Variant report

Variant	nsv518840
Chromosome Location	chr15:78871288-78887171
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:78875980-78876072	K562	blood:	n/a	n/a
2	GATA3	chr15:78879797-78879997	SH-SY5Y	brain:	n/a	n/a
3	MAFF	chr15:78871938-78871939	K562	blood:	n/a	n/a
4	MAFK	chr15:78880146-78880337	HepG2	liver:	n/a	n/a
5	MAFK	chr15:78880192-78880303	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:78872691-78872855	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr15:78886731-78886852	MCF-7	breast:	n/a	n/a
8	POLR2A	chr15:78886760-78886850	MCF-7	breast:	n/a	n/a
9	POLR2A	chr15:78878373-78878723	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr15:78878852-78879006	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr15:78878376-78878735	H1-neurons	neurons:	n/a	n/a
12	PRDM1	chr15:78879959-78880050	Hela-S3	cervix:	n/a	n/a
13	RCOR1	chr15:78877798-78877805	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr15:78885155-78885273	K562	blood:	n/a	n/a
15	STAT3	chr15:78885320-78885379	Hela-S3	cervix:	n/a	n/a
16	ZNF384	chr15:78874775-78874943	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78875377..78879789-chr15:78880777..78885451,4	MCF-7	breast:
2	chr15:78843350..78846204-chr15:78880835..78882358,2	K562	blood:
3	chr15:78874935..78877204-chr15:78886977..78889217,2	K562	blood:
4	chr15:78869904..78872050-chr15:79066335..79069045,2	MCF-7	breast:
5	chr15:78882992..78885347-chr15:78887444..78889243,2	K562	blood:
6	chr15:78841390..78843415-chr15:78873575..78876232,2	K562	blood:
7	chr15:78856829..78859246-chr15:78874594..78877162,2	K562	blood:
8	chr15:78874644..78876523-chr15:78887781..78889703,2	MCF-7	breast:
9	chr15:78875573..78878455-chr15:78878955..78880696,2	K562	blood:
10	chr15:78878487..78880659-chr15:78887791..78889920,2	MCF-7	breast:
11	chr15:78875274..78876810-chr15:78879173..78881083,2	K562	blood:
12	chr15:78875274..78876810-chr15:78879173..78881083,2	K562	blood:
13	chr15:78831312..78834277-chr15:78872379..78875019,2	MCF-7	breast:
14	chr15:78875573..78878455-chr15:78878955..78880696,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261762	TF binding region
CHRNA5	TF binding region
ENSG00000080644	chromatin interactions
ENSG00000261762	chromatin interactions
ENSG00000169684	chromatin interactions
ENSG00000041357	chromatin interactions

Extended variants
information (count: 716 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs680244	chr15:78871288-78871289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372751193	chr15:78871382-78871383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565980862	chr15:78871383-78871384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397784937	chr15:78871397-78871398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549061019	chr15:78871410-78871411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540973848	chr15:78871476-78871477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569464591	chr15:78871546-78871547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540159302	chr15:78871558-78871559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140662795	chr15:78871579-78871580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398119004	chr15:78871580-78871581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138540854	chr15:78871583-78871584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547845606	chr15:78871607-78871608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569465632	chr15:78871626-78871627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184607442	chr15:78871632-78871633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374703816	chr15:78871640-78871641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567704643	chr15:78871660-78871661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534380208	chr15:78871673-78871674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555904216	chr15:78871741-78871742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574138217	chr15:78871743-78871744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544642572	chr15:78871754-78871755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372974172	chr15:78871788-78871789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374789547	chr15:78871842-78871843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577944277	chr15:78871847-78871848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367809533	chr15:78871876-78871877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55715560	chr15:78871885-78871886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527523376	chr15:78871886-78871887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573715298	chr15:78871932-78871933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117141924	chr15:78871972-78871973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560671160	chr15:78872023-78872024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531271764	chr15:78872024-78872025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1878398	chr15:78872027-78872028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531689834	chr15:78872094-78872095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145087667	chr15:78872128-78872129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114570989	chr15:78872147-78872148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115472979	chr15:78872198-78872199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187943108	chr15:78872207-78872208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142527742	chr15:78872212-78872213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537861217	chr15:78872237-78872238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56740585	chr15:78872358-78872359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574199651	chr15:78872381-78872382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550121505	chr15:78872382-78872383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556362578	chr15:78872385-78872386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578006552	chr15:78872401-78872402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571876682	chr15:78872444-78872445	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs375300765	chr15:78872447-78872448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567421362	chr15:78872481-78872482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560405970	chr15:78872482-78872483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs571963681	chr15:78872499-78872500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs542428674	chr15:78872516-78872517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560781250	chr15:78872570-78872571	Weak transcription	Chromatin interactive region	1 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
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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78859200-78882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:78860200-78881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:78860200-78881600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr15:78860200-78882200	Weak transcription	Hela-S3	cervix
5	chr15:78865800-78873200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:78868000-78895800	Weak transcription	GM12878-XiMat	blood
7	chr15:78869600-78882000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:78869800-78882200	Weak transcription	A549	lung
9	chr15:78872600-78881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:78873200-78873400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:78873400-78873600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:78873600-78881200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:78877400-78884400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:78877800-78881600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:78877800-78882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:78877800-78882200	Weak transcription	Thymus	Thymus
17	chr15:78877800-78890400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:78878600-78882000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:78878800-78884000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:78879600-78881600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:78880000-78882200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:78880200-78882000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:78880200-78883000	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:78880200-78893400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:78880200-78893800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:78880200-78897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:78880400-78882600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr15:78880600-78882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:78881000-78884600	Weak transcription	Fetal Thymus	thymus
30	chr15:78881200-78883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:78881400-78883000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:78881400-78883800	Weak transcription	HepG2	liver
33	chr15:78881400-78885400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:78881600-78883000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:78881600-78883200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:78881600-78883400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:78881600-78883600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:78881600-78893200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr15:78882000-78883200	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr15:78882000-78883400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr15:78882000-78883600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:78882000-78887000	Weak transcription	K562	blood
43	chr15:78882200-78883000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr15:78882200-78883000	Strong transcription	Thymus	Thymus
45	chr15:78882200-78883000	Strong transcription	A549	lung
46	chr15:78882200-78883200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:78882200-78883200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr15:78882200-78883200	Strong transcription	Hela-S3	cervix
49	chr15:78882400-78883200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr15:78882600-78883400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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