Variant report

Variant	nsv977858
Chromosome Location	chr15:82458762-82463635
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	CEBPB	chr15:82462873-82462971	K562	blood:	n/a	chr15:82462926-82462939
2	EP300	chr15:82457560-82460221	SK-N-SH	brain:	n/a	chr15:82459090-82459104 chr15:82458907-82458916 chr15:82457779-82457793 chr15:82459094-82459108 chr15:82459130-82459138
3	EP300	chr15:82458394-82458825	SK-N-SH_RA	brain:	n/a	n/a
4	GATA2	chr15:82458388-82458812	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr15:82458355-82458977	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr15:82458277-82458877	SK-N-SH	brain:	n/a	n/a
7	MAFK	chr15:82460546-82460805	HepG2	liver:	n/a	n/a
8	MAFK	chr15:82460636-82460737	IMR90	lung:	n/a	n/a
9	MAFK	chr15:82460640-82460829	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr15:82457517-82460234	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr15:82458373-82458791	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr15:82458985-82459075	ProgFib	skin:	n/a	n/a
13	POLR2A	chr15:82461529-82461543	MCF10A-Er-Src	breast:	n/a	n/a
14	RCOR1	chr15:82458991-82459014	GM12878	blood:	n/a	n/a
15	TCF12	chr15:82458197-82458788	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82445490..82448041-chr15:82456546..82458879,2	MCF-7	breast:
2	chr15:82460625..82462392-chr15:82463596..82466044,2	MCF-7	breast:
3	chr15:82375697..82377432-chr15:82459942..82461886,2	K562	blood:
4	chr15:82458497..82459064-chr5:22857888..22858526,2	MCF-7	breast:
5	chr15:82449628..82452365-chr15:82458960..82461423,2	MCF-7	breast:
6	chr15:82458770..82460757-chr15:82464173..82465930,2	K562	blood:
7	chr15:82460625..82462392-chr15:82463596..82466044,2	MCF-7	breast:

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 179 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs77798282	chr15:82458797-82458798	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565160947	chr15:82458842-82458843	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs116750268	chr15:82458849-82458850	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs547670753	chr15:82458897-82458898	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561655572	chr15:82458898-82458899	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529654714	chr15:82458912-82458913	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs375948192	chr15:82458956-82458957	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs151291433	chr15:82459044-82459045	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs112014344	chr15:82459083-82459084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs79776623	chr15:82459087-82459088	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs538740326	chr15:82459106-82459107	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140543318	chr15:82459132-82459133	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565898083	chr15:82459137-82459138	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534847688	chr15:82459234-82459235	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374301099	chr15:82459249-82459250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs552716814	chr15:82459307-82459308	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554545175	chr15:82459350-82459351	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12442609	chr15:82459354-82459355	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs34346381	chr15:82459356-82459357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs181771832	chr15:82459374-82459375	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377416208	chr15:82459409-82459410	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs556527561	chr15:82459456-82459457	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368778524	chr15:82459473-82459474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576409227	chr15:82459516-82459517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs57598148	chr15:82459585-82459586	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565075525	chr15:82459594-82459595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs374065006	chr15:82459605-82459606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191135143	chr15:82459616-82459617	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146965438	chr15:82459626-82459627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561415593	chr15:82459646-82459647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs530434119	chr15:82459655-82459656	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs549465382	chr15:82459660-82459661	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs182284062	chr15:82459668-82459669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186948168	chr15:82459669-82459670	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs189879006	chr15:82459670-82459671	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs373973688	chr15:82459743-82459744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565807664	chr15:82459751-82459752	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs557189954	chr15:82459774-82459775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs183072377	chr15:82459787-82459788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200725427	chr15:82459867-82459868	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs573862720	chr15:82459887-82459888	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs534736364	chr15:82459895-82459896	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs368661053	chr15:82459912-82459913	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575551257	chr15:82460045-82460046	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs138012816	chr15:82460062-82460063	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs28729156	chr15:82460075-82460076	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569702237	chr15:82460161-82460162	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs538676413	chr15:82460167-82460168	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs116532944	chr15:82460180-82460181	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs572247367	chr15:82460181-82460182	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
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	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82419200-82470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:82431200-82461200	Weak transcription	Small Intestine	intestine
3	chr15:82432600-82476400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:82439800-82465600	Weak transcription	K562	blood
6	chr15:82441400-82469600	Weak transcription	Fetal Brain Male	brain
7	chr15:82444400-82465200	Weak transcription	Brain Germinal Matrix	brain
8	chr15:82444600-82495800	Weak transcription	Fetal Intestine Small	intestine
9	chr15:82450200-82463400	Weak transcription	Hela-S3	cervix
10	chr15:82451000-82469800	Weak transcription	Psoas Muscle	Psoas
11	chr15:82452200-82463200	Weak transcription	Fetal Heart	heart
12	chr15:82452600-82470600	Weak transcription	Esophagus	oesophagus
13	chr15:82453200-82464000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr15:82453400-82464600	Weak transcription	NHEK	skin
15	chr15:82455400-82459200	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:82455400-82462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:82455400-82463400	Weak transcription	Right Ventricle	heart
18	chr15:82455400-82464600	Weak transcription	HMEC	breast
19	chr15:82455400-82466600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:82455400-82466800	Weak transcription	Brain Substantia Nigra	brain
21	chr15:82455400-82475200	Weak transcription	Brain Hippocampus Middle	brain
22	chr15:82455400-82475200	Weak transcription	Pancreas	Pancrea
23	chr15:82455600-82459000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:82455600-82459400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:82455600-82460000	Weak transcription	Primary B cells from cord blood	blood
26	chr15:82455600-82463400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:82455600-82464600	Weak transcription	Placenta	Placenta
28	chr15:82455600-82469200	Weak transcription	Brain Anterior Caudate	brain
29	chr15:82455600-82475200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:82455800-82464600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:82455800-82467200	Weak transcription	Spleen	Spleen
32	chr15:82455800-82469800	Weak transcription	Ovary	ovary
33	chr15:82456000-82463400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:82456000-82469800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:82456000-82475800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:82456000-82475800	Weak transcription	Lung	lung
37	chr15:82456000-82510000	Weak transcription	Thymus	Thymus
38	chr15:82456200-82460200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:82456200-82461200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:82456200-82469000	Weak transcription	Osteobl	bone
41	chr15:82456200-82469600	Weak transcription	HSMMtube	muscle
42	chr15:82456200-82470000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:82456200-82475200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:82456200-82475600	Weak transcription	Fetal Brain Female	brain
45	chr15:82456400-82459200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:82456400-82459200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:82456400-82459200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:82456400-82460000	Weak transcription	Fetal Stomach	stomach
49	chr15:82456400-82460800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr15:82456400-82469400	Weak transcription	HSMM	muscle

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