Variant report

Variant	nsv880339
Chromosome Location	chr5:40986084-41034181
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	ARID3A	chr5:40991223-40991942	HepG2	liver:	n/a	n/a
2	ATF1	chr5:41017756-41017959	K562	blood:	n/a	n/a
3	CBX3	chr5:41009262-41009831	HCT-116	colon:	n/a	n/a
4	CEBPB	chr5:41012364-41012837	MCF-7	breast:	n/a	chr5:41012570-41012581 chr5:41012569-41012580
5	CEBPB	chr5:41009306-41009790	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:41009776-41009812	HepG2	liver:	n/a	n/a
7	CEBPB	chr5:41009352-41009947	IMR90	lung:	n/a	chr5:41009818-41009829 chr5:41009816-41009833 chr5:41009817-41009828 chr5:41009817-41009830
8	CEBPB	chr5:40995669-40996006	HepG2	liver:	n/a	chr5:40995835-40995846
9	CEBPB	chr5:40991326-40991871	MCF-7	breast:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
10	CEBPB	chr5:41009321-41009780	MCF-7	breast:	n/a	n/a
11	CEBPB	chr5:41012484-41012646	HepG2	liver:	n/a	chr5:41012570-41012581 chr5:41012569-41012580
12	CEBPB	chr5:41012404-41012753	HepG2	liver:	n/a	chr5:41012570-41012581 chr5:41012569-41012580
13	CEBPB	chr5:40991414-40991648	HepG2	liver:	n/a	chr5:40991525-40991536 chr5:40991524-40991537
14	CEBPB	chr5:41009701-41009949	K562	blood:	n/a	chr5:41009818-41009829 chr5:41009816-41009833 chr5:41009817-41009828 chr5:41009817-41009830
15	CEBPB	chr5:40995724-40995915	K562	blood:	n/a	chr5:40995835-40995846
16	CEBPB	chr5:40991274-40991795	HepG2	liver:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
17	CEBPB	chr5:40995719-40995933	A549	lung:	n/a	chr5:40995835-40995846
18	CEBPB	chr5:40991337-40991938	HepG2	liver:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
19	CEBPB	chr5:40991426-40991834	MCF-7	breast:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
20	CEBPB	chr5:40991361-40991926	IMR90	lung:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
21	CEBPB	chr5:40991296-40991882	HepG2	liver:	n/a	chr5:40991525-40991536 chr5:40991767-40991780 chr5:40991524-40991537
22	CEBPB	chr5:41012315-41012889	MCF-7	breast:	n/a	chr5:41012570-41012581 chr5:41012569-41012580
23	CEBPD	chr5:40991391-40991678	HepG2	liver:	n/a	chr5:40991525-40991536
24	CTCF	chr5:40991600-40991750	AG09319	gingival:	n/a	n/a
25	CTCF	chr5:41022800-41022950	NB4	blood:	n/a	n/a
26	CTCF	chr5:41022881-41022953	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:41022840-41022990	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:41022840-41022969	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr5:41022890-41022939	HepG2	liver:	n/a	n/a
30	CTCF	chr5:40991720-40991870	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr5:41022840-41022990	HCT-116	colon:	n/a	n/a
32	CTCF	chr5:40991660-40991810	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr5:41012460-41012610	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr5:41022852-41022999	LNCaP	prostate:	n/a	n/a
35	CTCF	chr5:41022860-41023010	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr5:41022861-41022952	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:41022800-41022950	HEK293	kidney:	n/a	n/a
38	CTCF	chr5:41022820-41022970	K562	blood:	n/a	n/a
39	CTCF	chr5:41022599-41023123	K562	blood:	n/a	n/a
40	CTCF	chr5:40991540-40991690	HCM	heart:	n/a	n/a
41	CTCF	chr5:41022820-41022970	HepG2	liver:	n/a	n/a
42	CTCF	chr5:41000180-41000330	GM12867	blood:	n/a	n/a
43	CTCF	chr5:41022780-41022930	GM12873	blood:	n/a	n/a
44	CTCF	chr5:41022820-41022970	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:41011787-41011831	GM20000	blood:	n/a	n/a
46	CTCF	chr5:41022846-41022933	K562	blood:	n/a	n/a
47	CTCF	chr5:41022820-41022970	GM12875	blood:	n/a	n/a
48	CTCF	chr5:41022848-41022953	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:41008620-41008770	WI-38	lung:	n/a	n/a
50	CTCF	chr5:41000800-41000950	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:40999893..41001799-chr5:41007806..41010724,2	MCF-7	breast:
2	chr5:40989247..40991997-chr5:41008432..41010660,2	MCF-7	breast:
3	chr5:40987621..40990606-chr5:40992275..40995928,3	K562	blood:
4	chr14:34145234..34145904-chr5:41018772..41019611,2	MCF-7	breast:
5	chr5:41012517..41014184-chr5:41018460..41021198,2	MCF-7	breast:
6	chr5:40982776..40984808-chr5:40985903..40987745,2	MCF-7	breast:
7	chr5:40987621..40990606-chr5:40992275..40995928,3	K562	blood:
8	chr5:41012517..41014184-chr5:41018460..41021198,2	MCF-7	breast:
9	chr5:40832331..40835954-chr5:41008013..41011507,3	MCF-7	breast:
10	chr5:40989247..40991997-chr5:41008432..41010660,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C7-1	chr5:41020083-41020228	NONHSAT101170
2	lnc-C7-1	chr5:41015836-41016049	NONHSAT101170

Variant related genes	Relation type
MROH2B	TF binding region
ENSG00000212296	chromatin interactions
ENSG00000171495	chromatin interactions
ENSG00000145592	chromatin interactions

Extended variants
information (count: 1296 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13161930	chr5:40986084-40986085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576895876	chr5:40986106-40986107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142954430	chr5:40986151-40986152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372662772	chr5:40986152-40986153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375697201	chr5:40986196-40986197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151114031	chr5:40986204-40986205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1450651	chr5:40986211-40986212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371503379	chr5:40986223-40986224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548458715	chr5:40986231-40986232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560196224	chr5:40986247-40986248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527472751	chr5:40986258-40986259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185051860	chr5:40986297-40986298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571691460	chr5:40986323-40986324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1450652	chr5:40986369-40986370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73750218	chr5:40986374-40986375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74998541	chr5:40986462-40986463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367923755	chr5:40986521-40986522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536245641	chr5:40986568-40986569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188795707	chr5:40986576-40986577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573497685	chr5:40986630-40986631	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs534398287	chr5:40986633-40986634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567609498	chr5:40986651-40986652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs376984632	chr5:40986658-40986659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577530668	chr5:40986709-40986710	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544298842	chr5:40986713-40986714	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531986894	chr5:40986751-40986752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537305543	chr5:40986785-40986786	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs74802737	chr5:40986795-40986796	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114249529	chr5:40986805-40986806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs191731987	chr5:40986829-40986830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs560393772	chr5:40986872-40986873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs72751608	chr5:40986909-40986910	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75410152	chr5:40986922-40986923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs12659442	chr5:40986930-40986931	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114371289	chr5:40986940-40986941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188284714	chr5:40986941-40986942	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569016748	chr5:40986976-40986977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530026348	chr5:40987062-40987063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs548338564	chr5:40987082-40987083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs141069879	chr5:40987101-40987102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs534193803	chr5:40987120-40987121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs180685090	chr5:40987247-40987248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs571014154	chr5:40987294-40987295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538450978	chr5:40987299-40987300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs556285579	chr5:40987308-40987309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538741138	chr5:40987337-40987338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574634145	chr5:40987340-40987341	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs541788326	chr5:40987357-40987358	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs2122564	chr5:40987374-40987375	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145006979	chr5:40987375-40987376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40931200-40992200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:40931800-40991000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:40960400-40989600	Weak transcription	Left Ventricle	heart
4	chr5:40968200-40990400	Weak transcription	Fetal Intestine Large	intestine
5	chr5:40979400-40991000	Weak transcription	Fetal Kidney	kidney
6	chr5:40981000-40988800	Weak transcription	Lung	lung
7	chr5:40982000-40991800	Weak transcription	Spleen	Spleen
8	chr5:40983000-40986200	Enhancers	HMEC	breast
9	chr5:40983200-40986200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:40983600-40986600	Weak transcription	Fetal Lung	lung
11	chr5:40983800-40986200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:40983800-40986200	Enhancers	NH-A	brain
13	chr5:40984200-40990400	Weak transcription	Ovary	ovary
14	chr5:40985000-40989000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:40985000-40990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:40985600-40986200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:40985600-40990400	Weak transcription	Osteobl	bone
18	chr5:40986000-40988800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:40986200-40988600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:40986200-40988800	Weak transcription	NH-A	brain
21	chr5:40986600-40987400	ZNF genes & repeats	Fetal Lung	lung
22	chr5:40987400-40990400	Weak transcription	Fetal Lung	lung
23	chr5:40988600-40989800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:40988600-40991000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:40988800-40989000	Enhancers	Lung	lung
26	chr5:40988800-40989200	Enhancers	NH-A	brain
27	chr5:40988800-40989400	Active TSS	Liver	Liver
28	chr5:40988800-40989800	Enhancers	NHEK	skin
29	chr5:40988800-40990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:40988800-40990000	Enhancers	HMEC	breast
31	chr5:40988800-40992400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:40988800-40993400	Enhancers	HepG2	liver
33	chr5:40989000-40989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:40989000-40990600	Enhancers	Placenta	Placenta
35	chr5:40989000-40991000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:40989000-40992600	Weak transcription	Lung	lung
37	chr5:40989200-40990400	Weak transcription	NH-A	brain
38	chr5:40989400-40989800	Flanking Active TSS	Liver	Liver
39	chr5:40989600-40989800	Enhancers	Left Ventricle	heart
40	chr5:40989600-40990400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:40989800-40990400	Weak transcription	Left Ventricle	heart
42	chr5:40989800-40991200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:40989800-40992200	Enhancers	Liver	Liver
44	chr5:40990000-40990400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:40990000-40990600	Weak transcription	HMEC	breast
46	chr5:40990200-40991000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:40990200-40991600	Enhancers	NHDF-Ad	bronchial
48	chr5:40990200-40991800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:40990200-40994800	Enhancers	Adipose Nuclei	Adipose
50	chr5:40990400-40990600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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