Variant report

Variant	nsv528689
Chromosome Location	chr1:178950318-178968318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178966622..178971983-chr1:178991197..178996820,6	K562	blood:
2	chr1:178511723..178512276-chr1:178967386..178968256,2	MCF-7	breast:
3	chr1:178965316..178969355-chr1:178991737..178995719,5	K562	blood:
4	chr1:178934572..178936647-chr1:178949389..178950918,2	MCF-7	breast:
5	chr1:178966164..178968427-chr1:178970243..178973041,3	MCF-7	breast:
6	chr1:178966242..178968851-chr1:178970312..178972982,2	K562	blood:

Variant related genes	Relation type
ENSG00000116199	chromatin interactions
ENSG00000213057	chromatin interactions
ENSG00000184909	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565981397	chr1:178955204-178955205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564522191	chr1:178955244-178955245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146541691	chr1:178955338-178955339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6658801	chr1:178955364-178955365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572073174	chr1:178955367-178955368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560047087	chr1:178955371-178955372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191893840	chr1:178955398-178955399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549244141	chr1:178955407-178955408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183872045	chr1:178955416-178955417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528657563	chr1:178955477-178955478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551055331	chr1:178955478-178955479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571242450	chr1:178955502-178955503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187650853	chr1:178955518-178955519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190723371	chr1:178955521-178955522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182292979	chr1:178955522-178955523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs207460713	chr1:178955526-178955527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551916121	chr1:178955551-178955552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535632235	chr1:178955562-178955563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555577898	chr1:178955593-178955594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186730955	chr1:178955683-178955684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538555903	chr1:178955794-178955795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191538819	chr1:178955806-178955807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72707262	chr1:178955810-178955811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540306705	chr1:178955831-178955832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560563437	chr1:178955838-178955839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147940418	chr1:178955866-178955867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141732076	chr1:178955870-178955871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113084567	chr1:178955888-178955889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73041602	chr1:178955910-178955911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545290995	chr1:178955923-178955924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111723519	chr1:178962604-178962605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139755593	chr1:178962629-178962630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113466097	chr1:178962643-178962644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552224563	chr1:178962657-178962658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373632294	chr1:178962695-178962696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549523760	chr1:178962747-178962748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568829210	chr1:178962760-178962761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556932404	chr1:178964457-178964458	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs115677328	chr1:178964458-178964459	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs545917638	chr1:178964474-178964475	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs532466798	chr1:178964480-178964481	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs572673427	chr1:178964486-178964487	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs147457825	chr1:178964563-178964564	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs139868795	chr1:178964574-178964575	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs1012066	chr1:178964604-178964605	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543423205	chr1:178964609-178964610	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs559529683	chr1:178964673-178964674	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs12130087	chr1:178964686-178964687	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs563701756	chr1:178964710-178964711	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs532427134	chr1:178964753-178964754	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178955200-178956000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:178962600-178962800	Enhancers	HepG2	liver
3	chr1:178964400-178964800	Bivalent Enhancer	HepG2	liver
4	chr1:178964600-178965000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:178966400-178966800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:178966600-178967000	Enhancers	Ovary	ovary
7	chr1:178966800-178967400	Enhancers	HepG2	liver
8	chr1:178966800-178969000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:178967000-178971400	Weak transcription	Ovary	ovary
10	chr1:178967400-178968000	Weak transcription	HepG2	liver
11	chr1:178967600-178971400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:178968000-178968400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:178968000-178968400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:178968000-178968600	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:178968000-178968800	Enhancers	HepG2	liver
16	chr1:178968200-178968400	Enhancers	Fetal Stomach	stomach
17	chr1:178968200-178968600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:178968200-178969400	Enhancers	Rectal Smooth Muscle	rectum

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