Variant report

Variant	nsv895991
Chromosome Location	chr10:110553362-110622053
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	ATF2	chr10:110609842-110610678	GM12878	blood:	n/a	n/a
2	BATF	chr10:110612032-110612280	GM12878	blood:	n/a	n/a
3	BCL11A	chr10:110609880-110610191	GM12878	blood:	n/a	chr10:110610128-110610137
4	BCL11A	chr10:110611986-110612356	GM12878	blood:	n/a	n/a
5	BCLAF1	chr10:110609849-110610253	GM12878	blood:	n/a	chr10:110610128-110610137
6	BHLHE40	chr10:110609788-110610542	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:110612026-110612357	GM12878	blood:	n/a	n/a
8	CEBPB	chr10:110609104-110609333	HepG2	liver:	n/a	chr10:110609238-110609249
9	CEBPB	chr10:110564468-110564714	HepG2	liver:	n/a	chr10:110564653-110564666 chr10:110564537-110564548
10	CEBPB	chr10:110564460-110564656	A549	lung:	n/a	chr10:110564537-110564548
11	CEBPB	chr10:110611891-110612213	HepG2	liver:	n/a	chr10:110612034-110612045
12	CEBPB	chr10:110609071-110609364	IMR90	lung:	n/a	chr10:110609238-110609249
13	CEBPB	chr10:110569214-110569458	A549	lung:	n/a	chr10:110569345-110569354 chr10:110569345-110569354 chr10:110569343-110569356 chr10:110569343-110569356 chr10:110569345-110569356 chr10:110569345-110569354 chr10:110569343-110569354 chr10:110569340-110569357 chr10:110569345-110569354
14	CEBPB	chr10:110569214-110569485	HepG2	liver:	n/a	chr10:110569345-110569354 chr10:110569345-110569354 chr10:110569343-110569356 chr10:110569343-110569356 chr10:110569345-110569356 chr10:110569345-110569354 chr10:110569343-110569354 chr10:110569340-110569357 chr10:110569345-110569354
15	CHD2	chr10:110609988-110610188	GM12878	blood:	n/a	n/a
16	CTCF	chr10:110574958-110574992	LNCaP	prostate:	n/a	n/a
17	CTCF	chr10:110587860-110587892	LNCaP	prostate:	n/a	n/a
18	CTCF	chr10:110568285-110568387	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr10:110599459-110599481	IMR90	lung:	n/a	n/a
20	CTCF	chr10:110605177-110605253	LNCaP	prostate:	n/a	n/a
21	CUX1	chr10:110609672-110610535	GM12878	blood:	n/a	n/a
22	CUX1	chr10:110612010-110612381	GM12878	blood:	n/a	n/a
23	EBF1	chr10:110596132-110596440	GM12878	blood:	n/a	n/a
24	EBF1	chr10:110609924-110610190	GM12878	blood:	n/a	n/a
25	EBF1	chr10:110611996-110612363	GM12878	blood:	n/a	n/a
26	ELK1	chr10:110609926-110610117	GM12878	blood:	n/a	n/a
27	EP300	chr10:110609998-110610272	GM12878	blood:	n/a	chr10:110610128-110610142 chr10:110610132-110610141 chr10:110610161-110610175
28	EP300	chr10:110561889-110562340	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr10:110577334-110577766	SK-N-SH_RA	brain:	n/a	n/a
30	EP300	chr10:110612055-110612317	GM12878	blood:	n/a	n/a
31	EP300	chr10:110561648-110562336	SK-N-SH	brain:	n/a	chr10:110561842-110561856 chr10:110561846-110561855
32	EP300	chr10:110611947-110612344	GM12878	blood:	n/a	n/a
33	EP300	chr10:110577303-110577726	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr10:110577208-110577888	SK-N-SH	brain:	n/a	chr10:110577852-110577866
35	EP300	chr10:110609955-110610271	GM12878	blood:	n/a	chr10:110610128-110610142 chr10:110610132-110610141 chr10:110610161-110610175
36	EP300	chr10:110577151-110577848	SK-N-SH	brain:	n/a	n/a
37	EP300	chr10:110620832-110621222	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr10:110571979-110572531	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr10:110571821-110572602	SK-N-SH	brain:	n/a	n/a
40	EP300	chr10:110571954-110572512	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr10:110561698-110562400	SK-N-SH	brain:	n/a	chr10:110561842-110561856 chr10:110561846-110561855
42	EP300	chr10:110609932-110610557	GM12878	blood:	n/a	chr10:110610128-110610142 chr10:110610132-110610141 chr10:110610161-110610175
43	EP300	chr10:110620919-110621448	SK-N-SH_RA	brain:	n/a	n/a
44	EP300	chr10:110561938-110562320	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr10:110620266-110622872	SK-N-SH	brain:	n/a	chr10:110620428-110620435 chr10:110622763-110622777
46	EP300	chr10:110571761-110572751	SK-N-SH	brain:	n/a	n/a
47	FOS	chr10:110561124-110561242	MCF10A-Er-Src	breast:	n/a	n/a
48	FOSL2	chr10:110561516-110562324	SK-N-SH	brain:	n/a	chr10:110562028-110562036 chr10:110562027-110562037
49	FOSL2	chr10:110571950-110572597	SK-N-SH	brain:	n/a	n/a
50	FOXM1	chr10:110561771-110562204	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:110600017..110602623-chr19:39936347..39938465,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADD3-3	chr10:110598719-110598850	XLOC_008608
2	lnc-ADD3-3	chr10:110600221-110600418	XLOC_008608
3	lnc-ADD3-11	chr10:110607944-110609319	NONHSAT016310
4	lnc-ADD3-12	chr10:110588701-110589111	NONHSAT016306
5	lnc-ADD3-3	chr10:110598711-110599121	XLOC_008608

Variant related genes	Relation type
MAPKAPK5P1	TF binding region

Extended variants
information (count: 829 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:829 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150966180	chr10:110557415-110557416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140784656	chr10:110557424-110557425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73344725	chr10:110557449-110557450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117601919	chr10:110557457-110557458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546874668	chr10:110557491-110557492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375584031	chr10:110557496-110557497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533588940	chr10:110557500-110557501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543283506	chr10:110557521-110557522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370441533	chr10:110557523-110557524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79301649	chr10:110557539-110557540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75942424	chr10:110557601-110557602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77074489	chr10:110557622-110557623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577978788	chr10:110557639-110557640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543727486	chr10:110557650-110557651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563121116	chr10:110557663-110557664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35275721	chr10:110557670-110557671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528922279	chr10:110557675-110557676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149684946	chr10:110557678-110557679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538118117	chr10:110557756-110557757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117707583	chr10:110557781-110557782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145566309	chr10:110557807-110557808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547547755	chr10:110557836-110557837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370941595	chr10:110557847-110557848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570730395	chr10:110557859-110557860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533444729	chr10:110557867-110557868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373846166	chr10:110557877-110557878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140319707	chr10:110557890-110557891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145609954	chr10:110557900-110557901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186159941	chr10:110557903-110557904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577451326	chr10:110557938-110557939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566144622	chr10:110557939-110557940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535145618	chr10:110557995-110557996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138109495	chr10:110558007-110558008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191875586	chr10:110558010-110558011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538425022	chr10:110558060-110558061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141253816	chr10:110558080-110558081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370063860	chr10:110558084-110558085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557268484	chr10:110558086-110558087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145005965	chr10:110558096-110558097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200320063	chr10:110558107-110558108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74548804	chr10:110558109-110558110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532072992	chr10:110558121-110558122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78902245	chr10:110558132-110558133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546137224	chr10:110558142-110558143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542658867	chr10:110558154-110558155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558935897	chr10:110558188-110558189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12359792	chr10:110558197-110558198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528144518	chr10:110558199-110558200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544741212	chr10:110558200-110558201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564333970	chr10:110558201-110558202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Autism	22495311	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
High-grade prostatic intraepithelial neoplasia	16573809	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
renal hypoplasia	20603712	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:110557400-110557800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr10:110557800-110561600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:110561200-110562000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:110561400-110561800	Enhancers	NHLF	lung
5	chr10:110561600-110562200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:110568200-110568600	Enhancers	Liver	Liver
7	chr10:110571200-110572400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr10:110571600-110573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:110572400-110573400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:110573400-110573800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr10:110574600-110575000	Enhancers	Primary B cells from peripheral blood	blood
12	chr10:110577200-110577600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:110577600-110578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:110588200-110588400	Enhancers	Aorta	Aorta
15	chr10:110597000-110598000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr10:110597200-110597800	Enhancers	Brain Anterior Caudate	brain
17	chr10:110597600-110599000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:110598000-110598400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:110598400-110598800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:110599000-110600800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:110600800-110601000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:110608200-110609000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:110608200-110612800	Enhancers	Primary B cells from peripheral blood	blood
24	chr10:110608800-110609400	Enhancers	GM12878-XiMat	blood
25	chr10:110608800-110611400	Enhancers	Primary B cells from cord blood	blood
26	chr10:110609400-110610000	Flanking Active TSS	GM12878-XiMat	blood
27	chr10:110610000-110610400	Enhancers	GM12878-XiMat	blood
28	chr10:110610400-110611000	Flanking Active TSS	GM12878-XiMat	blood
29	chr10:110611000-110611800	Enhancers	GM12878-XiMat	blood
30	chr10:110611800-110612800	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:110622000-110622600	Enhancers	NH-A	brain

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