Variant report

Variant	nsv980622
Chromosome Location	chr5:28895676-28909101
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	chr5:28896561-28896803	K562	blood:	n/a	n/a
2	CTCF	chr5:28897180-28897330	HBMEC	blood vessel:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
3	CTCF	chr5:28897100-28897250	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:28897160-28897310	HRPEpiC	eye:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
5	CTCF	chr5:28897280-28897430	HAc	cerebellar:	n/a	n/a
6	CTCF	chr5:28903880-28904030	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr5:28897380-28897530	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr5:28897080-28897230	RPTEC	kidney:	n/a	n/a
9	CTCF	chr5:28903904-28903995	LNCaP	prostate:	n/a	n/a
10	CTCF	chr5:28897140-28897290	HepG2	liver:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
11	CTCF	chr5:28897140-28897290	HMEC	breast:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
12	CTCF	chr5:28897200-28897350	HA-sp	spinal cord:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
13	CTCF	chr5:28897160-28897310	Hela-S3	cervix:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
14	CTCF	chr5:28897220-28897370	HCPEpiC	choroid plexus:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
15	CTCF	chr5:28903893-28903996	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr5:28897120-28897270	HRE	kidney:	n/a	n/a
17	CTCF	chr5:28897003-28897619	A549	lung:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
18	CTCF	chr5:28897140-28897290	Hela-S3	cervix:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
19	CTCF	chr5:28903920-28903983	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr5:28897151-28897382	Hela-S3	cervix:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
21	CTCF	chr5:28897148-28897374	Medullo	brain:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
22	CTCF	chr5:28897057-28897512	MCF-7	breast:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
23	CTCF	chr5:28903842-28904069	Medullo	brain:	n/a	n/a
24	CTCF	chr5:28897107-28897390	GM12878	blood:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
25	CTCF	chr5:28897220-28897370	BE2_C	brain:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
26	CTCF	chr5:28897195-28897367	LNCaP	prostate:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
27	CTCF	chr5:28897089-28897365	MCF-7	breast:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
28	CTCF	chr5:28903860-28904010	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr5:28897260-28897410	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr5:28897340-28897490	RPTEC	kidney:	n/a	n/a
31	CTCF	chr5:28903808-28904068	GM12878	blood:	n/a	n/a
32	CTCF	chr5:28896938-28896973	K562	blood:	n/a	n/a
33	CTCF	chr5:28897180-28897330	HCPEpiC	choroid plexus:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
34	CTCF	chr5:28903880-28903989	LNCaP	prostate:	n/a	n/a
35	CTCF	chr5:28897180-28897330	HRPEpiC	eye:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
36	CTCF	chr5:28897198-28897363	LNCaP	prostate:	n/a	chr5:28897255-28897273 chr5:28897250-28897271 chr5:28897256-28897272
37	CTCF	chr5:28903787-28904107	MCF-7	breast:	n/a	n/a
38	CUX1	chr5:28906917-28906932	GM12878	blood:	n/a	n/a
39	JUN	chr5:28899927-28899946	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr5:28907902-28908039	HepG2	liver:	n/a	chr5:28907946-28907957
41	KAP1	chr5:28897359-28897696	K562	blood:	n/a	n/a
42	MAFK	chr5:28899467-28899490	K562	blood:	n/a	n/a
43	MXI1	chr5:28904902-28904908	Hela-S3	cervix:	n/a	n/a
44	NFYB	chr5:28903384-28903571	Hela-S3	cervix:	n/a	n/a
45	NFYB	chr5:28906651-28906757	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr5:28906183-28908777	K562	blood:	n/a	n/a
47	POLR2A	chr5:28903044-28903120	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr5:28909043-28909243	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr5:28899618-28899673	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:28898255-28898314	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:28898397..28901228-chr5:28905919..28907829,2	K562	blood:
2	chr5:28906947..28909506-chr5:29049292..29051622,2	K562	blood:
3	chr5:28779022..28779987-chr5:28896759..28897898,5	MCF-7	breast:
4	chr5:28898397..28901228-chr5:28905919..28907829,2	K562	blood:
5	chr5:28903483..28905347-chr5:28915457..28917454,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-15	chr5:28900872-28902541	NONHSAT100824
2	lnc-CDH9-12	chr5:28897892-28898381	NONHSAT100823

Variant related genes	Relation type
ENSG00000271035	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533591944	chr5:28897401-28897402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140986515	chr5:28897415-28897416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs33923210	chr5:28897448-28897449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397775291	chr5:28897456-28897457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567091664	chr5:28897460-28897461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534514698	chr5:28897475-28897476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555427295	chr5:28897481-28897482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143629238	chr5:28897488-28897489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553258570	chr5:28897563-28897564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115956656	chr5:28897581-28897582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566646330	chr5:28897598-28897599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556272990	chr5:28897607-28897608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377018870	chr5:28897634-28897635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535581820	chr5:28897637-28897638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34876005	chr5:28897647-28897648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555425686	chr5:28897651-28897652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146780993	chr5:28897684-28897685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575752717	chr5:28897708-28897709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554027046	chr5:28897738-28897739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13175378	chr5:28897756-28897757	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs542913784	chr5:28897758-28897759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560842143	chr5:28897774-28897775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576125800	chr5:28897775-28897776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184217325	chr5:28897779-28897780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543345419	chr5:28897803-28897804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188369852	chr5:28897804-28897805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373592178	chr5:28897874-28897875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551640022	chr5:28897882-28897883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560739279	chr5:28897899-28897900	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs527949714	chr5:28897976-28897977	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs191968784	chr5:28898000-28898001	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs183068761	chr5:28898027-28898028	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs312672	chr5:28898032-28898033	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs544275388	chr5:28898058-28898059	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs13189228	chr5:28898078-28898079	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571448776	chr5:28898091-28898092	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs539133239	chr5:28898101-28898102	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs13188965	chr5:28898103-28898104	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113713922	chr5:28898134-28898135	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs187053695	chr5:28898136-28898137	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs191860693	chr5:28898153-28898154	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs576101390	chr5:28898176-28898177	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs543480753	chr5:28898179-28898180	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs564881353	chr5:28898197-28898198	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs576815157	chr5:28898207-28898208	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs545993623	chr5:28898209-28898210	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs559252514	chr5:28898212-28898213	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs560444556	chr5:28898237-28898238	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs140479316	chr5:28898251-28898252	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs17617069	chr5:28898302-28898303	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
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
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
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	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	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28897400-28898600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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