Variant report

Variant	nsv9281
Chromosome Location	chr15:78213140-78225495
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:88)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:88 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:78219190-78219467	K562	blood:	n/a	n/a
2	FOSL2	chr15:78220476-78220723	HepG2	liver:	n/a	n/a
3	FOSL2	chr15:78223003-78223669	HepG2	liver:	n/a	n/a
4	FOSL2	chr15:78218205-78218881	HepG2	liver:	n/a	chr15:78218498-78218507
5	FOXA1	chr15:78223233-78223889	HepG2	liver:	n/a	chr15:78223751-78223763
6	FOXP2	chr15:78223303-78223624	SK-N-MC	brain:	n/a	n/a
7	GABPA	chr15:78223355-78223624	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr15:78214618-78214930	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr15:78216348-78216494	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr15:78213306-78213765	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr15:78221708-78221823	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr15:78214942-78215274	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr15:78225384-78225485	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr15:78225405-78225671	Hela-S3	cervix:	n/a	n/a
15	GATA2	chr15:78222924-78223280	K562	blood:	n/a	chr15:78223080-78223092 chr15:78223199-78223206
16	HEY1	chr15:78219025-78219245	HepG2	liver:	n/a	n/a
17	IRF1	chr15:78219207-78219482	K562	blood:	n/a	chr15:78219380-78219394 chr15:78219401-78219415 chr15:78219295-78219309 chr15:78219308-78219322
18	JUN	chr15:78219246-78219519	K562	blood:	n/a	chr15:78219347-78219356 chr15:78219276-78219285
19	JUND	chr15:78223475-78223655	HepG2	liver:	n/a	n/a
20	JUND	chr15:78219241-78219488	K562	blood:	n/a	chr15:78219347-78219356 chr15:78219276-78219285
21	JUND	chr15:78223408-78223690	HepG2	liver:	n/a	n/a
22	MAX	chr15:78219167-78219470	K562	blood:	n/a	n/a
23	MAX	chr15:78219105-78219392	K562	blood:	n/a	n/a
24	MAZ	chr15:78219248-78219450	K562	blood:	n/a	n/a
25	MYC	chr15:78224658-78224774	HUVEC	blood vessel:	n/a	n/a
26	MYC	chr15:78219264-78219478	K562	blood:	n/a	n/a
27	PAX5	chr15:78219065-78219338	GM12878	blood:	n/a	chr15:78219302-78219321
28	PAX5	chr15:78218116-78218491	GM12878	blood:	n/a	n/a
29	PAX5	chr15:78219022-78219452	GM12878	blood:	n/a	chr15:78219302-78219321
30	PAX5	chr15:78218172-78218391	GM12878	blood:	n/a	n/a
31	PBX3	chr15:78225475-78225600	GM12878	blood:	n/a	n/a
32	POLR2A	chr15:78221519-78221520	HepG2	liver:	n/a	n/a
33	POLR2A	chr15:78218000-78218070	K562	blood:	n/a	n/a
34	POLR2A	chr15:78222711-78223725	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr15:78219076-78219348	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr15:78218092-78219493	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:78220440-78220619	K562	blood:	n/a	n/a
38	POLR2A	chr15:78218165-78218844	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:78219866-78220064	K562	blood:	n/a	n/a
40	POLR2A	chr15:78216772-78217006	K562	blood:	n/a	n/a
41	POLR2A	chr15:78216480-78216516	K562	blood:	n/a	n/a
42	POLR2A	chr15:78221318-78221550	K562	blood:	n/a	n/a
43	POLR2A	chr15:78219058-78219344	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:78221545-78221563	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:78219018-78219311	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr15:78218968-78219372	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr15:78214775-78214960	K562	blood:	n/a	n/a
48	POLR2A	chr15:78213960-78214173	K562	blood:	n/a	n/a
49	POLR2A	chr15:78218940-78219343	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:78223124-78223604	H1-hESC	embryonic stem cell:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78219273-78219323	ovcar-3	ovarian:	n/a
2	chr15:78219423-78219473	GM19239	blood:	n/a
3	chr15:78219423-78219473	AG04450	lung:	fetal
4	chr15:78219273-78219323	CMK	blood:	n/a
5	chr15:78219748-78219798	AG09309	skin:	n/a
6	chr15:78219273-78219323	GM06990	blood:	n/a
7	chr15:78219423-78219473	HCM	heart:	n/a
8	chr15:78219273-78219323	NHBE	bronchial:	n/a
9	chr15:78219748-78219798	AG04449	skin:	fetal
10	chr15:78219748-78219798	MCF10A-Er-Src	breast:	n/a
11	chr15:78219273-78219323	HNPCEpiC	eye:	n/a
12	chr15:78219423-78219473	CMK	blood:	n/a
13	chr15:78219273-78219323	HCPEpiC	choroid plexus:	n/a
14	chr15:78219748-78219798	NH-A	brain:	n/a
15	chr15:78219423-78219473	ovcar-3	ovarian:	n/a
16	chr15:78219273-78219323	PrEC	prostate:	n/a
17	chr15:78219273-78219323	SKMC	muscle:	n/a
18	chr15:78219273-78219323	PFSK-1	brain:	n/a
19	chr15:78219423-78219473	NB4	blood:	n/a
20	chr15:78219748-78219798	SK-N-MC	brain:	n/a
21	chr15:78219423-78219473	Hela-S3	cervix:	n/a
22	chr15:78219748-78219798	AG04450	lung:	fetal
23	chr15:78219273-78219323	IMR90	lung:	fetal
24	chr15:78219423-78219473	AG10803	skin:	n/a
25	chr15:78219273-78219323	MCF10A-Er-Src	breast:	n/a
26	chr15:78219273-78219323	ECC-1	luminal epithelium:	n/a
27	chr15:78219423-78219473	GM12878	blood:	n/a
28	chr15:78219748-78219798	NHBE	bronchial:	n/a
29	chr15:78219273-78219323	HRE	kidney:	n/a
30	chr15:78219748-78219798	NB4	blood:	n/a
31	chr15:78219423-78219473	PrEC	prostate:	n/a
32	chr15:78219273-78219323	GM19239	blood:	n/a
33	chr15:78219273-78219323	MCF-7	breast:	n/a
34	chr15:78219273-78219323	RPTEC	kidney:	n/a
35	chr15:78219748-78219798	BE2_C	brain:	n/a
36	chr15:78219273-78219323	NHDF-neo	bronchial:	n/a
37	chr15:78219748-78219798	T-47D	breast:	n/a
38	chr15:78219273-78219323	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:78219748-78219798	Hepatocyte	liver:	n/a
40	chr15:78219423-78219473	HAEpiC	amniotic membrane:	n/a
41	chr15:78219748-78219798	PrEC	prostate:	n/a
42	chr15:78219748-78219798	RPTEC	kidney:	n/a
43	chr15:78219748-78219798	LNCaP	prostate:	n/a
44	chr15:78219748-78219798	GM06990	blood:	n/a
45	chr15:78219423-78219473	SK-N-SH_RA	brain:	n/a
46	chr15:78219748-78219798	ovcar-3	ovarian:	n/a
47	chr15:78219423-78219473	NHBE	bronchial:	n/a
48	chr15:78219748-78219798	GM12892	blood:	n/a
49	chr15:78219423-78219473	K562	blood:	n/a
50	chr15:78219423-78219473	MCF-7	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH2D7-4	chr15:78214120-78214361	ENSG00000261244.1

No data

Variant related genes	Relation type
RN7SL214P	TF binding region
ENSG00000260776	TF binding region
RN7SL214P	CpG island
ENSG00000260776	CpG island

Extended variants
information (count: 613 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28433339	chr15:78213225-78213226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546646403	chr15:78213290-78213291	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs146278728	chr15:78213294-78213295	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186501877	chr15:78213322-78213323	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561650877	chr15:78213363-78213364	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528859326	chr15:78213380-78213381	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550699644	chr15:78213439-78213440	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs28550665	chr15:78213463-78213464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191166596	chr15:78213472-78213473	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537691569	chr15:78213572-78213573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs552492857	chr15:78213637-78213638	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs571153525	chr15:78213663-78213664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534994833	chr15:78213677-78213678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553219191	chr15:78213683-78213684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144176928	chr15:78213712-78213713	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535410288	chr15:78213721-78213722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs557043925	chr15:78213722-78213723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs183241406	chr15:78213739-78213740	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs4886968	chr15:78213760-78213761	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs368042909	chr15:78213761-78213762	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs12904130	chr15:78213768-78213769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531891352	chr15:78213811-78213812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4886969	chr15:78213834-78213835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113989597	chr15:78213837-78213838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11853564	chr15:78213861-78213862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372333454	chr15:78213865-78213866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551585195	chr15:78213884-78213885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534329910	chr15:78213885-78213886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528906573	chr15:78213890-78213891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376678630	chr15:78213892-78213893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148154813	chr15:78213902-78213903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368507265	chr15:78213910-78213911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562651153	chr15:78213911-78213912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532868070	chr15:78213913-78213914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199733427	chr15:78213945-78213946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187562515	chr15:78213949-78213950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560415347	chr15:78213969-78213970	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4886970	chr15:78213975-78213976	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs528659913	chr15:78214005-78214006	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs546890479	chr15:78214007-78214008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568372809	chr15:78214012-78214013	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs535494305	chr15:78214043-78214044	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556931466	chr15:78214062-78214063	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs4886971	chr15:78214075-78214076	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539533892	chr15:78214096-78214097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374269682	chr15:78214114-78214115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs558196414	chr15:78214154-78214155	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs143469154	chr15:78214155-78214156	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs551239586	chr15:78214176-78214177	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs555740655	chr15:78214178-78214179	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78180000-78215600	Weak transcription	Right Atrium	heart
2	chr15:78203200-78220200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr15:78203200-78227400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:78214200-78214600	Bivalent Enhancer	Fetal Stomach	stomach
5	chr15:78218600-78219000	Enhancers	HepG2	liver
6	chr15:78218600-78219200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr15:78219000-78219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:78219000-78222800	Weak transcription	HepG2	liver
9	chr15:78219200-78222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr15:78219200-78228200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:78220200-78220600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr15:78220600-78223800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:78221400-78221600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr15:78221600-78222600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:78222600-78223000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:78222600-78223200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr15:78222600-78223600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:78222600-78224000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr15:78222600-78224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:78222600-78224000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:78222800-78223000	Enhancers	HepG2	liver
22	chr15:78222800-78223000	Enhancers	K562	blood
23	chr15:78222800-78223200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr15:78222800-78223600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr15:78222800-78223600	Enhancers	Liver	Liver
26	chr15:78223000-78223600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:78223000-78223600	Weak transcription	HepG2	liver
28	chr15:78223200-78223600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:78223400-78223600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:78223400-78224400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:78223600-78223800	Enhancers	HepG2	liver
32	chr15:78223800-78224000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:78223800-78224000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr15:78224200-78224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:78225400-78231400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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