Variant report

Variant	esv2421713
Chromosome Location	chr7:6125381-6138111
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6133404..6135856-chr7:6136642..6138588,2	MCF-7	breast:
2	chr7:6134399..6135940-chr7:6137950..6139940,2	K562	blood:
3	chr7:6097434..6099559-chr7:6134440..6137386,2	K562	blood:
4	chr7:6118471..6120891-chr7:6135399..6137782,2	K562	blood:
5	chr7:6120819..6122928-chr7:6131075..6133699,2	K562	blood:
6	chr7:6118962..6122557-chr7:6124155..6128114,4	MCF-7	breast:
7	chr7:6137902..6140709-chr7:6237423..6239773,2	K562	blood:
8	chr7:6132461..6134616-chr7:6143450..6145084,2	K562	blood:
9	chr7:6136281..6138801-chr7:6142810..6145571,2	MCF-7	breast:
10	chr7:6134399..6135940-chr7:6137950..6139940,2	K562	blood:
11	chr7:6118943..6121901-chr7:6135468..6137928,2	MCF-7	breast:
12	chr7:6097164..6099061-chr7:6134553..6137084,2	MCF-7	breast:
13	chr7:6127500..6130529-chr7:6140681..6143799,3	MCF-7	breast:
14	chr7:6133404..6135856-chr7:6136642..6138588,2	MCF-7	breast:
15	chr7:6129689..6132230-chr7:6141187..6143186,2	K562	blood:
16	chr7:6130749..6132668-chr7:6140261..6142428,2	MCF-7	breast:
17	chr7:6134295..6136999-chr7:6143069..6146027,4	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP42-3	chr7:6130515-6131250	NONHSAT118980
2	lnc-USP42-4	chr7:6128922-6129206	NONHSAT118979
3	lnc-USP42-1	chr7:6128421-6128531	XLOC_005979
4	lnc-USP42-1	chr7:6132660-6132683	XLOC_005979
5	lnc-USP42-1	chr7:6128421-6128531	XLOC_005979
6	lnc-USP42-2	chr7:6131319-6131626	NONHSAT118981
7	lnc-USP42-1	chr7:6132660-6132716	XLOC_005979

No data

Variant related genes	Relation type
ENSG00000106346	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000264605	chromatin interactions
ENSG00000231704	chromatin interactions
LIN28B	miRNA target sites
NIN	miRNA target sites

Extended variants
information (count: 486 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:486 , 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	rs551592398	chr7:6125402-6125403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182670480	chr7:6125434-6125435	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs530688315	chr7:6125435-6125436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs688103	chr7:6125449-6125450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
5	rs147381463	chr7:6125451-6125452	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367997440	chr7:6125462-6125463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534323281	chr7:6125486-6125487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187867805	chr7:6125497-6125498	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113729508	chr7:6125501-6125502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538844820	chr7:6125524-6125525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192435413	chr7:6125533-6125534	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575928780	chr7:6125539-6125540	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536910099	chr7:6125554-6125555	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144848109	chr7:6125624-6125625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547901257	chr7:6125629-6125630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375124524	chr7:6125630-6125631	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs60646675	chr7:6125649-6125650	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566226236	chr7:6125677-6125678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115060852	chr7:6125707-6125708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558772461	chr7:6125713-6125714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577301339	chr7:6125730-6125731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544401770	chr7:6125734-6125735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533114447	chr7:6125753-6125754	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs374831681	chr7:6125818-6125819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113875019	chr7:6125848-6125849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563463807	chr7:6125864-6125865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201248764	chr7:6125869-6125870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530628170	chr7:6125897-6125898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367760345	chr7:6125900-6125901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184481430	chr7:6125903-6125904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs852164	chr7:6125906-6125907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
32	rs528069737	chr7:6125938-6125939	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546612341	chr7:6125985-6125986	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569898252	chr7:6126002-6126003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532201878	chr7:6126037-6126038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550416591	chr7:6126069-6126070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536971321	chr7:6126078-6126079	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149015311	chr7:6126087-6126088	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs566909615	chr7:6126088-6126089	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs865458	chr7:6126099-6126100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188931561	chr7:6126126-6126127	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116748866	chr7:6126140-6126141	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533925163	chr7:6126141-6126142	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs558939173	chr7:6126147-6126148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs193022149	chr7:6126167-6126168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs77104290	chr7:6126172-6126173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544652431	chr7:6126187-6126188	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556384831	chr7:6126229-6126230	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146873954	chr7:6126230-6126231	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542452861	chr7:6126232-6126233	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6131400-6131600	Enhancers	K562	blood
2	chr7:6131600-6132600	Weak transcription	K562	blood
3	chr7:6132000-6133200	Enhancers	HepG2	liver
4	chr7:6132200-6132400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
5	chr7:6132400-6132600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:6132400-6132600	Enhancers	A549	lung
7	chr7:6132400-6132800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:6132400-6133000	Enhancers	Hela-S3	cervix
9	chr7:6132600-6132800	Flanking Active TSS	A549	lung
10	chr7:6132600-6132800	Enhancers	K562	blood
11	chr7:6132600-6133200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:6132600-6133200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:6133000-6142400	Weak transcription	Hela-S3	cervix
14	chr7:6137600-6142000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:6138000-6138800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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