Variant report

Variant	nsv607018
Chromosome Location	chr7:53490827-53590250
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	BRCA1	chr7:53587799-53587809	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:53572631-53572945	IMR90	lung:	n/a	chr7:53572763-53572774
3	CEBPB	chr7:53587746-53588062	IMR90	lung:	n/a	chr7:53587881-53587892
4	CEBPB	chr7:53572675-53572941	MCF-7	breast:	n/a	chr7:53572763-53572774
5	CEBPB	chr7:53530516-53530859	K562	blood:	n/a	chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530706 chr7:53530697-53530706
6	CEBPB	chr7:53501299-53501500	IMR90	lung:	n/a	chr7:53501375-53501386
7	CEBPB	chr7:53588410-53588727	HepG2	liver:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
8	CEBPB	chr7:53587750-53588037	A549	lung:	n/a	chr7:53587881-53587892
9	CEBPB	chr7:53501280-53501444	K562	blood:	n/a	chr7:53501375-53501386
10	CEBPB	chr7:53530536-53530863	HepG2	liver:	n/a	chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530706 chr7:53530697-53530706
11	CEBPB	chr7:53587730-53588040	HepG2	liver:	n/a	chr7:53587881-53587892
12	CEBPB	chr7:53587738-53588025	MCF-7	breast:	n/a	chr7:53587881-53587892
13	CEBPB	chr7:53530560-53530856	H1-hESC	embryonic stem cell:	n/a	chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530706 chr7:53530697-53530706
14	CEBPB	chr7:53588391-53589005	A549	lung:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
15	CEBPB	chr7:53572607-53572958	HepG2	liver:	n/a	chr7:53572763-53572774
16	CEBPB	chr7:53501208-53501545	HepG2	liver:	n/a	chr7:53501375-53501386
17	CEBPB	chr7:53505120-53505352	Hela-S3	cervix:	n/a	chr7:53505251-53505262
18	CEBPB	chr7:53588393-53588685	Hela-S3	cervix:	n/a	chr7:53588550-53588561 chr7:53588550-53588563 chr7:53588558-53588571 chr7:53588558-53588571 chr7:53588552-53588561 chr7:53588552-53588563
19	CEBPB	chr7:53530548-53530869	IMR90	lung:	n/a	chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530708 chr7:53530697-53530706 chr7:53530695-53530706 chr7:53530697-53530706
20	CEBPB	chr7:53505078-53505387	HepG2	liver:	n/a	chr7:53505251-53505262
21	CEBPB	chr7:53502040-53502264	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr7:53501358-53501394	H1-hESC	embryonic stem cell:	n/a	chr7:53501375-53501386
23	CTCF	chr7:53572240-53572390	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr7:53494172-53494333	Gliobla	brain:	n/a	n/a
25	CTCF	chr7:53497900-53498050	HPF	lung:	n/a	n/a
26	CTCF	chr7:53567920-53568070	HMEC	breast:	n/a	n/a
27	CTCF	chr7:53494120-53494270	GM12864	blood:	n/a	n/a
28	CTCF	chr7:53494240-53494390	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr7:53494252-53494288	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr7:53494200-53494350	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr7:53563086-53563140	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr7:53494120-53494270	BE2_C	brain:	n/a	n/a
33	CTCF	chr7:53563059-53563122	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr7:53494260-53494410	RPTEC	kidney:	n/a	n/a
35	CTCF	chr7:53502289-53502325	Fibrobl	skin:	n/a	n/a
36	CTCF	chr7:53494240-53494390	MCF-7	breast:	n/a	n/a
37	CTCF	chr7:53527926-53528005	GM10248	blood:	n/a	n/a
38	CTCF	chr7:53516240-53516390	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:53498727-53498761	GM13977	blood:	n/a	n/a
40	CTCF	chr7:53555705-53555765	GM20000	blood:	n/a	n/a
41	CTCF	chr7:53494200-53494350	HAc	cerebellar:	n/a	n/a
42	CTCF	chr7:53567900-53568050	HMEC	breast:	n/a	n/a
43	CTCF	chr7:53494180-53494330	RPTEC	kidney:	n/a	n/a
44	CTCF	chr7:53535861-53535883	Medullo	brain:	n/a	n/a
45	CTCF	chr7:53494240-53494390	HRE	kidney:	n/a	n/a
46	CTCF	chr7:53557364-53557424	GM20000	blood:	n/a	n/a
47	CTCF	chr7:53528060-53528210	AG10803	skin:	n/a	n/a
48	CTCF	chr7:53567860-53568010	HEEpiC	esophagus:	n/a	n/a
49	E2F4	chr7:53505200-53505247	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:53528625-53529062	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:53499272..53501434-chr7:53507043..53509851,2	K562	blood:
2	chr7:53480788..53483198-chr7:53496726..53498453,2	K562	blood:
3	chr7:53499272..53501434-chr7:53507043..53509851,2	K562	blood:
4	chr7:53581265..53583622-chr7:53585126..53587157,2	MCF-7	breast:
5	chr7:53263027..53265803-chr7:53508163..53510506,2	K562	blood:
6	chr7:53581265..53583622-chr7:53585126..53587157,2	MCF-7	breast:
7	chr7:53588403..53590353-chr7:53592550..53594897,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-12	chr7:53557841-53558132	NONHSAT120636
2	lnc-SEC61G-6	chr7:53584729-53584809	XLOC_006445
3	lnc-SEC61G-6	chr7:53582685-53582969	XLOC_006445

Variant related genes	Relation type
RN7SKP218	TF binding region
ENSG00000234105	TF binding region
DIEXF	miRNA target sites
DICER1	miRNA target sites

Extended variants
information (count: 1481 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1481 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10252791	chr7:53490827-53490828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192786478	chr7:53490910-53490911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561169648	chr7:53490948-53490949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10224527	chr7:53490952-53490953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs34834930	chr7:53490959-53490960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185121577	chr7:53490972-53490973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141853170	chr7:53490980-53490981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367730511	chr7:53490981-53490982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551250879	chr7:53490984-53490985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569583573	chr7:53490995-53490996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147114474	chr7:53490999-53491000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570649110	chr7:53491004-53491005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548961086	chr7:53491005-53491006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377277034	chr7:53491008-53491009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368045526	chr7:53491014-53491015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574685770	chr7:53491053-53491054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570098857	chr7:53491081-53491082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148575909	chr7:53491082-53491083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552667223	chr7:53491101-53491102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571062208	chr7:53491124-53491125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538455246	chr7:53491146-53491147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140107113	chr7:53491157-53491158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575489265	chr7:53491160-53491161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10243044	chr7:53491166-53491167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554931691	chr7:53491167-53491168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573170142	chr7:53491180-53491181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10239879	chr7:53491210-53491211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565383660	chr7:53491247-53491248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532715056	chr7:53491260-53491261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544812037	chr7:53491293-53491294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562987197	chr7:53491377-53491378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554018986	chr7:53491385-53491386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568700860	chr7:53491459-53491460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181836452	chr7:53491523-53491524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560906163	chr7:53491576-53491577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528077053	chr7:53491578-53491579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546247238	chr7:53491584-53491585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571000535	chr7:53491592-53491593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75938422	chr7:53491632-53491633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571767904	chr7:53491633-53491634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11432240	chr7:53491634-53491635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60730835	chr7:53491648-53491649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375347979	chr7:53491649-53491650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558717101	chr7:53491671-53491672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577346032	chr7:53491723-53491724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs137970963	chr7:53491739-53491740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548564596	chr7:53491748-53491749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149494694	chr7:53491805-53491806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572291374	chr7:53491830-53491831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184970951	chr7:53491838-53491839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53489200-53493800	Weak transcription	Liver	Liver
2	chr7:53493800-53494400	Active TSS	Liver	Liver
3	chr7:53493800-53494400	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:53493800-53494400	Active TSS	Hela-S3	cervix
5	chr7:53494000-53494400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:53494000-53494400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:53494000-53494600	Active TSS	Brain Anterior Caudate	brain
8	chr7:53494000-53494600	Active TSS	Brain Hippocampus Middle	brain
9	chr7:53494200-53494600	Active TSS	Brain Angular Gyrus	brain
10	chr7:53494200-53494600	Enhancers	Placenta	Placenta
11	chr7:53494400-53494600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:53494400-53495000	Enhancers	Liver	Liver
13	chr7:53495000-53495400	Weak transcription	Liver	Liver
14	chr7:53495400-53496000	Enhancers	Liver	Liver
15	chr7:53504800-53505800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:53505000-53505400	Enhancers	Placenta	Placenta
17	chr7:53513600-53514000	Enhancers	Liver	Liver
18	chr7:53513800-53514600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:53513800-53514600	Enhancers	Ovary	ovary
20	chr7:53514000-53514400	Flanking Active TSS	Liver	Liver
21	chr7:53514400-53514600	Enhancers	Liver	Liver
22	chr7:53514400-53515200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:53514600-53517200	Weak transcription	Ovary	ovary
24	chr7:53517200-53517800	Enhancers	Ovary	ovary
25	chr7:53517800-53518800	Weak transcription	Ovary	ovary
26	chr7:53518800-53519600	Enhancers	Ovary	ovary
27	chr7:53536200-53536600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:53536600-53540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:53537600-53538400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:53540200-53541400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:53540400-53541200	Enhancers	Placenta	Placenta
32	chr7:53545600-53546000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:53545600-53546800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:53545800-53546200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:53545800-53547200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:53553400-53553800	Enhancers	Fetal Muscle Leg	muscle
37	chr7:53553800-53557800	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:53557800-53559400	Enhancers	Fetal Muscle Leg	muscle
39	chr7:53559200-53559600	Enhancers	HSMMtube	muscle
40	chr7:53559400-53559600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr7:53559600-53560200	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:53560200-53560800	Active TSS	Fetal Muscle Leg	muscle
43	chr7:53560400-53561000	Active TSS	Fetal Muscle Trunk	muscle
44	chr7:53560800-53561000	Enhancers	Fetal Muscle Leg	muscle
45	chr7:53567600-53568200	Enhancers	HMEC	breast
46	chr7:53567600-53568400	Enhancers	NHEK	skin
47	chr7:53568600-53569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:53571200-53573200	Enhancers	Placenta	Placenta
49	chr7:53582400-53583400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr7:53587200-53589600	Enhancers	Placenta	Placenta

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