Variant report

Variant	nsv976956
Chromosome Location	chr15:82491360-82521554
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	ARID3A	chr15:82514032-82514105	HepG2	liver:	n/a	n/a
2	ATF1	chr15:82502554-82502603	K562	blood:	n/a	n/a
3	CBX3	chr15:82502495-82503014	HCT-116	colon:	n/a	n/a
4	CBX3	chr15:82502457-82502885	K562	blood:	n/a	n/a
5	CEBPB	chr15:82503240-82503506	HepG2	liver:	n/a	chr15:82503333-82503344
6	CEBPB	chr15:82500486-82500779	A549	lung:	n/a	chr15:82500605-82500616 chr15:82500605-82500618
7	CEBPB	chr15:82500471-82500724	Hela-S3	cervix:	n/a	chr15:82500605-82500616 chr15:82500605-82500618
8	CEBPB	chr15:82500633-82500693	K562	blood:	n/a	n/a
9	CEBPB	chr15:82495755-82495795	IMR90	lung:	n/a	n/a
10	CEBPB	chr15:82500482-82500769	HepG2	liver:	n/a	chr15:82500605-82500616 chr15:82500605-82500618
11	CEBPB	chr15:82503172-82503467	K562	blood:	n/a	chr15:82503333-82503344
12	CEBPB	chr15:82513972-82514206	MCF-7	breast:	n/a	chr15:82514049-82514060
13	CEBPB	chr15:82513887-82514202	HepG2	liver:	n/a	chr15:82514049-82514060
14	CEBPB	chr15:82513967-82514217	A549	lung:	n/a	chr15:82514049-82514060
15	CEBPB	chr15:82513950-82514074	H1-hESC	embryonic stem cell:	n/a	chr15:82514049-82514060
16	CEBPB	chr15:82514003-82514202	IMR90	lung:	n/a	chr15:82514049-82514060
17	CEBPB	chr15:82513991-82514216	K562	blood:	n/a	chr15:82514049-82514060
18	CEBPB	chr15:82513893-82514222	Hela-S3	cervix:	n/a	chr15:82514049-82514060
19	CEBPB	chr15:82500500-82500680	IMR90	lung:	n/a	chr15:82500605-82500616 chr15:82500605-82500618
20	CEBPB	chr15:82502514-82502869	HCT-116	colon:	n/a	n/a
21	CEBPB	chr15:82503215-82503402	IMR90	lung:	n/a	chr15:82503333-82503344
22	CTCF	chr15:82514020-82514170	GM12865	blood:	n/a	n/a
23	CTCF	chr15:82513968-82514166	NHEK	skin:	n/a	n/a
24	CTCF	chr15:82514020-82514170	GM06990	blood:	n/a	n/a
25	CTCF	chr15:82513976-82514146	Fibrobl	skin:	n/a	n/a
26	CTCF	chr15:82513936-82514157	GM12892	blood:	n/a	n/a
27	CTCF	chr15:82513980-82514130	HRPEpiC	eye:	n/a	n/a
28	CTCF	chr15:82507127-82507132	GM10248	blood:	n/a	n/a
29	CTCF	chr15:82514020-82514170	HEK293	kidney:	n/a	n/a
30	CTCF	chr15:82513969-82514163	GM10248	blood:	n/a	n/a
31	CTCF	chr15:82513993-82514130	MCF-7	breast:	n/a	n/a
32	CTCF	chr15:82514060-82514210	HRE	kidney:	n/a	n/a
33	CTCF	chr15:82513978-82514166	GM19239	blood:	n/a	n/a
34	CTCF	chr15:82514020-82514170	AG04449	skin:	n/a	n/a
35	CTCF	chr15:82513962-82514172	HepG2	liver:	n/a	n/a
36	CTCF	chr15:82514020-82514170	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr15:82513936-82514157	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr15:82513852-82514166	K562	blood:	n/a	n/a
39	CTCF	chr15:82514000-82514150	HVMF	connective:	n/a	n/a
40	CTCF	chr15:82513871-82514267	GM12878	blood:	n/a	n/a
41	CTCF	chr15:82513980-82514130	BE2_C	brain:	n/a	n/a
42	CTCF	chr15:82514040-82514190	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr15:82514080-82514230	HFF-Myc	foreskin:	n/a	n/a
44	CTCF	chr15:82514020-82514170	Caco-2	colon:	n/a	n/a
45	CTCF	chr15:82514000-82514150	Caco-2	colon:	n/a	n/a
46	CTCF	chr15:82514020-82514170	HEEpiC	esophagus:	n/a	n/a
47	CTCF	chr15:82513954-82514183	GM12878	blood:	n/a	n/a
48	CTCF	chr15:82514020-82514170	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr15:82513980-82514130	MCF-7	breast:	n/a	n/a
50	CTCF	chr15:82514040-82514190	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:82511968..82514595-chr15:82553137..82554662,2	K562	blood:
2	chr15:82514202..82516505-chr15:82518442..82521206,2	K562	blood:
3	chr15:82495558..82497453-chr15:82498796..82500529,2	K562	blood:
4	chr15:82495558..82497453-chr15:82498796..82500529,2	K562	blood:
5	chr15:82514202..82516505-chr15:82518442..82521206,2	K562	blood:
6	chr15:82469694..82471985-chr15:82489609..82491664,2	MCF-7	breast:

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 1149 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151098763	chr15:82491367-82491368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550699854	chr15:82491370-82491371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377629836	chr15:82491379-82491380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566376957	chr15:82491389-82491390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181546956	chr15:82491426-82491427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548181857	chr15:82491434-82491435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117381154	chr15:82491446-82491447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185708916	chr15:82491508-82491509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556688341	chr15:82491548-82491549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570305806	chr15:82491575-82491576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569377383	chr15:82491590-82491591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552801927	chr15:82491592-82491593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140710084	chr15:82491672-82491673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373175397	chr15:82491683-82491684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28587326	chr15:82491687-82491688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs567040467	chr15:82491704-82491705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370385935	chr15:82491723-82491724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541033894	chr15:82491727-82491728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554927305	chr15:82491744-82491745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147795446	chr15:82491815-82491816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534509204	chr15:82491816-82491817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543924352	chr15:82491833-82491834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563781263	chr15:82491903-82491904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532704442	chr15:82491908-82491909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559233936	chr15:82491931-82491932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546438013	chr15:82491950-82491951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34497636	chr15:82491957-82491958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191593012	chr15:82491990-82491991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528764779	chr15:82492016-82492017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548631113	chr15:82492063-82492064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62012007	chr15:82492170-82492171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs530467028	chr15:82492180-82492181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146918895	chr15:82492197-82492198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570216587	chr15:82492226-82492227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539218072	chr15:82492237-82492238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558692001	chr15:82492245-82492246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538673865	chr15:82492263-82492264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183945078	chr15:82492271-82492272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188842243	chr15:82492296-82492297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34802568	chr15:82492352-82492353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535735163	chr15:82492378-82492379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs118166594	chr15:82492388-82492389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574735008	chr15:82492405-82492406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200839416	chr15:82492417-82492418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543841298	chr15:82492426-82492427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190975257	chr15:82492431-82492432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556673643	chr15:82492438-82492439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182408869	chr15:82492465-82492466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143698636	chr15:82492529-82492530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542267022	chr15:82492540-82492541	Weak transcription	n/a	n/a	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	17122850	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82432600-82552800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr15:82444600-82495800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:82456000-82510000	Weak transcription	Thymus	Thymus
4	chr15:82456400-82502200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr15:82456400-82502400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:82456400-82502600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:82456400-82502800	Weak transcription	Gastric	stomach
8	chr15:82456400-82505400	Weak transcription	Dnd41	blood
9	chr15:82456400-82505600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:82456400-82505600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr15:82456600-82497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:82456800-82509800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:82458200-82504800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr15:82458800-82502800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:82462000-82505800	Weak transcription	Primary B cells from cord blood	blood
16	chr15:82464000-82494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:82465000-82510000	Weak transcription	Placenta	Placenta
18	chr15:82471000-82502200	Weak transcription	NHEK	skin
19	chr15:82471000-82502800	Weak transcription	Fetal Stomach	stomach
20	chr15:82471000-82518600	Weak transcription	Right Ventricle	heart
21	chr15:82474800-82502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:82474800-82502800	Weak transcription	Fetal Intestine Large	intestine
23	chr15:82475400-82502600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:82476000-82519200	Weak transcription	Pancreas	Pancrea
25	chr15:82476400-82502800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:82476600-82502400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:82477000-82502600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:82477000-82510000	Weak transcription	HMEC	breast
29	chr15:82477000-82519200	Weak transcription	HSMMtube	muscle
30	chr15:82477400-82502600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr15:82477600-82522800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:82479600-82496800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr15:82479800-82495600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:82479800-82510200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:82480000-82502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:82481800-82553000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr15:82484800-82502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:82485800-82493000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:82485800-82496800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:82485800-82497200	Weak transcription	NHLF	lung
41	chr15:82485800-82502400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:82485800-82510000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:82485800-82510400	Weak transcription	Osteobl	bone
44	chr15:82486000-82520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:82488000-82519200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:82488200-82496600	Weak transcription	Lung	lung
47	chr15:82488200-82510200	Weak transcription	Left Ventricle	heart
48	chr15:82488200-82531200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:82488400-82502800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:82488600-82502800	Weak transcription	Esophagus	oesophagus

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