Variant report

Variant	nsv522373
Chromosome Location	chr15:58829535-58836938
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	chr15:58830268-58830344	GM13976	blood:	n/a	n/a
4	CUX1	chr15:58830579-58831062	K562	blood:	n/a	n/a
5	EBF1	chr15:58834428-58834723	GM12878	blood:	n/a	chr15:58834562-58834573
6	ELF1	chr15:58830827-58831165	K562	blood:	n/a	n/a
7	EP300	chr15:58830652-58831012	K562	blood:	n/a	chr15:58830751-58830765 chr15:58830759-58830773
8	FOXA1	chr15:58832646-58832922	T-47D	breast:	n/a	n/a
9	GATA3	chr15:58832530-58832925	T-47D	breast:	n/a	n/a
10	IRF1	chr15:58831242-58831387	K562	blood:	n/a	n/a
11	JUND	chr15:58830746-58830978	K562	blood:	n/a	n/a
12	MAFF	chr15:58830541-58830946	K562	blood:	n/a	chr15:58830718-58830736
13	MAFF	chr15:58830556-58830918	HepG2	liver:	n/a	chr15:58830718-58830736
14	MAFK	chr15:58830549-58830905	HepG2	liver:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
15	MAFK	chr15:58830544-58830912	IMR90	lung:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
16	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
17	MAFK	chr15:58830544-58830919	HepG2	liver:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
18	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
19	MAFK	chr15:58830595-58830919	Hela-S3	cervix:	n/a	chr15:58830719-58830733 chr15:58830720-58830735 chr15:58830720-58830731 chr15:58830721-58830732 chr15:58830721-58830732
20	MYC	chr15:58830892-58830948	K562	blood:	n/a	n/a
21	NFYB	chr15:58830123-58830812	K562	blood:	n/a	chr15:58830281-58830294 chr15:58830283-58830295
22	POLR2A	chr15:58833123-58833138	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:58832979-58833072	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:58830661-58830776	K562	blood:	n/a	n/a
25	RCOR1	chr15:58836451-58836525	K562	blood:	n/a	n/a
26	RCOR1	chr15:58831163-58831439	K562	blood:	n/a	n/a
27	RCOR1	chr15:58830436-58830850	K562	blood:	n/a	n/a
28	REST	chr15:58832654-58832984	ECC-1	luminal epithelium:	n/a	n/a
29	SETDB1	chr15:58831120-58831493	U2OS	brain:	n/a	n/a
30	TAL1	chr15:58830815-58831006	K562	blood:	n/a	n/a
31	TEAD4	chr15:58830462-58830966	K562	blood:	n/a	n/a
32	YY1	chr15:58831148-58831382	K562	blood:	n/a	n/a
33	ZMIZ1	chr15:58830804-58831004	K562	blood:	n/a	n/a
34	ZNF143	chr15:58834065-58834101	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:58810857..58816650-chr15:58835363..58842392,10	K562	blood:
2	chr15:58811000..58814506-chr15:58833587..58836863,3	K562	blood:
3	chr15:58830999..58833241-chr15:58833463..58835681,3	K562	blood:
4	chr15:58821339..58824324-chr15:58827495..58830002,2	K562	blood:
5	chr15:58818144..58821107-chr15:58827941..58830725,2	K562	blood:
6	chr15:58826844..58829894-chr15:58830653..58832935,3	MCF-7	breast:
7	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
8	chr15:58821255..58823179-chr15:58836509..58838748,2	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	chr15:58831032..58833136-chr15:58839307..58841040,2	MCF-7	breast:
12	chr15:58825432..58828316-chr15:58831546..58833771,2	K562	blood:

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

Extended variants
information (count: 391 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8039477	chr15:58829535-58829536	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373295201	chr15:58829542-58829543	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190979348	chr15:58829562-58829563	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543362569	chr15:58829582-58829583	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563262782	chr15:58829651-58829652	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532309672	chr15:58829671-58829672	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552033497	chr15:58829716-58829717	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58322146	chr15:58829720-58829721	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397966172	chr15:58829722-58829723	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11857273	chr15:58829748-58829749	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528281990	chr15:58829752-58829753	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547990246	chr15:58829757-58829758	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138214129	chr15:58829766-58829767	Enhancers Weak transcription Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537065792	chr15:58829850-58829851	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369555510	chr15:58829857-58829858	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375538817	chr15:58829861-58829862	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11853726	chr15:58829894-58829895	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570446605	chr15:58829904-58829905	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs539367277	chr15:58829907-58829908	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs559199114	chr15:58830006-58830007	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572591201	chr15:58830085-58830086	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs183452581	chr15:58830163-58830164	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs567247073	chr15:58830196-58830197	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112313480	chr15:58830225-58830226	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187512774	chr15:58830233-58830234	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs117718554	chr15:58830294-58830295	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs563372958	chr15:58830306-58830307	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs532370799	chr15:58830312-58830313	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs545821262	chr15:58830352-58830353	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371538238	chr15:58830363-58830364	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs559559456	chr15:58830450-58830451	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200963443	chr15:58830506-58830507	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs529687421	chr15:58830510-58830511	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs370050961	chr15:58830511-58830512	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs192721308	chr15:58830512-58830513	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs373539368	chr15:58830517-58830518	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs370218629	chr15:58830518-58830519	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs184587533	chr15:58830528-58830529	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs150009389	chr15:58830563-58830564	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs549763129	chr15:58830574-58830575	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374220111	chr15:58830576-58830577	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145223292	chr15:58830586-58830587	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201591235	chr15:58830592-58830593	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs568178076	chr15:58830608-58830609	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs376746632	chr15:58830609-58830610	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369262181	chr15:58830636-58830637	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140029729	chr15:58830639-58830640	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143550925	chr15:58830649-58830650	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200127425	chr15:58830650-58830651	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113174258	chr15:58830656-58830657	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58821200-58832200	Weak transcription	Fetal Kidney	kidney
2	chr15:58821600-58838000	Weak transcription	Right Atrium	heart
3	chr15:58826200-58830800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:58826400-58830400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:58826600-58837800	Weak transcription	Spleen	Spleen
6	chr15:58827600-58843400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:58828200-58830000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:58828400-58837000	Weak transcription	Primary T cells from cord blood	blood
9	chr15:58828400-58838000	Weak transcription	HepG2	liver
10	chr15:58828600-58839000	Weak transcription	Pancreas	Pancrea
11	chr15:58828800-58829600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr15:58828800-58837000	Weak transcription	Fetal Thymus	thymus
13	chr15:58829000-58830800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:58829000-58847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:58829400-58829600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:58829400-58838200	Strong transcription	Liver	Liver
17	chr15:58829600-58829800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:58829800-58830000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:58830000-58832800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:58830200-58830600	Enhancers	K562	blood
21	chr15:58830200-58831000	Enhancers	Fetal Stomach	stomach
22	chr15:58830600-58831000	Flanking Active TSS	K562	blood
23	chr15:58830800-58831200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:58830800-58831800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:58831000-58831400	Enhancers	K562	blood
26	chr15:58831200-58836200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:58831400-58835400	Weak transcription	K562	blood
28	chr15:58831800-58832200	Enhancers	Fetal Muscle Leg	muscle
29	chr15:58831800-58834000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:58832000-58832200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:58832000-58832200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:58832000-58832200	Enhancers	HSMMtube	muscle
33	chr15:58832200-58832400	Enhancers	Fetal Kidney	kidney
34	chr15:58832200-58832800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:58832200-58838000	Weak transcription	HSMMtube	muscle
36	chr15:58832800-58833000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:58832800-58833200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:58832800-58834000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:58832800-58835000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:58833000-58833200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr15:58833000-58833600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:58833200-58837400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:58834000-58834400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr15:58834400-58835000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:58835000-58835400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:58835000-58837800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:58835400-58835600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr15:58835400-58835600	ZNF genes & repeats	Thymus	Thymus
49	chr15:58835400-58835800	Enhancers	K562	blood
50	chr15:58835600-58837600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links