Variant report

Variant	esv3310945
Chromosome Location	chr15:79036897-79041395
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	CHD2	chr15:79040115-79040485	K562	blood:	n/a	n/a
2	CTCF	chr15:79038837-79038942	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr15:79036779-79036920	MCF-7	breast:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
4	CTCF	chr15:79036771-79036925	H1-hESC	embryonic stem cell:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
5	CTCF	chr15:79036816-79036927	Medullo	brain:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
6	CTCF	chr15:79036824-79036927	GM19239	blood:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
7	CTCF	chr15:79036792-79036916	MCF-7	breast:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
8	CTCF	chr15:79039541-79039584	GM20000	blood:	n/a	n/a
9	CTCF	chr15:79037224-79037261	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr15:79036814-79036919	GM12892	blood:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
11	CTCF	chr15:79036786-79036931	HepG2	liver:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
12	CTCF	chr15:79036727-79036938	A549	lung:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
13	CTCF	chr15:79036849-79036906	K562	blood:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
14	CTCF	chr15:79036809-79036926	GM19238	blood:	n/a	chr15:79036853-79036869 chr15:79036855-79036863 chr15:79036852-79036870 chr15:79036854-79036875
15	ETS1	chr15:79040129-79040351	GM12878	blood:	n/a	n/a
16	GABPA	chr15:79039546-79039780	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr15:79039675-79039806	Hela-S3	cervix:	n/a	n/a
18	HEY1	chr15:79039708-79040072	K562	blood:	n/a	n/a
19	MAX	chr15:79040208-79040502	K562	blood:	n/a	n/a
20	MAX	chr15:79040283-79040560	K562	blood:	n/a	n/a
21	MYC	chr15:79040184-79040507	K562	blood:	n/a	n/a
22	MYC	chr15:79038633-79038773	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr15:79038409-79038411	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:79038440-79038576	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:79039707-79039993	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:79040018-79040142	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:79038316-79038371	GM12878	blood:	n/a	n/a
28	POU2F2	chr15:79039575-79039942	GM12878	blood:	n/a	chr15:79039915-79039928
29	REST	chr15:79038195-79038682	SK-N-SH	brain:	n/a	n/a
30	ZBTB33	chr15:79040128-79040305	HepG2	liver:	n/a	n/a
31	ZBTB33	chr15:79040077-79040417	GM12878	blood:	n/a	n/a
32	ZBTB33	chr15:79039991-79040498	K562	blood:	n/a	n/a
33	ZBTB33	chr15:79040053-79040440	K562	blood:	n/a	n/a
34	ZBTB33	chr15:79039706-79040163	HepG2	liver:	n/a	n/a
35	ZBTB33	chr15:79039637-79039946	K562	blood:	n/a	n/a
36	ZBTB33	chr15:79040070-79040375	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79040825-79040875	ovcar-3	ovarian:	n/a
2	chr15:79040825-79040875	PANC-1	pancreas:	n/a
3	chr15:79040825-79040875	HRPEpiC	eye:	n/a
4	chr15:79040825-79040875	LNCaP	prostate:	n/a
5	chr15:79040825-79040875	BE2_C	brain:	n/a
6	chr15:79040825-79040875	HMEC	breast:	n/a
7	chr15:79040825-79040875	GM12891	blood:	n/a
8	chr15:79040825-79040875	GM06990	blood:	n/a
9	chr15:79040825-79040875	AG04449	skin:	fetal
10	chr15:79040825-79040875	HCM	heart:	n/a
11	chr15:79040825-79040875	SK-N-SH	brain:	n/a
12	chr15:79040825-79040875	NH-A	brain:	n/a
13	chr15:79040825-79040875	CMK	blood:	n/a
14	chr15:79040825-79040875	NHBE	bronchial:	n/a
15	chr15:79040825-79040875	RPTEC	kidney:	n/a
16	chr15:79040825-79040875	NB4	blood:	n/a
17	chr15:79040825-79040875	HL-60	blood:	n/a
18	chr15:79040825-79040875	SK-N-MC	brain:	n/a
19	chr15:79040825-79040875	Hela-S3	cervix:	n/a
20	chr15:79040825-79040875	PFSK-1	brain:	n/a
21	chr15:79040825-79040875	NT2-D1	testis:	n/a
22	chr15:79040825-79040875	A549	lung:	n/a
23	chr15:79040825-79040875	AG10803	skin:	n/a
24	chr15:79040825-79040875	HIPEpiC	eye:	n/a
25	chr15:79040825-79040875	MCF10A-Er-Src	breast:	n/a
26	chr15:79040825-79040875	AoSMC	blood vessel:	n/a
27	chr15:79040825-79040875	AG09309	skin:	n/a
28	chr15:79040825-79040875	U87	brain:	n/a
29	chr15:79040825-79040875	K562	blood:	n/a
30	chr15:79040825-79040875	Caco-2	colon:	n/a
31	chr15:79040825-79040875	HEK293	kidney:	embryo
32	chr15:79040825-79040875	HRE	kidney:	n/a
33	chr15:79040825-79040875	Hepatocyte	liver:	n/a
34	chr15:79040825-79040875	GM12892	blood:	n/a
35	chr15:79040825-79040875	SAEC	small airway:	n/a
36	chr15:79040825-79040875	HCF	heart:	n/a
37	chr15:79040825-79040875	ProgFib	skin:	n/a
38	chr15:79040825-79040875	PrEC	prostate:	n/a
39	chr15:79040825-79040875	HEEpiC	esophagus:	n/a
40	chr15:79040825-79040875	ECC-1	luminal epithelium:	n/a
41	chr15:79040825-79040875	BJ	skin:	n/a
42	chr15:79040825-79040875	HRCEpiC	kidney:	n/a
43	chr15:79040825-79040875	HCPEpiC	choroid plexus:	n/a
44	chr15:79040825-79040875	AG09319	gingival:	n/a
45	chr15:79040825-79040875	AG04450	lung:	fetal
46	chr15:79040825-79040875	GM12878	blood:	n/a
47	chr15:79040825-79040875	GM19239	blood:	n/a
48	chr15:79040825-79040875	NHDF-neo	bronchial:	n/a
49	chr15:79040825-79040875	MCF-7	breast:	n/a
50	chr15:79040825-79040875	HepG2	liver:	n/a

Variant related genes	Relation type
ENSG00000238166	TF binding region
ENSG00000238166	CpG island

Extended variants
information (count: 182 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:182 , 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	rs188916384	chr15:79036987-79036988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs55969641	chr15:79037047-79037048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2589357	chr15:79037066-79037067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367725585	chr15:79037118-79037119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554017572	chr15:79037139-79037140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2622814	chr15:79037144-79037145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572477918	chr15:79037439-79037440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543078452	chr15:79037619-79037620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555018065	chr15:79037630-79037631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576476071	chr15:79037652-79037653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74514832	chr15:79037664-79037665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74714970	chr15:79037685-79037686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74828888	chr15:79037699-79037700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565148086	chr15:79037822-79037823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532248803	chr15:79037898-79037899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541218471	chr15:79038015-79038016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1809418	chr15:79038058-79038059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559212152	chr15:79038115-79038116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200372104	chr15:79038164-79038165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529784188	chr15:79038213-79038214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547848877	chr15:79038374-79038375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537755618	chr15:79038390-79038391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201488038	chr15:79038466-79038467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530381503	chr15:79038469-79038470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550098797	chr15:79038503-79038504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145220387	chr15:79038504-79038505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150784193	chr15:79038508-79038509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140677104	chr15:79038511-79038512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71404737	chr15:79038532-79038533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150088946	chr15:79038588-79038589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370013311	chr15:79038651-79038652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555052863	chr15:79038664-79038665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576516130	chr15:79038676-79038677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565071451	chr15:79038698-79038699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543831080	chr15:79038725-79038726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558625852	chr15:79038751-79038752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577045416	chr15:79038852-79038853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2622816	chr15:79038904-79038905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540905260	chr15:79038914-79038915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188560942	chr15:79038971-79038972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559518243	chr15:79039015-79039016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144745197	chr15:79039027-79039028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191269970	chr15:79039051-79039052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185087627	chr15:79039143-79039144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79056944	chr15:79039162-79039163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187179428	chr15:79039166-79039167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530469358	chr15:79039204-79039205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551731237	chr15:79039208-79039209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12592744	chr15:79039237-79039238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556918800	chr15:79039242-79039243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79033000-79045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79033400-79040400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:79040400-79040600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:79040400-79043000	Weak transcription	Right Atrium	heart
5	chr15:79040600-79043000	Weak transcription	Esophagus	oesophagus
6	chr15:79040600-79060000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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