Variant report

Variant	nsv606883
Chromosome Location	chr7:47800014-47802084
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	EP300	chr7:47801845-47805996	SK-N-SH	brain:	n/a	chr7:47802404-47802420 chr7:47804435-47804443 chr7:47802950-47802964
2	JUN	chr7:47801423-47801532	HepG2	liver:	n/a	n/a
3	JUND	chr7:47801359-47801556	HepG2	liver:	n/a	chr7:47801503-47801514
4	POLR2A	chr7:47801838-47803735	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr7:47801502-47801605	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:47802063-47803709	HepG2	liver:	n/a	n/a
7	POLR2A	chr7:47801840-47803796	PANC-1	pancreas:	n/a	n/a
8	TCF12	chr7:47802082-47803907	A549	lung:	n/a	chr7:47802829-47802836

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7orf69-1	chr7:47801074-47801111	ENSG00000146666.4

Variant related genes	Relation type
LINC00525	TF binding region

Extended variants
information (count: 98 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369722185	chr7:47800014-47800015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565383792	chr7:47800032-47800033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573360285	chr7:47800074-47800075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34567379	chr7:47800090-47800091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572535008	chr7:47800095-47800096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35550210	chr7:47800096-47800097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144694670	chr7:47800112-47800113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs66472878	chr7:47800162-47800163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs199927320	chr7:47800163-47800164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550485126	chr7:47800165-47800166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112501011	chr7:47800171-47800172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71546001	chr7:47800199-47800200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10951926	chr7:47800210-47800211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71546002	chr7:47800217-47800218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563616789	chr7:47800242-47800243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140238592	chr7:47800247-47800248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113902045	chr7:47800306-47800307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192073516	chr7:47800322-47800323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34893998	chr7:47800327-47800328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10236357	chr7:47800345-47800346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35916540	chr7:47800382-47800383	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs189015639	chr7:47800389-47800390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558960205	chr7:47800407-47800408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540729748	chr7:47800416-47800417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35412279	chr7:47800417-47800418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397825598	chr7:47800427-47800428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192508170	chr7:47800433-47800434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35527194	chr7:47800460-47800461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34925936	chr7:47800478-47800479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs561212197	chr7:47800505-47800506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575017235	chr7:47800515-47800516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543653159	chr7:47800534-47800535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564018149	chr7:47800562-47800563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138940247	chr7:47800576-47800577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544624881	chr7:47800580-47800581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564565726	chr7:47800601-47800602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13232562	chr7:47800617-47800618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547128830	chr7:47800623-47800624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184484490	chr7:47800624-47800625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111636337	chr7:47800646-47800647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549671884	chr7:47800688-47800689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13232587	chr7:47800737-47800738	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12702380	chr7:47800748-47800749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs189006173	chr7:47800749-47800750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12702381	chr7:47800751-47800752	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143753662	chr7:47800798-47800799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555092993	chr7:47800833-47800834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574793679	chr7:47800838-47800839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13232795	chr7:47800845-47800846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs12702382	chr7:47800870-47800871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:123)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47797800-47802400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:47797800-47802800	Weak transcription	Placenta	Placenta
4	chr7:47798000-47803000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:47798200-47802400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:47798200-47802600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:47798400-47802800	Weak transcription	Fetal Kidney	kidney
8	chr7:47798400-47802800	Weak transcription	Fetal Lung	lung
9	chr7:47798400-47802800	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:47798600-47800400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:47798600-47802000	Weak transcription	NH-A	brain
12	chr7:47798600-47802200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:47798600-47802400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:47798600-47802400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:47798600-47802600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:47798600-47802600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:47798600-47802600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:47798600-47802800	Weak transcription	Adipose Nuclei	Adipose
19	chr7:47798600-47812200	Weak transcription	Aorta	Aorta
20	chr7:47798800-47802600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:47799000-47801400	Weak transcription	NHDF-Ad	bronchial
22	chr7:47799000-47801800	Weak transcription	Hela-S3	cervix
23	chr7:47799000-47802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:47799000-47802200	Weak transcription	Osteobl	bone
25	chr7:47799200-47802400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:47799400-47801000	Weak transcription	HepG2	liver
27	chr7:47799400-47802000	Weak transcription	NHLF	lung
28	chr7:47799400-47802400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:47799400-47802400	Weak transcription	HMEC	breast
30	chr7:47799400-47802400	Weak transcription	HSMM	muscle
31	chr7:47799600-47801200	Weak transcription	A549	lung
32	chr7:47799600-47802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:47799600-47802400	Weak transcription	HSMMtube	muscle
34	chr7:47799800-47801800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:47799800-47802200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr7:47800000-47801000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:47800400-47801400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:47801000-47801400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr7:47801000-47802000	Enhancers	HepG2	liver
40	chr7:47801200-47801400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr7:47801200-47802400	Enhancers	A549	lung
42	chr7:47801400-47803000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr7:47801400-47803800	Enhancers	NHDF-Ad	bronchial
44	chr7:47801800-47802400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:47801800-47802600	Enhancers	Hela-S3	cervix
46	chr7:47801800-47804600	Enhancers	Liver	Liver
47	chr7:47802000-47802600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:47802000-47803000	Flanking Active TSS	HepG2	liver
49	chr7:47802000-47804200	Enhancers	Fetal Intestine Small	intestine
50	chr7:47802000-47804400	Enhancers	NH-A	brain

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