Variant report

Variant	esv3394728
Chromosome Location	chr15:50707960-50712658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:50710290-50710612	K562	blood:	n/a	n/a
2	ATF3	chr15:50710267-50710672	K562	blood:	n/a	n/a
3	BHLHE40	chr15:50710422-50710622	K562	blood:	n/a	n/a
4	CEBPB	chr15:50710304-50710678	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:50710297-50710639	K562	blood:	n/a	n/a
6	CEBPB	chr15:50710286-50710663	HepG2	liver:	n/a	n/a
7	CEBPB	chr15:50710441-50710528	IMR90	lung:	n/a	n/a
8	CEBPB	chr15:50710268-50710678	K562	blood:	n/a	n/a
9	CEBPB	chr15:50710389-50710549	A549	lung:	n/a	n/a
10	CTCF	chr15:50709685-50709733	Fibrobl	skin:	n/a	n/a
11	CTCF	chr15:50709737-50709750	Fibrobl	skin:	n/a	n/a
12	CUX1	chr15:50710453-50710654	K562	blood:	n/a	n/a
13	E2F6	chr15:50708312-50708738	H1-hESC	embryonic stem cell:	n/a	n/a
14	EP300	chr15:50710401-50710630	Hela-S3	cervix:	n/a	n/a
15	EP300	chr15:50710334-50710643	K562	blood:	n/a	n/a
16	FOXA1	chr15:50708058-50708520	HepG2	liver:	n/a	n/a
17	FOXA2	chr15:50708071-50708462	HepG2	liver:	n/a	n/a
18	HCFC1	chr15:50708124-50708461	K562	blood:	n/a	n/a
19	JUN	chr15:50710289-50710518	K562	blood:	n/a	n/a
20	JUN	chr15:50709861-50711380	K562	blood:	n/a	chr15:50709990-50710001 chr15:50710974-50710983 chr15:50710084-50710093
21	JUND	chr15:50710236-50710822	K562	blood:	n/a	n/a
22	JUND	chr15:50710343-50710559	HepG2	liver:	n/a	n/a
23	MAX	chr15:50710354-50710652	K562	blood:	n/a	n/a
24	MAZ	chr15:50710394-50710658	K562	blood:	n/a	n/a
25	MXI1	chr15:50708222-50708534	HepG2	liver:	n/a	n/a
26	MYC	chr15:50708286-50708422	K562	blood:	n/a	n/a
27	MYC	chr15:50710440-50710737	K562	blood:	n/a	n/a
28	NFYA	chr15:50708368-50708565	Hela-S3	cervix:	n/a	n/a
29	NFYA	chr15:50708313-50708532	K562	blood:	n/a	n/a
30	NFYB	chr15:50708328-50708571	GM12878	blood:	n/a	n/a
31	NFYB	chr15:50708252-50708575	K562	blood:	n/a	n/a
32	POLR2A	chr15:50710391-50710395	MCF-7	breast:	n/a	n/a
33	POLR2A	chr15:50708726-50709090	SK-N-MC	brain:	n/a	n/a
34	POLR2A	chr15:50710369-50710370	Gliobla	brain:	n/a	n/a
35	POLR2A	chr15:50710398-50710404	A549	lung:	n/a	n/a
36	POLR2A	chr15:50710212-50710386	MCF-7	breast:	n/a	n/a
37	POLR2A	chr15:50710342-50710391	A549	lung:	n/a	n/a
38	POLR2A	chr15:50710329-50710330	A549	lung:	n/a	n/a
39	POLR2A	chr15:50709713-50709743	MCF-7	breast:	n/a	n/a
40	POLR2A	chr15:50710337-50710382	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:50710380-50710488	Gliobla	brain:	n/a	n/a
42	RCOR1	chr15:50710462-50710705	HepG2	liver:	n/a	n/a
43	RCOR1	chr15:50710281-50710747	K562	blood:	n/a	n/a
44	REST	chr15:50710290-50710399	K562	blood:	n/a	chr15:50710355-50710375 chr15:50710361-50710370
45	REST	chr15:50710279-50710435	PFSK-1	brain:	n/a	chr15:50710355-50710375 chr15:50710361-50710370
46	REST	chr15:50709630-50709881	K562	blood:	n/a	chr15:50709778-50709798 chr15:50709784-50709798 chr15:50709786-50709796
47	REST	chr15:50710186-50710503	PFSK-1	brain:	n/a	chr15:50710355-50710375 chr15:50710361-50710370
48	REST	chr15:50710108-50710529	U87	brain:	n/a	chr15:50710355-50710375 chr15:50710361-50710370
49	REST	chr15:50710134-50710530	PFSK-1	brain:	n/a	chr15:50710355-50710375 chr15:50710361-50710370
50	REST	chr15:50710218-50710529	U87	brain:	n/a	chr15:50710355-50710375 chr15:50710361-50710370

No.	Distal block	Cell Line	Cell type
1	chr15:50664439..50666411-chr15:50707371..50708947,2	MCF-7	breast:
2	chr15:50694450..50696893-chr15:50706359..50708089,2	MCF-7	breast:
3	chr15:50708008..50710439-chr15:50710908..50713788,3	MCF-7	breast:
4	chr15:50702280..50703814-chr15:50705752..50708045,2	K562	blood:
5	chr15:50647220..50649637-chr15:50708002..50709799,2	K562	blood:
6	chr15:50646196..50649637-chr15:50705519..50710625,4	K562	blood:
7	chr15:50693897..50696676-chr15:50706925..50708431,2	MCF-7	breast:
8	chr15:50647163..50649970-chr15:50707470..50713022,5	MCF-7	breast:
9	chr15:50696757..50701800-chr15:50711495..50716438,5	K562	blood:
10	chr15:50644593..50647982-chr15:50708471..50714039,7	MCF-7	breast:
11	chr15:50712380..50714768-chr15:50789507..50791340,2	MCF-7	breast:

Variant related genes	Relation type
AHCYP7	TF binding region
USP8	TF binding region
ENSG00000259465	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000259298	chromatin interactions
ENSG00000138592	chromatin interactions
ENSG00000104064	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs7181529	chr15:50707962-50707963	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72263779	chr15:50708074-50708075	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs55721855	chr15:50708089-50708090	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs549941366	chr15:50708100-50708101	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs191816525	chr15:50708107-50708108	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs575758596	chr15:50708116-50708117	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs550619083	chr15:50708168-50708169	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs184151731	chr15:50708169-50708170	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs564634478	chr15:50708180-50708181	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs12898201	chr15:50708193-50708194	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs528802497	chr15:50708219-50708220	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs540898561	chr15:50708259-50708260	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs61021707	chr15:50708266-50708267	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145918653	chr15:50708315-50708316	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs71940259	chr15:50708316-50708317	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs56286419	chr15:50708349-50708350	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs561562214	chr15:50708358-50708359	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs139494674	chr15:50708395-50708396	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs28410726	chr15:50708396-50708397	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs186586283	chr15:50708397-50708398	Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs555013831	chr15:50708431-50708432	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs112902133	chr15:50708433-50708434	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs539469279	chr15:50708465-50708466	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs537596955	chr15:50708479-50708480	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs551178772	chr15:50708504-50708505	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566304723	chr15:50708507-50708508	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189861177	chr15:50708523-50708524	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs533873223	chr15:50708560-50708561	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs139584264	chr15:50708567-50708568	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369700360	chr15:50708570-50708571	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs5812514	chr15:50708571-50708572	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs398043280	chr15:50708590-50708591	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs117842600	chr15:50708623-50708624	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs182504720	chr15:50708687-50708688	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187185708	chr15:50708713-50708714	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs535157299	chr15:50708718-50708719	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs557349115	chr15:50708719-50708720	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs201704145	chr15:50708735-50708736	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs577652415	chr15:50708897-50708898	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs575821717	chr15:50708938-50708939	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs555360825	chr15:50708971-50708972	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539911175	chr15:50708974-50708975	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558410912	chr15:50709015-50709016	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573368885	chr15:50709025-50709026	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540610189	chr15:50709029-50709030	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs74012401	chr15:50709037-50709038	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs115089418	chr15:50709055-50709056	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571973136	chr15:50709060-50709061	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs55931323	chr15:50709061-50709062	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs397823935	chr15:50709071-50709072	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50698200-50715800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:50704400-50710400	Weak transcription	K562	blood
3	chr15:50708000-50708200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:50708000-50708400	Enhancers	Hela-S3	cervix
5	chr15:50708000-50708800	Enhancers	HepG2	liver
6	chr15:50708200-50708400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr15:50708800-50710600	Weak transcription	HepG2	liver
8	chr15:50709400-50709800	Weak transcription	Esophagus	oesophagus
9	chr15:50709400-50709800	Enhancers	Spleen	Spleen
10	chr15:50709600-50709800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:50709600-50709800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:50709800-50710000	Enhancers	Esophagus	oesophagus
13	chr15:50709800-50715800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:50710000-50715800	Weak transcription	Esophagus	oesophagus
15	chr15:50710400-50711000	Enhancers	K562	blood
16	chr15:50710400-50716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:50710600-50711200	Enhancers	HepG2	liver
18	chr15:50710800-50711000	Enhancers	Pancreas	Pancrea
19	chr15:50711000-50715600	Weak transcription	Pancreas	Pancrea
20	chr15:50711000-50715600	Weak transcription	K562	blood
21	chr15:50711200-50714400	Weak transcription	HepG2	liver

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