Variant report

Variant	nsv1032168
Chromosome Location	chr6:146926785-146982484
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr6:146927955-146928078	K562	blood:	n/a	n/a
2	BCL3	chr6:146972305-146972495	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:146936275-146936528	K562	blood:	n/a	n/a
4	CEBPB	chr6:146941844-146942053	HepG2	liver:	n/a	n/a
5	CEBPB	chr6:146941870-146942142	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr6:146941863-146942097	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr6:146962878-146962980	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr6:146960320-146960470	HAc	cerebellar:	n/a	n/a
9	CTCF	chr6:146929000-146929150	GM12873	blood:	n/a	n/a
10	CTCF	chr6:146972387-146972399	MCF-7	breast:	n/a	n/a
11	CTCF	chr6:146934467-146934604	K562	blood:	n/a	n/a
12	E2F4	chr6:146933672-146933694	MCF10A-Er-Src	breast:	n/a	n/a
13	E2F4	chr6:146956192-146956554	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr6:146972372-146972577	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr6:146966707-146966907	MCF10A-Er-Src	breast:	n/a	n/a
16	EGR1	chr6:146957657-146957914	K562	blood:	n/a	n/a
17	EGR1	chr6:146936338-146936547	K562	blood:	n/a	n/a
18	EGR1	chr6:146936326-146936479	K562	blood:	n/a	n/a
19	EP300	chr6:146971742-146972281	SK-N-SH_RA	brain:	n/a	n/a
20	EP300	chr6:146972556-146973009	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr6:146980994-146981147	K562	blood:	n/a	n/a
22	EP300	chr6:146972561-146973038	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr6:146956346-146956615	SK-N-SH_RA	brain:	n/a	chr6:146956408-146956417
24	EP300	chr6:146971719-146972241	SK-N-SH_RA	brain:	n/a	n/a
25	EP300	chr6:146971500-146973327	SK-N-SH	brain:	n/a	chr6:146973079-146973089
26	FOS	chr6:146957485-146957560	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr6:146957399-146957590	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr6:146964089-146964556	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr6:146972232-146972626	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr6:146964121-146964425	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr6:146966322-146966656	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr6:146941822-146942123	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr6:146972258-146972617	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr6:146967977-146968278	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr6:146968116-146968250	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr6:146941805-146942145	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr6:146955043-146955181	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr6:146972288-146972605	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr6:146968039-146968315	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr6:146956357-146956444	MCF10A-Er-Src	breast:	n/a	chr6:146956406-146956418 chr6:146956408-146956416 chr6:146956408-146956415 chr6:146956408-146956416
41	FOS	chr6:146966479-146966692	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr6:146957483-146957683	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr6:146964099-146964480	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr6:146963947-146964492	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr6:146972268-146972604	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr6:146941850-146942169	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr6:146967974-146968286	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr6:146955061-146955259	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr6:146955015-146955209	MCF10A-Er-Src	breast:	n/a	n/a
50	FOXA1	chr6:146949375-146949777	HepG2	liver:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:146967267..146968866-chr6:146972287..146973915,2	K562	blood:
2	chr6:146919103..146921537-chr6:146925047..146927582,2	MCF-7	breast:
3	chr6:146967267..146968866-chr6:146972287..146973915,2	K562	blood:
4	chr6:146966462..146968397-chr6:146969328..146972285,2	K562	blood:
5	chr6:146939450..146941701-chr6:146943934..146946930,3	K562	blood:
6	chr6:146976497..146978851-chr6:146980251..146982308,2	K562	blood:
7	chr6:146944868..146947325-chr6:146955854..146958231,2	MCF-7	breast:
8	chr6:146941192..146944178-chr6:146947199..146948958,2	K562	blood:
9	chr6:146941192..146944178-chr6:146947199..146948958,2	K562	blood:
10	chr6:146945263..146947136-chr6:146947971..146950294,2	K562	blood:
11	chr6:146920508..146922896-chr6:146927982..146930312,2	K562	blood:
12	chr17:56735455..56738007-chr6:146963665..146966188,2	MCF-7	breast:
13	chr6:146944868..146947325-chr6:146955854..146958231,2	MCF-7	breast:
14	chr6:146926919..146929626-chr6:146933034..146934775,2	K562	blood:
15	chr6:146963039..146964727-chr6:146965661..146967641,2	K562	blood:
16	chr6:146926919..146929626-chr6:146933034..146934775,2	K562	blood:
17	chr6:146945263..146947136-chr6:146947971..146950294,2	K562	blood:
18	chr6:146939450..146941701-chr6:146943934..146946930,3	K562	blood:
19	chr6:146966462..146968397-chr6:146969328..146972285,2	K562	blood:
20	chr6:146947403..146949160-chr6:146952558..146955417,2	MCF-7	breast:
21	chr6:146963039..146964727-chr6:146965661..146967641,2	K562	blood:
22	chr6:146947403..146949160-chr6:146952558..146955417,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHPRH-4	chr6:146946131-146946192	l_3288_chr6:146945475-146961708_testes
2	lnc-SHPRH-4	chr6:146960894-146961708	l_3288_chr6:146945475-146961708_testes
3	lnc-SHPRH-4	chr6:146945476-146945599	l_3288_chr6:146945475-146961708_testes
4	lnc-SHPRH-4	chr6:146959280-146959330	l_3288_chr6:146945475-146961708_testes

No data

Variant related genes	Relation type
RNU6-734P	TF binding region
ADGB	TF binding region
ENSG00000118492	chromatin interactions
ENSG00000237468	chromatin interactions
ENSG00000202077	chromatin interactions

Extended variants
information (count: 832 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:832 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182356534	chr6:146926794-146926795	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs117171601	chr6:146926815-146926816	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs377248543	chr6:146926816-146926817	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546083961	chr6:146926928-146926929	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570801675	chr6:146927040-146927041	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs533190864	chr6:146927052-146927053	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs75687581	chr6:146927165-146927166	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs547235435	chr6:146927172-146927173	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186684211	chr6:146927224-146927225	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs578257227	chr6:146927226-146927227	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536009196	chr6:146927280-146927281	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs552988360	chr6:146927294-146927295	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555992185	chr6:146927301-146927302	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs369760728	chr6:146927307-146927308	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1575374	chr6:146927319-146927320	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537122311	chr6:146927343-146927344	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541777358	chr6:146927350-146927351	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs534424652	chr6:146927357-146927358	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556802315	chr6:146927375-146927376	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576738201	chr6:146927388-146927389	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545493956	chr6:146927421-146927422	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553188133	chr6:146927426-146927427	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs113670238	chr6:146927427-146927428	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs532496752	chr6:146928005-146928006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552508306	chr6:146928031-146928032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57390830	chr6:146928059-146928060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs60260546	chr6:146928061-146928062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550610951	chr6:146928067-146928068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114540447	chr6:146928098-146928099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9403794	chr6:146928104-146928105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs59797136	chr6:146928117-146928118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552686328	chr6:146928155-146928156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542197551	chr6:146928169-146928170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535340522	chr6:146928175-146928176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561173128	chr6:146931833-146931834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs529865559	chr6:146931855-146931856	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs549942906	chr6:146931881-146931882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571290835	chr6:146931926-146931927	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs386706736	chr6:146931956-146931957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113494425	chr6:146931968-146931969	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539106062	chr6:146931979-146931980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs552416661	chr6:146931987-146931988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565709034	chr6:146931997-146931998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs77814676	chr6:146932020-146932021	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs376860677	chr6:146932046-146932047	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs1934910	chr6:146932047-146932048	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139967682	chr6:146932063-146932064	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs537386302	chr6:146932074-146932075	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557515901	chr6:146932076-146932077	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529181425	chr6:146932107-146932108	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	22495311	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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
lymphocytic leukemia	21291569	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146928000-146928200	Weak transcription	Aorta	Aorta
2	chr6:146931800-146932200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:146932000-146932200	ZNF genes & repeats	Aorta	Aorta
4	chr6:146932000-146932200	ZNF genes & repeats	Pancreas	Pancrea
5	chr6:146933600-146934600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:146934000-146934800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:146941600-146942000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr6:146941800-146942800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:146942000-146942600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:146942000-146942800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr6:146949600-146950000	Enhancers	Primary T cells from cord blood	blood
12	chr6:146949800-146950000	Enhancers	Stomach Mucosa	stomach
13	chr6:146953000-146954800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:146967800-146976400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:146971800-146972200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:146971800-146972400	Enhancers	NHDF-Ad	bronchial
17	chr6:146972000-146972400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:146972200-146972800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:146976400-146976600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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