Variant report

Variant	nsv869279
Chromosome Location	chr10:116884639-117032437
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	BCL11A	chr10:116966710-116966859	GM12878	blood:	n/a	n/a
2	CEBPB	chr10:116975431-116975621	HepG2	liver:	n/a	chr10:116975526-116975537
3	CEBPB	chr10:116929771-116929965	IMR90	lung:	n/a	chr10:116929825-116929836
4	CEBPB	chr10:116934066-116934212	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:117002025-117002251	K562	blood:	n/a	chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002118-117002129
6	CEBPB	chr10:116932005-116932101	IMR90	lung:	n/a	n/a
7	CEBPB	chr10:116929797-116929885	HepG2	liver:	n/a	chr10:116929825-116929836
8	CEBPB	chr10:117001936-117002282	IMR90	lung:	n/a	chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002118-117002129
9	CEBPB	chr10:117001944-117002246	A549	lung:	n/a	chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002118-117002129
10	CEBPB	chr10:117020851-117020985	H1-hESC	embryonic stem cell:	n/a	chr10:117020908-117020919
11	CEBPB	chr10:116995097-116995194	Hela-S3	cervix:	n/a	chr10:116995102-116995113
12	CEBPB	chr10:117001980-117002262	Hela-S3	cervix:	n/a	chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002118-117002129
13	CEBPB	chr10:116994990-116995237	HepG2	liver:	n/a	chr10:116995102-116995113
14	CEBPB	chr10:117004170-117004278	A549	lung:	n/a	n/a
15	CEBPB	chr10:117020776-117021067	HepG2	liver:	n/a	chr10:117020908-117020919
16	CEBPB	chr10:116927494-116927774	Hela-S3	cervix:	n/a	chr10:116927673-116927684 chr10:116927632-116927643
17	CEBPB	chr10:116995044-116995244	K562	blood:	n/a	chr10:116995102-116995113
18	CEBPB	chr10:116927504-116927845	IMR90	lung:	n/a	chr10:116927673-116927684 chr10:116927632-116927643
19	CEBPB	chr10:116994971-116995217	IMR90	lung:	n/a	chr10:116995102-116995113
20	CEBPB	chr10:116973743-116973926	HepG2	liver:	n/a	n/a
21	CEBPB	chr10:116934024-116934214	A549	lung:	n/a	n/a
22	CEBPB	chr10:116927495-116927842	HepG2	liver:	n/a	chr10:116927673-116927684 chr10:116927632-116927643
23	CEBPB	chr10:117020878-117021066	A549	lung:	n/a	chr10:117020908-117020919
24	CEBPB	chr10:116927507-116927819	A549	lung:	n/a	chr10:116927673-116927684 chr10:116927632-116927643
25	CEBPB	chr10:117001966-117002295	HepG2	liver:	n/a	chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002117-117002130 chr10:117002119-117002128 chr10:117002118-117002129
26	CEBPB	chr10:116927533-116927696	K562	blood:	n/a	chr10:116927673-116927684 chr10:116927632-116927643
27	CTCF	chr10:116931300-116931450	HCM	heart:	n/a	chr10:116931317-116931338 chr10:116931318-116931331 chr10:116931315-116931333 chr10:116931316-116931332
28	CTCF	chr10:116901120-116901270	AG09319	gingival:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
29	CTCF	chr10:116889700-116889850	GM06990	blood:	n/a	chr10:116889725-116889743 chr10:116889720-116889741
30	CTCF	chr10:116901078-116901502	HCT-116	colon:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
31	CTCF	chr10:116901120-116901270	GM12873	blood:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
32	CTCF	chr10:116931320-116931370	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr10:116901140-116901290	Hela-S3	cervix:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
34	CTCF	chr10:116889595-116889861	Spleen_OC	spleen:	n/a	chr10:116889725-116889743 chr10:116889720-116889741
35	CTCF	chr10:116901060-116901210	HFF	foreskin:	n/a	n/a
36	CTCF	chr10:117021340-117021490	HCT-116	colon:	n/a	n/a
37	CTCF	chr10:116889760-116889910	HVMF	connective:	n/a	n/a
38	CTCF	chr10:116901141-116901257	SK-N-SH_RA	brain:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
39	CTCF	chr10:116901180-116901330	Caco-2	colon:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
40	CTCF	chr10:116936406-116936499	MCF-7	breast:	n/a	n/a
41	CTCF	chr10:116901120-116901270	HMF	breast:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
42	CTCF	chr10:116931180-116931450	NHEK	skin:	n/a	chr10:116931317-116931338 chr10:116931318-116931331 chr10:116931315-116931333 chr10:116931316-116931332
43	CTCF	chr10:116936440-116936590	BE2_C	brain:	n/a	n/a
44	CTCF	chr10:116901056-116901322	SK-N-SH_RA	brain:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
45	CTCF	chr10:116901200-116901350	GM12865	blood:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
46	CTCF	chr10:116889580-116889730	HMF	breast:	n/a	n/a
47	CTCF	chr10:116901160-116901310	GM12873	blood:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
48	CTCF	chr10:116901060-116901210	RPTEC	kidney:	n/a	n/a
49	CTCF	chr10:116901182-116901295	Spleen_OC	spleen:	n/a	chr10:116901207-116901225 chr10:116901209-116901230
50	CTCF	chr10:116901100-116901250	HCM	heart:	n/a	chr10:116901207-116901225 chr10:116901209-116901230

No.	Distal block	Cell Line	Cell type
1	chr10:116900735..116901661-chr10:117176915..117177566,4	MCF-7	breast:
2	chr10:116940963..116942966-chr10:116944377..116947212,2	MCF-7	breast:
3	chr10:116931581..116933131-chr10:116933638..116936531,2	MCF-7	breast:
4	chr10:116931808..116934007-chr10:116939666..116942604,2	MCF-7	breast:
5	chr10:116956281..116959165-chr10:116966788..116968734,2	MCF-7	breast:
6	chr10:116931581..116933131-chr10:116933638..116936531,2	MCF-7	breast:
7	chr10:116940963..116942966-chr10:116944377..116947212,2	MCF-7	breast:
8	chr10:116636495..116637116-chr10:116889645..116890541,2	MCF-7	breast:
9	chr10:116636491..116637413-chr10:116889245..116890241,7	MCF-7	breast:
10	chr10:116931023..116931763-chr10:117176658..117177648,2	MCF-7	breast:
11	chr10:116931050..116931895-chr10:117176966..117177850,3	MCF-7	breast:
12	chr10:116956281..116959165-chr10:116966788..116968734,2	MCF-7	breast:
13	chr10:116931808..116934007-chr10:116939666..116942604,2	MCF-7	breast:

Variant related genes	Relation type
ATRNL1	TF binding region

Extended variants
information (count: 4535 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:4535 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188393256	chr10:116884665-116884666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79820171	chr10:116884724-116884725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562078746	chr10:116884737-116884738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529303146	chr10:116884749-116884750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551030295	chr10:116884771-116884772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180758661	chr10:116884779-116884780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1264782	chr10:116884793-116884794	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs551120998	chr10:116884794-116884795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566333644	chr10:116884802-116884803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533810939	chr10:116884807-116884808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114558607	chr10:116884811-116884812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10885655	chr10:116884819-116884820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs537473459	chr10:116884835-116884836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556212234	chr10:116884852-116884853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549918952	chr10:116884953-116884954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576745683	chr10:116884980-116884981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545124749	chr10:116884984-116884985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146442640	chr10:116885026-116885027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186401629	chr10:116885087-116885088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111532118	chr10:116885089-116885090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191253300	chr10:116885135-116885136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115888530	chr10:116885171-116885172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562271940	chr10:116885176-116885177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376056408	chr10:116885181-116885182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12218477	chr10:116885263-116885264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs80274460	chr10:116885264-116885265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77926670	chr10:116885273-116885274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77095714	chr10:116885274-116885275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74966147	chr10:116885275-116885276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75815891	chr10:116885276-116885277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80220860	chr10:116885277-116885278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533207510	chr10:116885304-116885305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551482016	chr10:116885327-116885328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372217782	chr10:116885415-116885416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558833647	chr10:116885478-116885479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566298921	chr10:116885508-116885509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75439105	chr10:116885517-116885518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568123655	chr10:116885518-116885519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113736973	chr10:116885580-116885581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144722499	chr10:116885582-116885583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183434357	chr10:116885583-116885584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559291928	chr10:116885621-116885622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538701999	chr10:116885648-116885649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151294841	chr10:116885660-116885661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572022998	chr10:116885703-116885704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542545118	chr10:116885719-116885720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573452224	chr10:116885722-116885723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540516895	chr10:116885734-116885735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556017372	chr10:116885737-116885738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574211136	chr10:116885740-116885741	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116866000-116885200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:116884000-116885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:116885000-116886000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr10:116885200-116885800	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr10:116893200-116896000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:116893800-116899400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:116894200-116896000	Weak transcription	Fetal Kidney	kidney
8	chr10:116895600-116896400	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr10:116895600-116909200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:116896000-116896400	ZNF genes & repeats	Fetal Kidney	kidney
11	chr10:116896000-116897200	ZNF genes & repeats	Fetal Brain Female	brain
12	chr10:116896000-116897400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:116897200-116905200	Weak transcription	Fetal Brain Female	brain
14	chr10:116897400-116905000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:116898000-116898200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:116898200-116898800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:116898800-116903200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr10:116903200-116903600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:116903600-116907200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:116905000-116905400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:116907600-116907800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr10:116912000-116925600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:116919800-116925800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:116923600-116924600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr10:116923600-116925800	Weak transcription	Fetal Brain Female	brain
26	chr10:116923800-116924800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr10:116923800-116935600	Weak transcription	Fetal Brain Male	brain
28	chr10:116924200-116924400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:116924400-116927000	Weak transcription	Brain Germinal Matrix	brain
30	chr10:116924400-116936000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:116924600-116927600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr10:116924800-116927200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:116925600-116926600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr10:116925800-116926200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:116925800-116926600	Strong transcription	Fetal Brain Female	brain
36	chr10:116925800-116928400	Weak transcription	Fetal Kidney	kidney
37	chr10:116926600-116933400	Weak transcription	Fetal Brain Female	brain
38	chr10:116926600-116951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:116927200-116930200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr10:116927600-116930000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr10:116930000-116930200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr10:116930200-116931600	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:116931600-116933600	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr10:116932200-116932400	Enhancers	Aorta	Aorta
45	chr10:116932400-116940400	Weak transcription	Aorta	Aorta
46	chr10:116932600-116933000	Enhancers	Fetal Lung	lung
47	chr10:116937000-116939400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr10:116943000-116943400	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr10:116959400-116959600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr10:116964600-116964800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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