Variant report

Variant	nsv1018009
Chromosome Location	chr7:53394871-53446759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:254)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:53408869-53409149	IMR90	lung:	n/a	chr7:53409007-53409018
2	CEBPB	chr7:53432896-53433292	MCF-7	breast:	n/a	n/a
3	CEBPB	chr7:53437537-53437772	HepG2	liver:	n/a	chr7:53437678-53437691 chr7:53437679-53437690
4	CEBPB	chr7:53408853-53409171	HepG2	liver:	n/a	chr7:53409007-53409018
5	CEBPB	chr7:53432286-53432571	HepG2	liver:	n/a	chr7:53432454-53432465 chr7:53432423-53432434
6	CTCF	chr7:53418084-53418172	GM19239	blood:	n/a	n/a
7	CTCF	chr7:53426080-53426230	HEK293	kidney:	n/a	n/a
8	CTCF	chr7:53417981-53418258	T-47D	breast:	n/a	n/a
9	CTCF	chr7:53418040-53418190	GM12866	blood:	n/a	n/a
10	CTCF	chr7:53418000-53418150	GM12872	blood:	n/a	n/a
11	CTCF	chr7:53418060-53418210	GM12873	blood:	n/a	n/a
12	CTCF	chr7:53418060-53418210	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr7:53418060-53418210	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr7:53418100-53418250	GM12873	blood:	n/a	n/a
15	CTCF	chr7:53418003-53418250	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:53418060-53418210	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr7:53418040-53418190	HAc	cerebellar:	n/a	n/a
18	CTCF	chr7:53418080-53418230	HMF	breast:	n/a	n/a
19	CTCF	chr7:53418040-53418190	GM12871	blood:	n/a	n/a
20	CTCF	chr7:53418000-53418150	HVMF	connective:	n/a	n/a
21	CTCF	chr7:53418040-53418190	GM12870	blood:	n/a	n/a
22	CTCF	chr7:53426160-53426310	HRE	kidney:	n/a	n/a
23	CTCF	chr7:53418120-53418270	HRE	kidney:	n/a	n/a
24	CTCF	chr7:53418220-53418370	HFF-Myc	foreskin:	n/a	n/a
25	CTCF	chr7:53426144-53426186	LNCaP	prostate:	n/a	n/a
26	CTCF	chr7:53417991-53418268	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:53418040-53418190	GM12868	blood:	n/a	n/a
28	CTCF	chr7:53417997-53418243	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr7:53418060-53418210	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:53418060-53418210	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr7:53418060-53418210	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr7:53418060-53418210	HCT-116	colon:	n/a	n/a
33	CTCF	chr7:53418080-53418230	HepG2	liver:	n/a	n/a
34	CTCF	chr7:53418003-53418249	GM12891	blood:	n/a	n/a
35	CTCF	chr7:53426116-53426252	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:53417926-53418329	GM12878	blood:	n/a	n/a
37	CTCF	chr7:53418060-53418210	BE2_C	brain:	n/a	n/a
38	CTCF	chr7:53426140-53426290	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:53418080-53418230	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr7:53418080-53418230	NHEK	skin:	n/a	n/a
41	CTCF	chr7:53426180-53426330	RPTEC	kidney:	n/a	n/a
42	CTCF	chr7:53426140-53426290	A549	lung:	n/a	n/a
43	CTCF	chr7:53417918-53418273	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr7:53417850-53417899	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:53418051-53418187	GM13976	blood:	n/a	n/a
46	CTCF	chr7:53426060-53426210	HUVEC	blood vessel:	n/a	n/a
47	CTCF	chr7:53418040-53418190	RPTEC	kidney:	n/a	n/a
48	CTCF	chr7:53418080-53418230	SAEC	small airway:	n/a	n/a
49	CTCF	chr7:53418018-53418218	GM19238	blood:	n/a	n/a
50	CTCF	chr7:53418080-53418230	GM12874	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:53417753..53418714-chr7:54732235..54733019,3	MCF-7	breast:
2	chr7:53440139..53442287-chr7:53444229..53445943,2	MCF-7	breast:
3	chr7:53440139..53442287-chr7:53444229..53445943,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC61G-7	chr7:53433793-53433894	NONHSAT120630
2	lnc-SEC61G-7	chr7:53428227-53428251	NONHSAT120626
3	lnc-SEC61G-7	chr7:53428227-53428251	NONHSAT120627
4	lnc-SEC61G-7	chr7:53433793-53433894	NONHSAT120631
5	lnc-SEC61G-7	chr7:53428227-53428251	NONHSAT120628

No data

Variant related genes	Relation type
RNU1-14P	TF binding region

Extended variants
information (count: 1059 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:1059 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536176783	chr7:53394906-53394907	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs114813874	chr7:53394914-53394915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs538528257	chr7:53394924-53394925	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191947771	chr7:53394942-53394943	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538455472	chr7:53394943-53394944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs183749497	chr7:53394952-53394953	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73378330	chr7:53394959-53394960	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs118027491	chr7:53394976-53394977	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs144287168	chr7:53394990-53394991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369721124	chr7:53394995-53394996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs189084686	chr7:53395025-53395026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193139045	chr7:53395034-53395035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73378333	chr7:53395059-53395060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs80305537	chr7:53395074-53395075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142051690	chr7:53395076-53395077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115159363	chr7:53395091-53395092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199569738	chr7:53395092-53395093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529975919	chr7:53395139-53395140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377513005	chr7:53395140-53395141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565450245	chr7:53395144-53395145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527812336	chr7:53395180-53395181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73378335	chr7:53395229-53395230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567363769	chr7:53395230-53395231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186893278	chr7:53395247-53395248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11972859	chr7:53395279-53395280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7803084	chr7:53395284-53395285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560802754	chr7:53395299-53395300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543516379	chr7:53395319-53395320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191724085	chr7:53395321-53395322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558497703	chr7:53395362-53395363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372935763	chr7:53395369-53395370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184233166	chr7:53395387-53395388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187415022	chr7:53395403-53395404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193156813	chr7:53395406-53395407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142410937	chr7:53395498-53395499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543454976	chr7:53395512-53395513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563242192	chr7:53395551-53395552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151318286	chr7:53395640-53395641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531672136	chr7:53395684-53395685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13242439	chr7:53395721-53395722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564235456	chr7:53395752-53395753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533784266	chr7:53395818-53395819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527877324	chr7:53395855-53395856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11983128	chr7:53396025-53396026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185405841	chr7:53396026-53396027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190605582	chr7:53396032-53396033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182327312	chr7:53396035-53396036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528036773	chr7:53396039-53396040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532336701	chr7:53396071-53396072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552435965	chr7:53396100-53396101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53382800-53404000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53393400-53395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr7:53394000-53395000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:53394200-53395000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:53394600-53395000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:53394600-53395000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:53394600-53395000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:53394600-53395000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:53394800-53395000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:53395000-53395200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:53395000-53395200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:53404000-53404200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:53404400-53405000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:53405200-53412400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:53405400-53406200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr7:53408600-53408800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr7:53409000-53409200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr7:53417800-53418200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:53417800-53418600	Enhancers	Placenta	Placenta
20	chr7:53418600-53420200	Weak transcription	Placenta	Placenta
21	chr7:53420200-53420600	Enhancers	Placenta	Placenta
22	chr7:53426200-53426800	Enhancers	Fetal Heart	heart
23	chr7:53442200-53443000	Enhancers	HUVEC	blood vessel
24	chr7:53444600-53444800	Enhancers	HUVEC	blood vessel
25	chr7:53445400-53445800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:53445800-53447400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:53446600-53447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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