Variant report

Variant	nsv508360
Chromosome Location	chr1:84500230-84524997
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:84506312..84509081-chr1:84514938..84517601,2	MCF-7	breast:
2	chr1:84490870..84492577-chr1:84505542..84507269,2	K562	blood:
3	chr1:84507393..84510373-chr17:41380299..41381957,2	MCF-7	breast:
4	chr1:84508873..84510393-chr17:41398425..41400518,3	K562	blood:
5	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
6	chr1:84515190..84517358-chr1:84542033..84543983,2	K562	blood:
7	chr1:84524529..84526369-chr1:84540016..84543741,3	K562	blood:
8	chr1:84506312..84509081-chr1:84514938..84517601,2	MCF-7	breast:
9	chr1:84493894..84496229-chr1:84499298..84501973,3	K562	blood:
10	chr1:84507131..84508951-chr1:84514289..84516421,2	K562	blood:
11	chr1:84516996..84518865-chr1:84523452..84525021,2	MCF-7	breast:
12	chr1:84524044..84526029-chr1:84541192..84543741,2	K562	blood:
13	chr1:84508873..84510373-chr17:41380522..41383401,3	K562	blood:
14	chr1:84507131..84508951-chr1:84514289..84516421,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271576	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000142875	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528362406	chr1:84501001-84501002	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs146057289	chr1:84501020-84501021	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561089758	chr1:84501089-84501090	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs530218188	chr1:84501121-84501122	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs546639741	chr1:84501127-84501128	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs76444635	chr1:84501136-84501137	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs627712	chr1:84501140-84501141	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs116788711	chr1:84501147-84501148	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs569232672	chr1:84501155-84501156	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs627658	chr1:84501182-84501183	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530607441	chr1:84501208-84501209	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs550796560	chr1:84501247-84501248	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs570428769	chr1:84501259-84501260	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs554560544	chr1:84501260-84501261	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs367941941	chr1:84501285-84501286	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs371814183	chr1:84501289-84501290	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs553894795	chr1:84501323-84501324	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs77350646	chr1:84501344-84501345	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556659110	chr1:84501387-84501388	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs576721860	chr1:84503508-84503509	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74561699	chr1:84503521-84503522	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528985743	chr1:84503526-84503527	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs549059898	chr1:84503590-84503591	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565580168	chr1:84503665-84503666	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs189426157	chr1:84503692-84503693	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs528257409	chr1:84503708-84503709	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551291329	chr1:84503749-84503750	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181263354	chr1:84503781-84503782	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs1602999	chr1:84503782-84503783	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556292849	chr1:84503787-84503788	ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184880459	chr1:84503829-84503830	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535619542	chr1:84503843-84503844	ZNF genes & repeats Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78731366	chr1:84504026-84504027	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72721436	chr1:84504052-84504053	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs541614532	chr1:84504062-84504063	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117364282	chr1:84504107-84504108	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs566830	chr1:84504109-84504110	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558036692	chr1:84504234-84504235	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374150328	chr1:84504325-84504326	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189739576	chr1:84504326-84504327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563184268	chr1:84504331-84504332	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs578230879	chr1:84504364-84504365	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs375910554	chr1:84504365-84504366	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181846080	chr1:84504382-84504383	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs527701493	chr1:84505359-84505360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552057156	chr1:84507447-84507448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143052190	chr1:84507471-84507472	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs111986579	chr1:84507517-84507518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200347316	chr1:84507578-84507579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188942924	chr1:84507603-84507604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84501000-84501200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
2	chr1:84501200-84501400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr1:84503400-84504000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:84503400-84504400	Active TSS	HepG2	liver
5	chr1:84503600-84504000	Enhancers	Pancreas	Pancrea
6	chr1:84503800-84504400	Active TSS	Liver	Liver
7	chr1:84504000-84504400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:84505200-84505400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:84507800-84508800	Enhancers	Fetal Brain Female	brain
10	chr1:84508600-84509000	Enhancers	Fetal Brain Male	brain
11	chr1:84516200-84517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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