Variant report

Variant	nsv524098
Chromosome Location	chr15:58820978-58834391
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	BHLHE40	chr15:58829878-58831046	K562	blood:	n/a	n/a
2	CBX3	chr15:58831107-58831502	K562	blood:	n/a	n/a
3	CTCF	chr15:58826880-58827030	Caco-2	colon:	n/a	n/a
4	CTCF	chr15:58830268-58830344	GM13976	blood:	n/a	n/a
5	CTCF	chr15:58826780-58826930	Caco-2	colon:	n/a	n/a
6	CTCF	chr15:58826740-58826890	A549	lung:	n/a	n/a
7	CUX1	chr15:58830579-58831062	K562	blood:	n/a	n/a
8	ELF1	chr15:58830827-58831165	K562	blood:	n/a	n/a
9	EP300	chr15:58830652-58831012	K562	blood:	n/a	chr15:58830751-58830765 chr15:58830759-58830773
10	EP300	chr15:58820166-58821009	HepG2	liver:	n/a	chr15:58820433-58820449 chr15:58820499-58820513
11	EP300	chr15:58820050-58820988	A549	lung:	n/a	chr15:58820433-58820449 chr15:58820499-58820513
12	EP300	chr15:58819887-58821709	ECC-1	luminal epithelium:	n/a	chr15:58820433-58820449 chr15:58820499-58820513
13	FOXA1	chr15:58832646-58832922	T-47D	breast:	n/a	n/a
14	FOXA1	chr15:58827582-58827891	HepG2	liver:	n/a	n/a
15	FOXA1	chr15:58827648-58827890	HepG2	liver:	n/a	n/a
16	FOXA2	chr15:58827604-58827910	HepG2	liver:	n/a	n/a
17	FOXM1	chr15:58819846-58820980	ECC-1	luminal epithelium:	n/a	n/a
18	GATA3	chr15:58820008-58821175	A549	lung:	n/a	n/a
19	GATA3	chr15:58832530-58832925	T-47D	breast:	n/a	n/a
20	IRF1	chr15:58831242-58831387	K562	blood:	n/a	n/a
21	JUND	chr15:58830746-58830978	K562	blood:	n/a	n/a
22	JUND	chr15:58821300-58821352	HepG2	liver:	n/a	n/a
23	MAFF	chr15:58830556-58830918	HepG2	liver:	n/a	chr15:58830718-58830736
24	MAFF	chr15:58823003-58823087	K562	blood:	n/a	n/a
25	MAFF	chr15:58830541-58830946	K562	blood:	n/a	chr15:58830718-58830736
26	MAFK	chr15:58830542-58831142	K562	blood:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732 chr15:58831022-58831036
27	MAFK	chr15:58830595-58830919	Hela-S3	cervix:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
28	MAFK	chr15:58830623-58830875	H1-hESC	embryonic stem cell:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
29	MAFK	chr15:58830544-58830912	IMR90	lung:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
30	MAFK	chr15:58830544-58830919	HepG2	liver:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
31	MAFK	chr15:58830549-58830905	HepG2	liver:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
32	MAX	chr15:58820158-58821191	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr15:58820153-58820985	A549	lung:	n/a	n/a
34	MAX	chr15:58819796-58821094	A549	lung:	n/a	n/a
35	MAX	chr15:58820194-58820987	ECC-1	luminal epithelium:	n/a	n/a
36	MBD4	chr15:58820263-58821024	HepG2	liver:	n/a	n/a
37	MXI1	chr15:58825790-58825895	K562	blood:	n/a	n/a
38	MYC	chr15:58830892-58830948	K562	blood:	n/a	n/a
39	NFIC	chr15:58820109-58821728	ECC-1	luminal epithelium:	n/a	chr15:58821420-58821436 chr15:58821419-58821436
40	NFIC	chr15:58820114-58821050	ECC-1	luminal epithelium:	n/a	n/a
41	NFIC	chr15:58821098-58821768	ECC-1	luminal epithelium:	n/a	chr15:58821420-58821436 chr15:58821419-58821436
42	NFYB	chr15:58830123-58830812	K562	blood:	n/a	chr15:58830281-58830294 chr15:58830283-58830295
43	POLR2A	chr15:58830661-58830776	K562	blood:	n/a	n/a
44	POLR2A	chr15:58832979-58833072	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:58833123-58833138	HepG2	liver:	n/a	n/a
46	RCOR1	chr15:58830436-58830850	K562	blood:	n/a	n/a
47	RCOR1	chr15:58831163-58831439	K562	blood:	n/a	n/a
48	REST	chr15:58832654-58832984	ECC-1	luminal epithelium:	n/a	n/a
49	RFX5	chr15:58821153-58821309	HepG2	liver:	n/a	n/a
50	SETDB1	chr15:58831120-58831493	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58824835..58829265-chr15:58838025..58840916,4	K562	blood:
2	chr15:58821339..58824324-chr15:58827495..58830002,2	K562	blood:
3	chr15:58825432..58828316-chr15:58831546..58833771,2	K562	blood:
4	chr15:58811000..58814506-chr15:58833587..58836863,3	K562	blood:
5	chr15:58818144..58821107-chr15:58827941..58830725,2	K562	blood:
6	chr15:58819551..58822537-chr15:58827877..58830479,4	MCF-7	breast:
7	chr15:58818144..58821107-chr15:58827941..58830725,2	K562	blood:
8	chr15:58816638..58820223-chr15:58821126..58823355,3	K562	blood:
9	chr15:58826844..58829894-chr15:58830653..58832935,3	MCF-7	breast:
10	chr15:58819551..58822537-chr15:58827877..58830479,4	MCF-7	breast:
11	chr15:58819426..58821702-chr15:58824237..58826443,2	K562	blood:
12	chr15:58826844..58829894-chr15:58830653..58832935,3	MCF-7	breast:
13	chr15:58825432..58828316-chr15:58831546..58833771,2	K562	blood:
14	chr15:58815189..58818138-chr15:58821018..58822626,2	K562	blood:
15	chr15:58819426..58821702-chr15:58824237..58826443,2	K562	blood:
16	chr15:58815750..58818981-chr15:58825032..58827694,3	K562	blood:
17	chr15:58830999..58833241-chr15:58833463..58835681,3	K562	blood:
18	chr15:58824835..58829265-chr15:58838025..58840916,5	K562	blood:
19	chr15:58815957..58817851-chr15:58819397..58821378,2	MCF-7	breast:
20	chr15:58814659..58816490-chr15:58819397..58821413,2	MCF-7	breast:
21	chr15:58821339..58824324-chr15:58827495..58830002,2	K562	blood:
22	chr15:58821255..58823179-chr15:58836509..58838748,2	K562	blood:
23	chr15:58831032..58833136-chr15:58839307..58841040,2	MCF-7	breast:

Variant related genes	Relation type
LIPC	TF binding region
ENSG00000259476	chromatin interactions
ENSG00000166035	chromatin interactions

Extended variants
information (count: 575 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4775070	chr15:58820978-58820979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536108892	chr15:58821002-58821003	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs537546813	chr15:58821045-58821046	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557727119	chr15:58821046-58821047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568917630	chr15:58821115-58821116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531222449	chr15:58821133-58821134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs551327744	chr15:58821155-58821156	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145334106	chr15:58821174-58821175	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539703866	chr15:58821315-58821316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138079938	chr15:58821415-58821416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566772305	chr15:58821423-58821424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536027116	chr15:58821426-58821427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555617486	chr15:58821440-58821441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575662729	chr15:58821490-58821491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs41292496	chr15:58821500-58821501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577761013	chr15:58821506-58821507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558089906	chr15:58821526-58821527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578061816	chr15:58821689-58821690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534059177	chr15:58821692-58821693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs59288334	chr15:58821734-58821735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs74471855	chr15:58821745-58821746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573915127	chr15:58821750-58821751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116390659	chr15:58821819-58821820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558553059	chr15:58821829-58821830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542876967	chr15:58821854-58821855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375852837	chr15:58821860-58821861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142540036	chr15:58821861-58821862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542818879	chr15:58821901-58821902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562547418	chr15:58821906-58821907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188674653	chr15:58821918-58821919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564581156	chr15:58821919-58821920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527288685	chr15:58821946-58821947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576516821	chr15:58822047-58822048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181520989	chr15:58822077-58822078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576444101	chr15:58822085-58822086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561025442	chr15:58822125-58822126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545210718	chr15:58822137-58822138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369864958	chr15:58822146-58822147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569259111	chr15:58822169-58822170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs41292498	chr15:58822220-58822221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143204788	chr15:58822221-58822222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527705836	chr15:58822228-58822229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186694008	chr15:58822229-58822230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554121955	chr15:58822334-58822335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547667151	chr15:58822348-58822349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148277519	chr15:58822352-58822353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190306520	chr15:58822354-58822355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78040633	chr15:58822361-58822362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141320878	chr15:58822411-58822412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564616736	chr15:58822428-58822429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58815600-58821000	Weak transcription	NHEK	skin
2	chr15:58817600-58821600	Enhancers	Right Ventricle	heart
3	chr15:58817600-58822000	Enhancers	Pancreas	Pancrea
4	chr15:58818000-58821400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:58818000-58821400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:58818000-58825200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr15:58818200-58821200	Enhancers	Left Ventricle	heart
8	chr15:58818200-58821600	Enhancers	Right Atrium	heart
9	chr15:58818400-58821600	Enhancers	Adipose Nuclei	Adipose
10	chr15:58818600-58821200	Enhancers	Gastric	stomach
11	chr15:58818600-58822600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:58818800-58821000	Weak transcription	Aorta	Aorta
13	chr15:58819000-58821000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr15:58819000-58821000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr15:58819000-58821600	Enhancers	Stomach Mucosa	stomach
16	chr15:58819200-58821400	Enhancers	Duodenum Mucosa	Duodenum
17	chr15:58819200-58821400	Enhancers	Placenta	Placenta
18	chr15:58819200-58821400	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:58819400-58821000	Enhancers	Lung	lung
20	chr15:58819400-58821200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:58819600-58821200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:58819600-58821200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:58819600-58821200	Enhancers	Fetal Kidney	kidney
24	chr15:58819600-58821400	Enhancers	Ovary	ovary
25	chr15:58819600-58821600	Enhancers	Brain Substantia Nigra	brain
26	chr15:58819600-58821600	Enhancers	Fetal Muscle Leg	muscle
27	chr15:58819800-58821200	Enhancers	NHDF-Ad	bronchial
28	chr15:58819800-58821400	Enhancers	Hela-S3	cervix
29	chr15:58820000-58821000	Enhancers	Colonic Mucosa	Colon
30	chr15:58820000-58821000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:58820000-58821200	Flanking Active TSS	Liver	Liver
32	chr15:58820000-58821200	Enhancers	Colon Smooth Muscle	Colon
33	chr15:58820000-58821400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr15:58820000-58821600	Enhancers	Stomach Smooth Muscle	stomach
35	chr15:58820200-58821200	Flanking Active TSS	A549	lung
36	chr15:58820200-58821400	Weak transcription	Psoas Muscle	Psoas
37	chr15:58820200-58821600	Enhancers	Fetal Muscle Trunk	muscle
38	chr15:58820200-58823400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:58820400-58821200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr15:58820400-58824000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:58820600-58821000	Enhancers	NH-A	brain
42	chr15:58820600-58821200	Enhancers	Rectal Smooth Muscle	rectum
43	chr15:58820600-58822400	Enhancers	HepG2	liver
44	chr15:58820800-58821200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:58820800-58821200	Flanking Active TSS	Fetal Heart	heart
46	chr15:58820800-58821200	Enhancers	Spleen	Spleen
47	chr15:58820800-58822000	Enhancers	Esophagus	oesophagus
48	chr15:58821000-58821200	Enhancers	Aorta	Aorta
49	chr15:58821000-58821200	Enhancers	NHEK	skin
50	chr15:58821000-58826400	Weak transcription	Colonic Mucosa	Colon

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