Variant report

Variant	nsv5747
Chromosome Location	chr7:53361669-53379389
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	CEBPB	chr7:53370596-53370856	H1-hESC	embryonic stem cell:	n/a	chr7:53370730-53370741 chr7:53370730-53370743
2	CEBPB	chr7:53377863-53378110	HepG2	liver:	n/a	chr7:53377942-53377953
3	CTCF	chr7:53365673-53365698	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:53377579-53377616	GM10248	blood:	n/a	n/a
5	GATA2	chr7:53361458-53361799	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:53369813-53369935	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr7:53361561-53361761	SH-SY5Y	brain:	n/a	n/a
8	GATA3	chr7:53374000-53374074	SH-SY5Y	brain:	n/a	n/a
9	GATA3	chr7:53363940-53364140	SH-SY5Y	brain:	n/a	n/a
10	IRF3	chr7:53362820-53362826	GM12878	blood:	n/a	n/a
11	MAFF	chr7:53363292-53363475	HepG2	liver:	n/a	n/a
12	MXI1	chr7:53372994-53373072	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr7:53373857-53373982	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr7:53365650-53365743	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:53374737-53374794	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:53369592-53369916	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr7:53375612-53375616	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:53368872-53369072	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr7:53362254-53362454	MCF10A-Er-Src	breast:	n/a	n/a
20	RAD21	chr7:53365573-53365773	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr7:53365521-53365847	H1-hESC	embryonic stem cell:	n/a	n/a
22	STAT3	chr7:53366946-53367146	MCF10A-Er-Src	breast:	n/a	chr7:53367083-53367097 chr7:53367085-53367094 chr7:53367086-53367095
23	STAT3	chr7:53376950-53377107	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:53372759..53375444-chr7:53379362..53381261,2	K562	blood:
2	chr7:53372759..53375444-chr7:53379362..53381261,2	K562	blood:

Variant related genes	Relation type
ENSG00000271194	TF binding region

Extended variants
information (count: 780 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:780 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554855577	chr7:53361670-53361671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570796352	chr7:53361671-53361672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543557991	chr7:53361677-53361678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190075045	chr7:53361680-53361681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563777370	chr7:53361683-53361684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112973894	chr7:53361742-53361743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34456955	chr7:53361746-53361747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs397889011	chr7:53361753-53361754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577186180	chr7:53361755-53361756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545768392	chr7:53361766-53361767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11772242	chr7:53361788-53361789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534593533	chr7:53361809-53361810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541678094	chr7:53361874-53361875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561736071	chr7:53361905-53361906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550506958	chr7:53361911-53361912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12673892	chr7:53361949-53361950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34083244	chr7:53361957-53361958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397703939	chr7:53361967-53361968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550418364	chr7:53361969-53361970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539258619	chr7:53362078-53362079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11768720	chr7:53362080-53362081	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370128736	chr7:53362101-53362102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532986644	chr7:53362115-53362116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546617497	chr7:53362120-53362121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566026461	chr7:53362125-53362126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74763873	chr7:53362145-53362146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535348059	chr7:53362229-53362230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115099046	chr7:53362240-53362241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143890109	chr7:53362265-53362266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75131860	chr7:53362289-53362290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553052765	chr7:53362308-53362309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62453981	chr7:53362342-53362343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4311623	chr7:53362395-53362396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552955804	chr7:53362398-53362399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146881198	chr7:53362409-53362410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186682962	chr7:53362433-53362434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561981544	chr7:53362466-53362467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12673526	chr7:53362473-53362474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149020776	chr7:53362537-53362538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574379489	chr7:53362546-53362547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142073284	chr7:53362613-53362614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533050200	chr7:53362646-53362647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546678826	chr7:53362652-53362653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191935880	chr7:53362657-53362658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183734272	chr7:53362671-53362672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548618714	chr7:53362699-53362700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62453982	chr7:53362712-53362713	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537291726	chr7:53362719-53362720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189055934	chr7:53362769-53362770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570668365	chr7:53362787-53362788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53356000-53371200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:53361600-53362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:53367400-53367600	Enhancers	Gastric	stomach
4	chr7:53369800-53370400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:53370000-53370800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr7:53370000-53371000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:53370200-53370600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:53370200-53370600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr7:53370200-53370800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr7:53370600-53379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:53371200-53371800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:53371600-53371800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:53371800-53374600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:53371800-53376200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:53374600-53374800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:53374800-53375000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:53375000-53379000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:53376200-53376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:53376400-53378800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:53378400-53379200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:53378800-53379800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:53379000-53379400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr7:53379000-53379400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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