Variant report

Variant	nsv5733
Chromosome Location	chr7:48387046-48434029
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	BCL3	chr7:48400193-48400497	GM12878	blood:	n/a	n/a
2	BCL3	chr7:48400134-48400508	GM12878	blood:	n/a	n/a
3	BHLHE40	chr7:48430530-48430791	GM12878	blood:	n/a	n/a
4	CEBPB	chr7:48392408-48392683	HepG2	liver:	n/a	chr7:48392560-48392569 chr7:48392558-48392569
5	CEBPB	chr7:48429601-48429900	MCF-7	breast:	n/a	n/a
6	CEBPB	chr7:48429541-48429870	IMR90	lung:	n/a	n/a
7	CEBPB	chr7:48428785-48428793	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr7:48429446-48429963	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:48423920-48424070	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr7:48391120-48391270	AG09319	gingival:	n/a	n/a
11	CTCF	chr7:48422379-48422519	LNCaP	prostate:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
12	CTCF	chr7:48422280-48422430	GM06990	blood:	n/a	n/a
13	CTCF	chr7:48423920-48424070	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr7:48391227-48391260	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:48391340-48391490	GM12868	blood:	n/a	n/a
16	CTCF	chr7:48422360-48422510	GM12871	blood:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
17	CTCF	chr7:48422200-48422350	NHEK	skin:	n/a	n/a
18	CTCF	chr7:48394820-48394970	GM12869	blood:	n/a	n/a
19	CTCF	chr7:48423920-48424070	NHEK	skin:	n/a	n/a
20	CTCF	chr7:48423900-48424050	HEK293	kidney:	n/a	n/a
21	CTCF	chr7:48416020-48416170	HMF	breast:	n/a	n/a
22	CTCF	chr7:48422400-48422550	MCF-7	breast:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
23	CTCF	chr7:48389297-48389357	NHEK	skin:	n/a	n/a
24	CTCF	chr7:48422431-48422505	NHEK	skin:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
25	CTCF	chr7:48422429-48422505	GM12878	blood:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
26	CTCF	chr7:48422418-48422523	LNCaP	prostate:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
27	CTCF	chr7:48423939-48424041	A549	lung:	n/a	n/a
28	CTCF	chr7:48423904-48424095	NHEK	skin:	n/a	n/a
29	CTCF	chr7:48422400-48422550	HEEpiC	esophagus:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
30	CTCF	chr7:48391060-48391210	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr7:48422320-48422470	SAEC	small airway:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
32	CTCF	chr7:48423860-48424010	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:48422415-48422482	MCF-7	breast:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
34	CTCF	chr7:48423900-48424050	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr7:48391108-48391295	GM12878	blood:	n/a	n/a
36	CTCF	chr7:48422380-48422530	HEK293	kidney:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
37	CTCF	chr7:48391160-48391310	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr7:48422402-48422502	HepG2	liver:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
39	CTCF	chr7:48422406-48422503	MCF-7	breast:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
40	CTCF	chr7:48411402-48411456	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr7:48422460-48422610	A549	lung:	n/a	n/a
42	CTCF	chr7:48422391-48422530	A549	lung:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
43	CTCF	chr7:48423860-48424010	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr7:48422380-48422530	NHEK	skin:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
45	CTCF	chr7:48430220-48430370	GM12866	blood:	n/a	n/a
46	CTCF	chr7:48422396-48422484	Medullo	brain:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
47	CTCF	chr7:48422340-48422490	HepG2	liver:	n/a	chr7:48422444-48422465 chr7:48422447-48422455 chr7:48422443-48422459
48	CTCF	chr7:48423960-48424110	NHEK	skin:	n/a	n/a
49	CTCF	chr7:48423900-48424050	SAEC	small airway:	n/a	n/a
50	CTCF	chr7:48423940-48424090	HEEpiC	esophagus:	n/a	n/a

Variant related genes	Relation type
ABCA13	TF binding region

Extended variants
information (count: 1797 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1797 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532343265	chr7:48387054-48387055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547401522	chr7:48387069-48387070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76022938	chr7:48387079-48387080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551662647	chr7:48387111-48387112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533655500	chr7:48387115-48387116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370854135	chr7:48387131-48387132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566018820	chr7:48387133-48387134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565183261	chr7:48387194-48387195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527456672	chr7:48387215-48387216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62449223	chr7:48387259-48387260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547586676	chr7:48387309-48387310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74952750	chr7:48387383-48387384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536783554	chr7:48387384-48387385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549895150	chr7:48387403-48387404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569989984	chr7:48387502-48387503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185352046	chr7:48387555-48387556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148596560	chr7:48387556-48387557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572418824	chr7:48387590-48387591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534871890	chr7:48387634-48387635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544850925	chr7:48387635-48387636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573650747	chr7:48387702-48387703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542748353	chr7:48387807-48387808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111338269	chr7:48387825-48387826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576062306	chr7:48387849-48387850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142903199	chr7:48387919-48387920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551822224	chr7:48387929-48387930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190161101	chr7:48388030-48388031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182071698	chr7:48388057-48388058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113567529	chr7:48388061-48388062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561174529	chr7:48388128-48388129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529856188	chr7:48388129-48388130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4917084	chr7:48388143-48388144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550199384	chr7:48388149-48388150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554861735	chr7:48388175-48388176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7784325	chr7:48388179-48388180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528167905	chr7:48388215-48388216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369516987	chr7:48388223-48388224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187875475	chr7:48388286-48388287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566010668	chr7:48388334-48388335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376857481	chr7:48388338-48388339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554855414	chr7:48388343-48388344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116305874	chr7:48388354-48388355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190969988	chr7:48388356-48388357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73323762	chr7:48388377-48388378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576222781	chr7:48388477-48388478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545007099	chr7:48388504-48388505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184016868	chr7:48388511-48388512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35262446	chr7:48388543-48388544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540994304	chr7:48388562-48388563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188917600	chr7:48388730-48388731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Abnormal phenotypes	18644119	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48378800-48392800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:48384400-48392600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:48384800-48388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:48387000-48388800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:48387600-48387800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:48388600-48389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:48388800-48391600	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr7:48389200-48389600	Enhancers	Fetal Stomach	stomach
9	chr7:48389400-48393000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:48389600-48390200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:48390200-48392200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr7:48390800-48392600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:48391600-48392000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr7:48392000-48392600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr7:48392200-48392800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:48392600-48392800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr7:48392600-48393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:48392600-48395400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr7:48392800-48393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:48392800-48400600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:48393000-48393800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:48393400-48395000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:48394600-48394800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr7:48395400-48406400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:48398600-48399000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:48399000-48399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:48400600-48403000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:48403000-48409200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:48404400-48406400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:48404600-48404800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:48404600-48406600	Enhancers	HMEC	breast
32	chr7:48404800-48405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:48404800-48406600	Enhancers	NHEK	skin
34	chr7:48405200-48406600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:48405800-48406600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:48406000-48406400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:48406000-48406400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:48406400-48410200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:48406600-48410200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:48409200-48410000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:48410000-48410200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:48410200-48410400	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr7:48410200-48410600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:48410200-48411600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:48410400-48410600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr7:48410600-48410800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:48410600-48411800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:48410800-48411400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:48411000-48427200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:48411400-48411800	Enhancers	Primary monocytes fromperipheralblood	blood

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