Variant report

Variant	nsv885880
Chromosome Location	chr6:48975662-49102186
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	BRCA1	chr6:49083255-49083266	GM12878	blood:	n/a	n/a
2	BRCA1	chr6:49056470-49056593	GM12878	blood:	n/a	n/a
3	CBX3	chr6:49097673-49097874	K562	blood:	n/a	n/a
4	CCNT2	chr6:49008492-49008530	K562	blood:	n/a	n/a
5	CEBPB	chr6:48995297-48995657	IMR90	lung:	n/a	chr6:48995474-48995487 chr6:48995476-48995487 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995474-48995485
6	CEBPB	chr6:48995338-48995638	K562	blood:	n/a	chr6:48995474-48995487 chr6:48995476-48995487 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995474-48995485
7	CEBPB	chr6:49011893-49012222	IMR90	lung:	n/a	chr6:49012065-49012076
8	CEBPB	chr6:49014947-49014950	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr6:49011918-49012165	A549	lung:	n/a	chr6:49012065-49012076
10	CEBPB	chr6:49006054-49006289	A549	lung:	n/a	chr6:49006135-49006148 chr6:49006135-49006148 chr6:49006256-49006269 chr6:49006135-49006146
11	CEBPB	chr6:49011908-49012237	HepG2	liver:	n/a	chr6:49012065-49012076
12	CEBPB	chr6:48995306-48995662	A549	lung:	n/a	chr6:48995474-48995487 chr6:48995476-48995487 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995474-48995485
13	CEBPB	chr6:49005977-49006303	HepG2	liver:	n/a	chr6:49006135-49006148 chr6:49006135-49006148 chr6:49006256-49006269 chr6:49006135-49006146
14	CEBPB	chr6:48995295-48995649	HepG2	liver:	n/a	chr6:48995474-48995487 chr6:48995476-48995487 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995476-48995485 chr6:48995474-48995487 chr6:48995474-48995485
15	CEBPB	chr6:49014838-49015111	HepG2	liver:	n/a	n/a
16	CHD2	chr6:48981344-48981423	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr6:49038020-49038170	HepG2	liver:	n/a	n/a
18	CTCF	chr6:49052577-49052668	NHEK	skin:	n/a	n/a
19	CTCF	chr6:49088096-49088130	GM10248	blood:	n/a	n/a
20	CTCF	chr6:49065576-49065655	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr6:49065460-49065610	HEK293	kidney:	n/a	n/a
22	CTCF	chr6:49039958-49039975	GM10266	blood:	n/a	n/a
23	CTCF	chr6:49065580-49065730	BE2_C	brain:	n/a	n/a
24	CTCF	chr6:49097809-49097913	Medullo	brain:	n/a	n/a
25	CTCF	chr6:48991700-48991850	Caco-2	colon:	n/a	n/a
26	CTCF	chr6:49065558-49065608	A549	lung:	n/a	n/a
27	CTCF	chr6:49039903-49040012	LNCaP	prostate:	n/a	n/a
28	CTCF	chr6:49065519-49065662	HepG2	liver:	n/a	n/a
29	CTCF	chr6:49029900-49029971	Lung_OC	lung:	n/a	n/a
30	CTCF	chr6:48976493-48976516	Lung_OC	lung:	n/a	n/a
31	CTCF	chr6:49065520-49065670	HepG2	liver:	n/a	n/a
32	CTCF	chr6:49065420-49065570	BE2_C	brain:	n/a	n/a
33	CTCF	chr6:49065613-49065651	HepG2	liver:	n/a	n/a
34	CTCF	chr6:49063944-49064051	K562	blood:	n/a	n/a
35	CTCF	chr6:49039890-49039963	NHEK	skin:	n/a	n/a
36	CTCF	chr6:49065607-49065612	HepG2	liver:	n/a	n/a
37	CTCF	chr6:49065440-49065590	SK-N-SH_RA	brain:	n/a	n/a
38	E2F4	chr6:49022116-49022486	MCF10A-Er-Src	breast:	n/a	n/a
39	EP300	chr6:49033327-49033776	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr6:49033231-49033957	SK-N-SH	brain:	n/a	n/a
41	EP300	chr6:48981054-48981323	SK-N-SH_RA	brain:	n/a	n/a
42	FOS	chr6:49022063-49022312	MCF10A-Er-Src	breast:	n/a	chr6:49022289-49022298
43	FOS	chr6:49089680-49089863	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr6:49085899-49086230	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:49014788-49015020	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr6:49050277-49050615	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:49022020-49022348	MCF10A-Er-Src	breast:	n/a	chr6:49022289-49022298
48	FOS	chr6:49020690-49020842	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:49001553-49001596	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr6:49085866-49086304	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:49002798..49004386-chr6:49013935..49016675,2	K562	blood:
2	chr6:49048004..49050431-chr6:49070193..49072035,2	K562	blood:
3	chr6:49015969..49017870-chr6:49018655..49020738,2	K562	blood:
4	chr6:49056050..49058836-chr6:49063440..49065023,2	K562	blood:
5	chr6:48994359..48996069-chr6:48999531..49001220,2	K562	blood:
6	chr6:49048004..49050431-chr6:49070193..49072035,2	K562	blood:
7	chr6:48981721..48984631-chr6:48985327..48987598,2	K562	blood:
8	chr1:37939002..37941734-chr6:49098087..49100973,2	MCF-7	breast:
9	chr6:48993257..48996321-chr6:48996970..49002348,7	K562	blood:
10	chr6:49002798..49004386-chr6:49013935..49016675,2	K562	blood:
11	chr5:28770203..28772237-chr6:49079734..49082291,2	MCF-7	breast:
12	chr6:48994359..48996069-chr6:48999531..49001220,2	K562	blood:
13	chr6:49068560..49071402-chr6:49178600..49180630,2	K562	blood:
14	chr6:49100268..49102612-chr6:49105903..49108889,2	K562	blood:
15	chr6:49056050..49058836-chr6:49063440..49065023,2	K562	blood:
16	chr6:48981721..48984631-chr6:48985327..48987598,2	K562	blood:
17	chr6:49055092..49057550-chr6:49062999..49064940,2	K562	blood:
18	chr6:49015969..49017870-chr6:49018655..49020738,2	K562	blood:
19	chr6:48993257..48996321-chr6:48996970..49002348,7	K562	blood:
20	chr6:49055092..49057550-chr6:49062999..49064940,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MUT-1	chr6:49045349-49045688	NONHSAT113054

Variant related genes	Relation type
ENSG00000218337	TF binding region
ENSG00000163874	chromatin interactions
ENSG00000233621	chromatin interactions

Extended variants
information (count: 5045 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:5045 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4506041	chr6:48975662-48975663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75327674	chr6:48975664-48975665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186179177	chr6:48975743-48975744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376125157	chr6:48975747-48975748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189849923	chr6:48975774-48975775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113995385	chr6:48975793-48975794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145292416	chr6:48975798-48975799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576474250	chr6:48975841-48975842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543868850	chr6:48975844-48975845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs137884504	chr6:48975870-48975871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567058042	chr6:48975895-48975896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116471956	chr6:48975997-48975998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140862195	chr6:48976054-48976055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141643237	chr6:48976117-48976118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180837868	chr6:48976137-48976138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114538573	chr6:48976142-48976143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563267735	chr6:48976147-48976148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372121230	chr6:48976148-48976149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530549286	chr6:48976170-48976171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115875681	chr6:48976175-48976176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568712035	chr6:48976201-48976202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186229993	chr6:48976202-48976203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547968054	chr6:48976234-48976235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190952491	chr6:48976248-48976249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540088650	chr6:48976289-48976290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540651616	chr6:48976294-48976295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557887121	chr6:48976297-48976298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560529003	chr6:48976378-48976379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183289954	chr6:48976399-48976400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537182422	chr6:48976401-48976402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555430091	chr6:48976403-48976404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573545561	chr6:48976426-48976427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369300356	chr6:48976427-48976428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540830084	chr6:48976471-48976472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552716231	chr6:48976543-48976544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577882533	chr6:48976547-48976548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528459260	chr6:48976581-48976582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545266780	chr6:48976582-48976583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186494641	chr6:48976645-48976646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77269982	chr6:48976653-48976654	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs542792521	chr6:48976670-48976671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138577120	chr6:48976681-48976682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190480030	chr6:48976689-48976690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548024225	chr6:48976690-48976691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566234030	chr6:48976694-48976695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574328727	chr6:48976697-48976698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552034651	chr6:48976752-48976753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569991327	chr6:48976815-48976816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537449402	chr6:48976891-48976892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555295051	chr6:48976901-48976902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	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
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Intracranial tumor	22048656	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48972800-48993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:48993000-48994400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:48993400-48994200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:48993400-48994800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:48994400-49020800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:48994800-48998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:48998000-48998600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:48998000-48998800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:48998200-48998600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:48998200-48998800	Enhancers	NHEK	skin
11	chr6:49017200-49019400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:49017600-49019600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:49017800-49018200	Enhancers	Fetal Brain Male	brain
14	chr6:49017800-49018400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:49017800-49018400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr6:49018000-49018200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:49018000-49018400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:49018000-49018600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:49018200-49018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:49018200-49019400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:49018200-49019400	Weak transcription	Fetal Brain Male	brain
22	chr6:49019400-49019800	Enhancers	Fetal Brain Male	brain
23	chr6:49019400-49020000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:49019400-49023000	Enhancers	NHEK	skin
25	chr6:49019400-49023200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:49019600-49020400	Enhancers	HMEC	breast
27	chr6:49020000-49021000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:49020400-49021200	Weak transcription	HMEC	breast
29	chr6:49020800-49023000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:49021000-49023200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:49021200-49022600	Enhancers	HMEC	breast
32	chr6:49023200-49025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:49025000-49025600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:49032200-49032400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:49032400-49038000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:49038000-49038600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:49038200-49038400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:49038600-49039600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:49039600-49040400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:49039800-49040200	Enhancers	HMEC	breast
41	chr6:49040400-49089600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr6:49051200-49052000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr6:49051400-49052000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr6:49054800-49055800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:49055000-49055400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:49065000-49065200	Bivalent/Poised TSS	Liver	Liver
47	chr6:49065000-49065600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:49065000-49065800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:49065000-49065800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
50	chr6:49065000-49065800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

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