Variant report

Variant	nsv1029505
Chromosome Location	chr5:28556453-28655445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:339)
CpG islands
(count:62)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:28629799-28629979	K562	blood:	n/a	n/a
2	ATF1	chr5:28633929-28634173	K562	blood:	n/a	n/a
3	BHLHE40	chr5:28636212-28636238	GM12878	blood:	n/a	n/a
4	CCNT2	chr5:28585631-28585761	K562	blood:	n/a	n/a
5	CEBPB	chr5:28623857-28624057	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:28585069-28585342	HepG2	liver:	n/a	chr5:28585203-28585214 chr5:28585136-28585147
7	CEBPB	chr5:28583068-28583086	K562	blood:	n/a	n/a
8	CEBPB	chr5:28635196-28635424	Hela-S3	cervix:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
9	CEBPB	chr5:28635154-28635436	A549	lung:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
10	CEBPB	chr5:28635207-28635437	K562	blood:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
11	CEBPB	chr5:28635155-28635484	HepG2	liver:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
12	CEBPB	chr5:28584953-28585329	Hela-S3	cervix:	n/a	chr5:28585203-28585214 chr5:28585136-28585147
13	CTCF	chr5:28576220-28576370	GM12878	blood:	n/a	n/a
14	CTCF	chr5:28576291-28576391	ProgFib	skin:	n/a	n/a
15	CTCF	chr5:28576242-28576437	LNCaP	prostate:	n/a	n/a
16	CTCF	chr5:28576221-28576457	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:28576280-28576430	HepG2	liver:	n/a	n/a
18	CTCF	chr5:28576200-28576350	HCM	heart:	n/a	n/a
19	CTCF	chr5:28576200-28576350	HPF	lung:	n/a	n/a
20	CTCF	chr5:28576220-28576370	SAEC	small airway:	n/a	n/a
21	CTCF	chr5:28648340-28648490	HEEpiC	esophagus:	n/a	n/a
22	CTCF	chr5:28648300-28648450	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr5:28576263-28576419	Medullo	brain:	n/a	n/a
24	CTCF	chr5:28576280-28576430	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr5:28576288-28576401	GM13977	blood:	n/a	n/a
26	CTCF	chr5:28648360-28648510	HA-sp	spinal cord:	n/a	n/a
27	CTCF	chr5:28576260-28576410	HMEC	breast:	n/a	n/a
28	CTCF	chr5:28633960-28634110	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr5:28573434-28573478	GM13976	blood:	n/a	n/a
30	CTCF	chr5:28576240-28576390	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:28648300-28648450	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr5:28633960-28634110	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:28648320-28648470	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr5:28576260-28576410	AG04449	skin:	n/a	n/a
35	CTCF	chr5:28648300-28648450	MCF-7	breast:	n/a	n/a
36	CTCF	chr5:28648320-28648470	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr5:28576300-28576450	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr5:28576129-28576478	A549	lung:	n/a	n/a
39	CTCF	chr5:28576300-28576450	NHLF	lung:	n/a	n/a
40	CTCF	chr5:28648300-28648450	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr5:28648280-28648430	HCPEpiC	choroid plexus:	n/a	n/a
42	CTCF	chr5:28576280-28576430	HCFaa	heart:	n/a	n/a
43	CTCF	chr5:28580840-28580990	HCM	heart:	n/a	n/a
44	CTCF	chr5:28576320-28576470	HEEpiC	esophagus:	n/a	n/a
45	CTCF	chr5:28577727-28577751	GM20000	blood:	n/a	n/a
46	CTCF	chr5:28648360-28648510	RPTEC	kidney:	n/a	n/a
47	CTCF	chr5:28633920-28634070	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr5:28648360-28648510	HAc	cerebellar:	n/a	n/a
49	CTCF	chr5:28576240-28576390	HepG2	liver:	n/a	n/a
50	CTCF	chr5:28633860-28634010	K562	blood:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:28596874-28596924	MCF10A-Er-Src	breast:	n/a
2	chr5:28596874-28596924	MCF10A-Er-Src	breast:	n/a
3	chr5:28596874-28596924	NHDF-neo	bronchial:	n/a
4	chr5:28596874-28596924	ProgFib	skin:	n/a
5	chr5:28596874-28596924	NT2-D1	testis:	n/a
6	chr5:28596874-28596924	BJ	skin:	n/a
7	chr5:28596874-28596924	IMR90	lung:	fetal
8	chr5:28596874-28596924	SK-N-SH_RA	brain:	n/a
9	chr5:28596874-28596924	MCF-7	breast:	n/a
10	chr5:28596874-28596924	H1-hESC	embryonic stem cell:	embryo
11	chr5:28596874-28596924	NHBE	bronchial:	n/a
12	chr5:28596874-28596924	HAEpiC	amniotic membrane:	n/a
13	chr5:28596874-28596924	Jurkat	blood:	n/a
14	chr5:28596874-28596924	K562	blood:	n/a
15	chr5:28596874-28596924	HNPCEpiC	eye:	n/a
16	chr5:28596874-28596924	AG04449	skin:	fetal
17	chr5:28596874-28596924	BE2_C	brain:	n/a
18	chr5:28596874-28596924	RPTEC	kidney:	n/a
19	chr5:28596874-28596924	HEEpiC	esophagus:	n/a
20	chr5:28596874-28596924	GM12891	blood:	n/a
21	chr5:28596874-28596924	NH-A	brain:	n/a
22	chr5:28596874-28596924	AG04450	lung:	fetal
23	chr5:28596874-28596924	CMK	blood:	n/a
24	chr5:28596874-28596924	T-47D	breast:	n/a
25	chr5:28596874-28596924	SK-N-SH	brain:	n/a
26	chr5:28596874-28596924	AG09319	gingival:	n/a
27	chr5:28596874-28596924	ECC-1	luminal epithelium:	n/a
28	chr5:28596874-28596924	GM12878	blood:	n/a
29	chr5:28596874-28596924	GM19239	blood:	n/a
30	chr5:28596874-28596924	LNCaP	prostate:	n/a
31	chr5:28596874-28596924	HCPEpiC	choroid plexus:	n/a
32	chr5:28596874-28596924	U87	brain:	n/a
33	chr5:28596874-28596924	HepG2	liver:	n/a
34	chr5:28596874-28596924	SKMC	muscle:	n/a
35	chr5:28596874-28596924	ovcar-3	ovarian:	n/a
36	chr5:28596874-28596924	GM12892	blood:	n/a
37	chr5:28596874-28596924	Hela-S3	cervix:	n/a
38	chr5:28596874-28596924	HUVEC	blood vessel:	n/a
39	chr5:28596874-28596924	NB4	blood:	n/a
40	chr5:28596874-28596924	AG10803	skin:	n/a
41	chr5:28596874-28596924	PANC-1	pancreas:	n/a
42	chr5:28596874-28596924	SAEC	small airway:	n/a
43	chr5:28596874-28596924	PrEC	prostate:	n/a
44	chr5:28596874-28596924	HCM	heart:	n/a
45	chr5:28596874-28596924	HMEC	breast:	n/a
46	chr5:28596874-28596924	HCT-116	colon:	n/a
47	chr5:28596874-28596924	HRPEpiC	eye:	n/a
48	chr5:28596874-28596924	HIPEpiC	eye:	n/a
49	chr5:28596874-28596924	HCF	heart:	n/a
50	chr5:28596874-28596924	Caco-2	colon:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
2	chr5:28607591..28610399-chr5:28611364..28613106,2	K562	blood:
3	chr5:28556590..28559536-chr7:6098281..6100048,2	MCF-7	breast:
4	chr5:28473713..28474256-chr5:28575899..28576440,2	MCF-7	breast:
5	chr5:28344853..28345525-chr5:28576087..28576818,2	MCF-7	breast:
6	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:
7	chr5:28344802..28345403-chr5:28575923..28576762,2	MCF-7	breast:
8	chr5:28607591..28610399-chr5:28611364..28613106,2	K562	blood:
9	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-11	chr5:28625400-28625629	NONHSAT100819
2	lnc-CDH6-18	chr5:28602704-28602704	FPKM1_group_25126_transcript_1
3	lnc-CDH9-11	chr5:28629932-28630057	NONHSAT100819
4	lnc-CDH6-17	chr5:28603723-28604954	NONHSAT100817
5	lnc-CDH6-18	chr5:28602704-28602803	NONHSAT100815

No data

Variant related genes	Relation type
RNU6-909P	TF binding region
RNU6-909P	CpG island
ENSG00000086232	chromatin interactions

Extended variants
information (count: 469 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577814564	chr5:28556623-28556624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148616177	chr5:28556643-28556644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538784014	chr5:28556647-28556648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558372012	chr5:28556680-28556681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143135875	chr5:28556694-28556695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187055829	chr5:28556729-28556730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564458397	chr5:28556733-28556734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562430014	chr5:28556772-28556773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77751508	chr5:28556777-28556778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10472134	chr5:28556780-28556781	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562597268	chr5:28556781-28556782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533410492	chr5:28556807-28556808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540833309	chr5:28556819-28556820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4285234	chr5:28556821-28556822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551500463	chr5:28556834-28556835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529489753	chr5:28556867-28556868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144557529	chr5:28556879-28556880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146177023	chr5:28556898-28556899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370811292	chr5:28556903-28556904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61187858	chr5:28556906-28556907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527504704	chr5:28556912-28556913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10472647	chr5:28556918-28556919	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567559169	chr5:28556954-28556955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537394654	chr5:28556995-28556996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192441884	chr5:28557063-28557064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569358880	chr5:28557102-28557103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181531436	chr5:28557163-28557164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62357847	chr5:28557174-28557175	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553940106	chr5:28557214-28557215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6866860	chr5:28557222-28557223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186273022	chr5:28557251-28557252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35086443	chr5:28557254-28557255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375255416	chr5:28557255-28557256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555745823	chr5:28557270-28557271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574279912	chr5:28557305-28557306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544625408	chr5:28557311-28557312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556130178	chr5:28557320-28557321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375704236	chr5:28557353-28557354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190207136	chr5:28557372-28557373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114254314	chr5:28557382-28557383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527454961	chr5:28557411-28557412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542809798	chr5:28557417-28557418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111403937	chr5:28557419-28557420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4371765	chr5:28557437-28557438	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182524506	chr5:28557470-28557471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571239538	chr5:28557490-28557491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188272247	chr5:28557491-28557492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547482025	chr5:28557558-28557559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35171040	chr5:28557583-28557584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139448744	chr5:28557651-28557652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28561600-28562200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:28574800-28575600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:28575400-28576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:28580600-28581600	Enhancers	NH-A	brain
5	chr5:28580800-28581400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:28612600-28613000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:28624600-28626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:28636200-28636600	Active TSS	A549	lung
9	chr5:28637400-28637800	Active TSS	K562	blood
10	chr5:28648200-28648600	Enhancers	NH-A	brain

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