841
Chromosome Location	chr14:41984880-41990751
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	chr1:167600671..167603478-chr14:41990511..41992655,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-4	chr14:41989726-41989971	NONHSAT036571

Extended variants
information (count: 300 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:300 , 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	rs562760389	chr14:41984891-41984892	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530497115	chr14:41984897-41984898	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557611311	chr14:41984899-41984900	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548673409	chr14:41984967-41984968	Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567113755	chr14:41985013-41985014	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528081934	chr14:41985049-41985050	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79050046	chr14:41985061-41985062	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61640884	chr14:41985098-41985099	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs67769446	chr14:41985099-41985100	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375163745	chr14:41985134-41985135	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546494055	chr14:41985135-41985136	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571496820	chr14:41985179-41985180	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538590873	chr14:41985184-41985185	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557165007	chr14:41985198-41985199	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558241126	chr14:41985214-41985215	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572075586	chr14:41985231-41985232	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541085902	chr14:41985238-41985239	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536702701	chr14:41985240-41985241	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs372496495	chr14:41985298-41985299	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs555089721	chr14:41985301-41985302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs55956368	chr14:41985332-41985333	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188651484	chr14:41985397-41985398	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540597303	chr14:41985426-41985427	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs558712929	chr14:41985445-41985446	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374192537	chr14:41985467-41985468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577430000	chr14:41985509-41985510	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143893748	chr14:41985511-41985512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150639195	chr14:41985515-41985516	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111383575	chr14:41985518-41985519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs149995422	chr14:41985545-41985546	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs146731393	chr14:41985546-41985547	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs528204171	chr14:41985581-41985582	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546559662	chr14:41985587-41985588	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564743918	chr14:41985599-41985600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs532401439	chr14:41985611-41985612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560556953	chr14:41985613-41985614	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550903018	chr14:41985627-41985628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183081504	chr14:41985629-41985630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs144181397	chr14:41985661-41985662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548110470	chr14:41985663-41985664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs566938807	chr14:41985670-41985671	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139954254	chr14:41985683-41985684	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558886199	chr14:41985701-41985702	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376679321	chr14:41985823-41985824	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs188115753	chr14:41985832-41985833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556431900	chr14:41985833-41985834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143190811	chr14:41985845-41985846	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541998327	chr14:41985887-41985888	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs560556824	chr14:41985912-41985913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532271434	chr14:41985933-41985934	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41984200-41988000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr14:41984600-41990000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:41984800-41985000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:41984800-41985200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:41985000-41987800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr14:41985200-41985600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr14:41985400-41985800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr14:41987600-41988000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:41987600-41988200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:41987800-41988600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:41988000-41990200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
12	chr14:41988000-41991000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:41988200-41989200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:41988600-41990000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:41989200-41989600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr14:41990000-41991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:41990000-41991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:41990200-41990400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:41990400-41990800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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