Variant report

Variant	nsv428486
Chromosome Location	chr6:78519436-78693965
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	chr6:78544192-78545206	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:78635944-78636263	HepG2	liver:	n/a	n/a
3	CCNT2	chr6:78564324-78564562	K562	blood:	n/a	n/a
4	CEBPB	chr6:78567713-78567950	HepG2	liver:	n/a	chr6:78567824-78567833
5	CEBPB	chr6:78544456-78544599	HepG2	liver:	n/a	n/a
6	CEBPB	chr6:78646654-78646963	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:78678742-78679066	HepG2	liver:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
8	CEBPB	chr6:78643089-78643174	A549	lung:	n/a	n/a
9	CEBPB	chr6:78526472-78526759	HepG2	liver:	n/a	n/a
10	CEBPB	chr6:78678750-78678987	A549	lung:	n/a	chr6:78678828-78678837 chr6:78678828-78678837 chr6:78678827-78678838 chr6:78678826-78678839 chr6:78678828-78678837 chr6:78678826-78678839 chr6:78678826-78678837 chr6:78678828-78678837
11	CEBPB	chr6:78544334-78544618	HepG2	liver:	n/a	n/a
12	CEBPB	chr6:78535355-78535666	HepG2	liver:	n/a	chr6:78535520-78535531
13	CEBPB	chr6:78685530-78685797	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr6:78590222-78590599	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr6:78535525-78535565	A549	lung:	n/a	n/a
16	CEBPB	chr6:78636105-78636242	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr6:78532004-78532229	GM12878	blood:	n/a	n/a
18	CTCF	chr6:78636060-78636210	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr6:78636040-78636190	WI-38	lung:	n/a	n/a
20	CTCF	chr6:78635931-78636307	GM12878	blood:	n/a	n/a
21	CTCF	chr6:78636040-78636190	GM12869	blood:	n/a	n/a
22	CTCF	chr6:78636001-78636232	MCF-7	breast:	n/a	n/a
23	CTCF	chr6:78636000-78636150	Caco-2	colon:	n/a	n/a
24	CTCF	chr6:78636100-78636250	MCF-7	breast:	n/a	n/a
25	CTCF	chr6:78636011-78636235	LNCaP	prostate:	n/a	n/a
26	CTCF	chr6:78636102-78636160	Spleen_OC	spleen:	n/a	n/a
27	CTCF	chr6:78636100-78636250	K562	blood:	n/a	n/a
28	CTCF	chr6:78636000-78636150	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:78636013-78636232	HepG2	liver:	n/a	n/a
30	CTCF	chr6:78636060-78636210	HAc	cerebellar:	n/a	n/a
31	CTCF	chr6:78636080-78636230	HMEC	breast:	n/a	n/a
32	CTCF	chr6:78578818-78578876	LNCaP	prostate:	n/a	n/a
33	CTCF	chr6:78636060-78636210	GM12878	blood:	n/a	n/a
34	CTCF	chr6:78635960-78636110	GM06990	blood:	n/a	n/a
35	CTCF	chr6:78572188-78572221	Fibrobl	skin:	n/a	n/a
36	CTCF	chr6:78636000-78636150	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr6:78636020-78636170	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr6:78636000-78636150	GM06990	blood:	n/a	n/a
39	CTCF	chr6:78636000-78636214	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr6:78636041-78636210	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr6:78636060-78636210	HEEpiC	esophagus:	n/a	n/a
42	CTCF	chr6:78635796-78636355	HCT-116	colon:	n/a	n/a
43	CTCF	chr6:78595300-78595450	HepG2	liver:	n/a	n/a
44	CTCF	chr6:78636020-78636170	NHEK	skin:	n/a	n/a
45	CTCF	chr6:78636060-78636210	HMEC	breast:	n/a	n/a
46	CTCF	chr6:78635940-78636090	RPTEC	kidney:	n/a	n/a
47	CTCF	chr6:78635863-78636325	MCF-7	breast:	n/a	n/a
48	CTCF	chr6:78636048-78636172	GM13977	blood:	n/a	n/a
49	CTCF	chr6:78636000-78636150	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr6:78636060-78636210	GM12865	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:78449862..78450824-chr6:78635645..78636377,3	MCF-7	breast:
2	chr6:78588151..78590093-chr6:78592344..78594893,2	K562	blood:
3	chr6:78588151..78590093-chr6:78592344..78594893,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK1BP1-5	chr6:78689525-78690012	l_3208_chr6:78417002-78689824_testes
2	lnc-IRAK1BP1-5	chr6:78527566-78528101	l_3208_chr6:78417002-78689824_testes
3	lnc-IRAK1BP1-5	chr6:78595367-78595498	l_3208_chr6:78417002-78689824_testes

Variant related genes	Relation type
ENSG00000252932	TF binding region

Extended variants
information (count: 1792 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1792 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188475653	chr6:78519484-78519485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1513014	chr6:78519497-78519498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147084215	chr6:78519517-78519518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531471589	chr6:78519522-78519523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377072148	chr6:78519565-78519566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535081151	chr6:78519603-78519604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564349025	chr6:78519635-78519636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75868259	chr6:78519645-78519646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527485851	chr6:78519685-78519686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531393211	chr6:78519708-78519709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138765034	chr6:78519806-78519807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142749967	chr6:78519823-78519824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570712361	chr6:78519839-78519840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539862669	chr6:78519863-78519864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550163227	chr6:78519923-78519924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147366537	chr6:78519957-78519958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16889431	chr6:78520013-78520014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555574323	chr6:78520014-78520015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566301737	chr6:78520046-78520047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77401646	chr6:78520083-78520084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534861252	chr6:78520114-78520115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562655747	chr6:78520131-78520132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558054500	chr6:78520149-78520150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149448590	chr6:78520158-78520159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543695197	chr6:78520175-78520176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144167124	chr6:78520187-78520188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575945546	chr6:78520202-78520203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71546071	chr6:78520210-78520211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201470475	chr6:78520211-78520212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35411298	chr6:78520213-78520214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148685587	chr6:78520224-78520225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143417089	chr6:78520225-78520226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1513013	chr6:78520317-78520318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112307882	chr6:78520362-78520363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533299410	chr6:78520377-78520378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550075745	chr6:78520413-78520414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570110349	chr6:78520419-78520420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529259191	chr6:78520479-78520480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549464246	chr6:78520512-78520513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs1913205	chr6:78520583-78520584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535239721	chr6:78520642-78520643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555295682	chr6:78520654-78520655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557966343	chr6:78520671-78520672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571488170	chr6:78520745-78520746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575760094	chr6:78520749-78520750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544758825	chr6:78520752-78520753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146723334	chr6:78520805-78520806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552578662	chr6:78520862-78520863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79055634	chr6:78520879-78520880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7744518	chr6:78520887-78520888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19036926	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78518800-78520000	Weak transcription	Liver	Liver
2	chr6:78519600-78520200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:78519600-78520400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:78519800-78520200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:78519800-78520200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:78519800-78520200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:78519800-78520400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:78519800-78520400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:78519800-78520400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:78520000-78520400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:78520000-78520400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr6:78520000-78521000	Enhancers	Liver	Liver
13	chr6:78520000-78521000	Enhancers	Fetal Intestine Large	intestine
14	chr6:78520200-78524000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:78520200-78524000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:78520400-78523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:78520400-78523800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:78520400-78524000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:78521000-78522200	Weak transcription	Fetal Intestine Large	intestine
20	chr6:78521000-78524000	Weak transcription	Liver	Liver
21	chr6:78522200-78522600	Enhancers	HepG2	liver
22	chr6:78522200-78525200	Enhancers	Fetal Intestine Large	intestine
23	chr6:78522600-78523800	Weak transcription	HepG2	liver
24	chr6:78522800-78525200	Enhancers	Stomach Mucosa	stomach
25	chr6:78522800-78525600	Enhancers	Fetal Intestine Small	intestine
26	chr6:78523800-78524000	Enhancers	Duodenum Mucosa	Duodenum
27	chr6:78523800-78524200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:78523800-78524400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:78523800-78524600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr6:78523800-78524800	Enhancers	HepG2	liver
31	chr6:78524000-78524400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr6:78524000-78524400	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:78524000-78524800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:78524000-78524800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:78524000-78525600	Enhancers	Liver	Liver
36	chr6:78524400-78525000	Enhancers	Duodenum Mucosa	Duodenum
37	chr6:78525200-78527400	Weak transcription	Fetal Intestine Large	intestine
38	chr6:78527400-78527800	Enhancers	Fetal Intestine Large	intestine
39	chr6:78539800-78540000	Enhancers	Stomach Mucosa	stomach
40	chr6:78539800-78540200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:78540000-78544400	Weak transcription	Stomach Mucosa	stomach
42	chr6:78542400-78542800	Enhancers	HepG2	liver
43	chr6:78542800-78544200	Weak transcription	HepG2	liver
44	chr6:78544200-78544800	Enhancers	Fetal Intestine Small	intestine
45	chr6:78544200-78544800	Active TSS	HepG2	liver
46	chr6:78544200-78545000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:78544200-78547400	Enhancers	Fetal Intestine Large	intestine
48	chr6:78544400-78544600	Enhancers	Liver	Liver
49	chr6:78544400-78544600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr6:78544400-78544600	Enhancers	Stomach Mucosa	stomach

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