Variant report

Variant	nsv945310
Chromosome Location	chr1:223831298-223831990
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223831956..223833970-chr1:223853050..223855835,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53BP2-5	chr1:223831812-223832085	NONHSAT009740

Variant related genes	Relation type
ENSG00000203697	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12405993	chr1:223831316-223831317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10799570	chr1:223831318-223831319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs561649252	chr1:223831341-223831342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143276653	chr1:223831351-223831352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550926611	chr1:223831411-223831412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569085884	chr1:223831435-223831436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533492124	chr1:223831453-223831454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12406800	chr1:223831474-223831475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566776873	chr1:223831502-223831503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182826832	chr1:223831517-223831518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187051339	chr1:223831518-223831519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567689385	chr1:223831521-223831522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73125699	chr1:223831528-223831529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148822033	chr1:223831548-223831549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575503910	chr1:223831556-223831557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11584610	chr1:223831591-223831592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs143471562	chr1:223831593-223831594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573144768	chr1:223831603-223831604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72747950	chr1:223831657-223831658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576430794	chr1:223831658-223831659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575298051	chr1:223831665-223831666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529006987	chr1:223831668-223831669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151003902	chr1:223831673-223831674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74145962	chr1:223831676-223831677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200252588	chr1:223831690-223831691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74852599	chr1:223831704-223831705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533352964	chr1:223831727-223831728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551532815	chr1:223831729-223831730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566840077	chr1:223831742-223831743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142306160	chr1:223831759-223831760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150157418	chr1:223831849-223831850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10495210	chr1:223831860-223831861	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs567650781	chr1:223831926-223831927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs10495211	chr1:223831945-223831946	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550309821	chr1:223831963-223831964	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs10495212	chr1:223831990-223831991	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	20808228	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Leukoplakia	24403051	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223822200-223833400	Weak transcription	Pancreas	Pancrea
2	chr1:223828200-223833400	Weak transcription	Colonic Mucosa	Colon
3	chr1:223828800-223834000	Weak transcription	Fetal Stomach	stomach
4	chr1:223829400-223834000	Weak transcription	Lung	lung
5	chr1:223829800-223834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:223830200-223834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:223830400-223833200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:223830400-223833400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:223830400-223841800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:223830800-223831400	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:223830800-223831400	Enhancers	Gastric	stomach
12	chr1:223831000-223833000	Weak transcription	Stomach Mucosa	stomach
13	chr1:223831000-223833200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:223831400-223833200	Weak transcription	Gastric	stomach

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