Variant report

Variant	nsv872728
Chromosome Location	chr1:189642442-189731048
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:0)
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	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
2	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
3	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
4	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
5	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
6	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
7	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
8	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
9	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
10	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
11	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
12	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
13	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
14	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
15	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
16	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
17	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113194	chromatin interactions

Extended variants
information (count: 391 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568904043	chr1:189645027-189645028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537817907	chr1:189645031-189645032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116793890	chr1:189645032-189645033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145736400	chr1:189645134-189645135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188955137	chr1:189645187-189645188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554077049	chr1:189645198-189645199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572748950	chr1:189645236-189645237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192634105	chr1:189645259-189645260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79996579	chr1:189645295-189645296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534795	chr1:189645319-189645320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576058980	chr1:189645349-189645350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534896	chr1:189645361-189645362	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182416926	chr1:189645397-189645398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372015567	chr1:189646043-189646044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376344799	chr1:189646048-189646049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562347	chr1:189646058-189646059	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558208749	chr1:189646070-189646071	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs151230912	chr1:189646093-189646094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563862717	chr1:189646116-189646117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562632444	chr1:189646186-189646187	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs2772318	chr1:189646197-189646198	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs542142516	chr1:189646203-189646204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115369679	chr1:189646215-189646216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184189851	chr1:189646222-189646223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547205452	chr1:189646237-189646238	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566763975	chr1:189646263-189646264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373903898	chr1:189646281-189646282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189390385	chr1:189646311-189646312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532856424	chr1:189646354-189646355	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190081684	chr1:189646431-189646432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs565944	chr1:189646443-189646444	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs477876	chr1:189646453-189646454	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs478799	chr1:189646562-189646563	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565966796	chr1:189646563-189646564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111327834	chr1:189646725-189646726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs480055	chr1:189646772-189646773	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs557832014	chr1:189646781-189646782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs480148	chr1:189646815-189646816	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543504868	chr1:189646819-189646820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557559487	chr1:189646848-189646849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs73053675	chr1:189646857-189646858	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192986066	chr1:189646874-189646875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs478740	chr1:189646898-189646899	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs481737	chr1:189646913-189646914	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555375770	chr1:189646970-189646971	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527555741	chr1:189647020-189647021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs116096386	chr1:189647036-189647037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563877054	chr1:189647077-189647078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs476884	chr1:189647094-189647095	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549464941	chr1:189647115-189647116	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189645000-189645400	Enhancers	Fetal Heart	heart
2	chr1:189649600-189650400	Enhancers	A549	lung
3	chr1:189650200-189651200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:189650400-189650600	Flanking Active TSS	A549	lung
5	chr1:189650400-189651000	Enhancers	HepG2	liver
6	chr1:189650600-189651000	Active TSS	A549	lung
7	chr1:189651200-189651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:189651600-189652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:189665400-189666400	Active TSS	Placenta	Placenta
10	chr1:189666400-189666600	Flanking Active TSS	Placenta	Placenta
11	chr1:189675200-189676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:189678000-189678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:189678000-189678400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:189688000-189688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:189721600-189722400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:189721600-189722600	Enhancers	Fetal Heart	heart
19	chr1:189721600-189723000	Enhancers	Fetal Lung	lung
20	chr1:189721800-189722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:189722000-189722600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:189722000-189722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:189722400-189723000	Enhancers	Hela-S3	cervix
24	chr1:189722600-189722800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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