Variant report

Variant	nsv464469
Chromosome Location	chr7:53518860-53590250
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	chr7:53572607-53572958	HepG2	liver:	n/a	chr7:53572763-53572774
3	CEBPB	chr7:53587746-53588062	IMR90	lung:	n/a	chr7:53587881-53587892
4	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
5	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
6	CEBPB	chr7:53587738-53588025	MCF-7	breast:	n/a	chr7:53587881-53587892
7	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
8	CEBPB	chr7:53587730-53588040	HepG2	liver:	n/a	chr7:53587881-53587892
9	CEBPB	chr7:53572675-53572941	MCF-7	breast:	n/a	chr7:53572763-53572774
10	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
11	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
12	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
13	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
14	CEBPB	chr7:53572631-53572945	IMR90	lung:	n/a	chr7:53572763-53572774
15	CEBPB	chr7:53587750-53588037	A549	lung:	n/a	chr7:53587881-53587892
16	CTCF	chr7:53527926-53528005	GM10248	blood:	n/a	n/a
17	CTCF	chr7:53572240-53572390	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr7:53567920-53568070	HMEC	breast:	n/a	n/a
19	CTCF	chr7:53528060-53528210	AG10803	skin:	n/a	n/a
20	CTCF	chr7:53557364-53557424	GM20000	blood:	n/a	n/a
21	CTCF	chr7:53555705-53555765	GM20000	blood:	n/a	n/a
22	CTCF	chr7:53567900-53568050	HMEC	breast:	n/a	n/a
23	CTCF	chr7:53567860-53568010	HEEpiC	esophagus:	n/a	n/a
24	CTCF	chr7:53563086-53563140	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:53563059-53563122	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr7:53535861-53535883	Medullo	brain:	n/a	n/a
27	E2F4	chr7:53528625-53529062	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr7:53585173-53585491	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr7:53550250-53550450	MCF10A-Er-Src	breast:	n/a	n/a
30	EP300	chr7:53585996-53586415	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr7:53552182-53554835	SK-N-SH	brain:	n/a	n/a
32	EP300	chr7:53542980-53544246	SK-N-SH	brain:	n/a	chr7:53543877-53543891 chr7:53543248-53543262
33	EP300	chr7:53553923-53554274	SK-N-SH_RA	brain:	n/a	n/a
34	EP300	chr7:53553014-53553513	SK-N-SH_RA	brain:	n/a	n/a
35	EP300	chr7:53526008-53528360	SK-N-SH	brain:	n/a	n/a
36	EP300	chr7:53543400-53543696	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr7:53526283-53526700	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr7:53552985-53553537	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr7:53585877-53586768	SK-N-SH_RA	brain:	n/a	chr7:53585989-53585998
40	EP300	chr7:53526200-53526794	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr7:53584948-53586988	SK-N-SH	brain:	n/a	chr7:53585989-53585998 chr7:53585178-53585188
42	EP300	chr7:53543424-53543657	SK-N-SH_RA	brain:	n/a	n/a
43	FOS	chr7:53572680-53573012	MCF10A-Er-Src	breast:	n/a	chr7:53572823-53572832
44	FOS	chr7:53572680-53572974	MCF10A-Er-Src	breast:	n/a	chr7:53572823-53572832
45	FOS	chr7:53572665-53572982	MCF10A-Er-Src	breast:	n/a	chr7:53572823-53572832
46	FOS	chr7:53538066-53538214	MCF10A-Er-Src	breast:	n/a	chr7:53538071-53538080 chr7:53538109-53538121
47	GATA2	chr7:53589370-53589675	SH-SY5Y	brain:	n/a	n/a
48	GATA2	chr7:53553003-53553761	SH-SY5Y	brain:	n/a	n/a
49	GATA2	chr7:53585792-53586890	SH-SY5Y	brain:	n/a	chr7:53585923-53585934 chr7:53586347-53586357
50	GATA3	chr7:53585823-53586468	SK-N-SH	brain:	n/a	chr7:53585923-53585934 chr7:53586347-53586357

No.	Distal block	Cell Line	Cell type
1	chr7:53581265..53583622-chr7:53585126..53587157,2	MCF-7	breast:
2	chr7:53588403..53590353-chr7:53592550..53594897,2	K562	blood:
3	chr7:53581265..53583622-chr7:53585126..53587157,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-6	chr7:53582685-53582969	XLOC_006445
2	lnc-SEC61G-12	chr7:53557841-53558132	NONHSAT120636
3	lnc-SEC61G-6	chr7:53584729-53584809	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: 996 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:996 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2193446	chr7:53518860-53518861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531277041	chr7:53518908-53518909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148035199	chr7:53518913-53518914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2877128	chr7:53518914-53518915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529052615	chr7:53518938-53518939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114104706	chr7:53519004-53519005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78298236	chr7:53519035-53519036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75248065	chr7:53519061-53519062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75220479	chr7:53519069-53519070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76508312	chr7:53519070-53519071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537085143	chr7:53519161-53519162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555810525	chr7:53519168-53519169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146035110	chr7:53519180-53519181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535219530	chr7:53519185-53519186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139986182	chr7:53519215-53519216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578238118	chr7:53519236-53519237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545703759	chr7:53519240-53519241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563889527	chr7:53519243-53519244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575975036	chr7:53519257-53519258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143569426	chr7:53519282-53519283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570179071	chr7:53519313-53519314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190080205	chr7:53519340-53519341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528966884	chr7:53519410-53519411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201744412	chr7:53519412-53519413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530919585	chr7:53519414-53519415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559146612	chr7:53519441-53519442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565753802	chr7:53519443-53519444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150835127	chr7:53519457-53519458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372389285	chr7:53519464-53519465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569880539	chr7:53519468-53519469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537451458	chr7:53519490-53519491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552639763	chr7:53519497-53519498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549149014	chr7:53519517-53519518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374409383	chr7:53519523-53519524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35131742	chr7:53536260-53536261	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs184703267	chr7:53536269-53536270	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568515259	chr7:53536292-53536293	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114253104	chr7:53536321-53536322	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554276730	chr7:53536323-53536324	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566254640	chr7:53536328-53536329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540086047	chr7:53536386-53536387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs558451233	chr7:53536424-53536425	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576811999	chr7:53536452-53536453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs116380036	chr7:53536484-53536485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs115698979	chr7:53536499-53536500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs553038692	chr7:53536507-53536508	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs3059193	chr7:53536533-53536534	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs373376929	chr7:53536534-53536535	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs72473437	chr7:53536535-53536536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574349975	chr7:53536544-53536545	Active TSS	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53518800-53519600	Enhancers	Ovary	ovary
2	chr7:53536200-53536600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:53536600-53540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:53537600-53538400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:53540200-53541400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:53540400-53541200	Enhancers	Placenta	Placenta
7	chr7:53545600-53546000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:53545600-53546800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:53545800-53546200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:53545800-53547200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:53553400-53553800	Enhancers	Fetal Muscle Leg	muscle
12	chr7:53553800-53557800	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:53557800-53559400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:53559200-53559600	Enhancers	HSMMtube	muscle
15	chr7:53559400-53559600	Flanking Active TSS	Fetal Muscle Leg	muscle
16	chr7:53559600-53560200	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:53560200-53560800	Active TSS	Fetal Muscle Leg	muscle
18	chr7:53560400-53561000	Active TSS	Fetal Muscle Trunk	muscle
19	chr7:53560800-53561000	Enhancers	Fetal Muscle Leg	muscle
20	chr7:53567600-53568200	Enhancers	HMEC	breast
21	chr7:53567600-53568400	Enhancers	NHEK	skin
22	chr7:53568600-53569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:53571200-53573200	Enhancers	Placenta	Placenta
24	chr7:53582400-53583400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr7:53587200-53589600	Enhancers	Placenta	Placenta

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