Variant report

Variant	esv2523270
Chromosome Location	chr15:76335877-76347197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:76346640-76346800	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:76343177-76343210	HepG2	liver:	n/a	chr15:76343194-76343205
3	CEBPB	chr15:76343170-76343260	K562	blood:	n/a	chr15:76343194-76343205
4	CTCF	chr15:76342899-76342971	GM10248	blood:	n/a	n/a
5	CTCF	chr15:76343226-76343274	Fibrobl	skin:	n/a	n/a
6	CTCF	chr15:76338509-76338581	LNCaP	prostate:	n/a	n/a
7	E2F4	chr15:76346578-76346778	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr15:76346610-76346819	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr15:76346558-76346834	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr15:76346563-76346903	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr15:76346553-76346835	MCF10A-Er-Src	breast:	n/a	n/a
12	FOSL2	chr15:76346532-76346865	HepG2	liver:	n/a	n/a
13	JUND	chr15:76346595-76346747	K562	blood:	n/a	n/a
14	JUND	chr15:76346556-76346842	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:76338646-76338718	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:76346487-76346515	MCF-7	breast:	n/a	n/a
17	POLR2A	chr15:76341185-76341340	A549	lung:	n/a	n/a
18	POLR2A	chr15:76342505-76342513	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:76344247-76344389	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr15:76341299-76341437	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:76346488-76346526	MCF-7	breast:	n/a	n/a
22	POLR2A	chr15:76342612-76342771	MCF10A-Er-Src	breast:	n/a	n/a
23	RCOR1	chr15:76346635-76346737	Hela-S3	cervix:	n/a	n/a
24	RPC155	chr15:76346384-76346919	Hela-S3	cervix:	n/a	n/a
25	SETDB1	chr15:76346612-76346996	U2OS	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76341281..76343239-chr15:76349906..76351616,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ETFA-2	chr15:76345279-76345324	NONHSAT047391
2	lnc-ETFA-2	chr15:76344439-76344518	NONHSAT047391
3	lnc-ETFA-2	chr15:76345580-76345710	NONHSAT047391
4	lnc-ETFA-3	chr15:76336914-76337140	l_1192_chr15:76333969-76337140_testes

No data

Variant related genes	Relation type
C15orf27	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs168029	chr15:76336942-76336943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs190320951	chr15:76336992-76336993	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs571949445	chr15:76336993-76336994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs530569787	chr15:76337004-76337005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545877502	chr15:76337009-76337010	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs540785343	chr15:76337033-76337034	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557394024	chr15:76345302-76345303	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs114139605	chr15:76345600-76345601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs547000239	chr15:76345601-76345602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs528068563	chr15:76345677-76345678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs190260221	chr15:76346258-76346259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548410628	chr15:76346279-76346280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191463033	chr15:76346287-76346288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570190633	chr15:76346318-76346319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150310175	chr15:76346319-76346320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552844313	chr15:76346379-76346380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571016407	chr15:76346391-76346392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137932312	chr15:76346453-76346454	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs369089679	chr15:76346521-76346522	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185368963	chr15:76346576-76346577	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs574363467	chr15:76346618-76346619	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535466054	chr15:76346674-76346675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113628231	chr15:76346679-76346680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145970855	chr15:76346700-76346701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545488163	chr15:76346727-76346728	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563950988	chr15:76346761-76346762	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572656451	chr15:76346785-76346786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs535702509	chr15:76346819-76346820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs557564907	chr15:76346835-76346836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs565784686	chr15:76346850-76346851	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs376196902	chr15:76346858-76346859	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561983171	chr15:76346872-76346873	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs386785470	chr15:76346875-76346876	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548609206	chr15:76346912-76346913	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534691258	chr15:76346913-76346914	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs28841403	chr15:76346914-76346915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189233627	chr15:76346952-76346953	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192880680	chr15:76346963-76346964	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549964662	chr15:76347010-76347011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112767483	chr15:76347077-76347078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535181190	chr15:76347086-76347087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185434519	chr15:76347132-76347133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149301805	chr15:76347134-76347135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144594520	chr15:76347151-76347152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559563052	chr15:76347159-76347160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80297148	chr15:76347189-76347190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148489004	chr15:76347196-76347197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76346200-76346400	Enhancers	Hela-S3	cervix
2	chr15:76346400-76346600	Flanking Active TSS	Hela-S3	cervix
3	chr15:76346600-76347000	Active TSS	Hela-S3	cervix
4	chr15:76347000-76349000	Weak transcription	Hela-S3	cervix

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