Variant report

Variant	nsv945318
Chromosome Location	chr1:224206875-224210655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189448997	chr1:224206898-224206899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112178673	chr1:224206901-224206902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548765772	chr1:224206961-224206962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181639113	chr1:224207024-224207025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2995579	chr1:224207027-224207028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537495221	chr1:224207107-224207108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559053519	chr1:224207131-224207132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3958419	chr1:224207158-224207159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3991814	chr1:224207177-224207178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149543285	chr1:224207182-224207183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3991837	chr1:224207185-224207186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144034388	chr1:224207187-224207188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16860007	chr1:224207190-224207191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3991836	chr1:224207193-224207194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572279563	chr1:224207223-224207224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186021235	chr1:224207226-224207227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3991835	chr1:224207258-224207259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3958418	chr1:224207349-224207350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542530842	chr1:224207384-224207385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181913939	chr1:224207395-224207396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201220151	chr1:224207405-224207406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575837552	chr1:224207415-224207416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144676653	chr1:224207427-224207428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575881201	chr1:224207429-224207430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186110945	chr1:224207463-224207464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545281137	chr1:224207644-224207645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531988238	chr1:224207704-224207705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558151201	chr1:224207939-224207940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547339112	chr1:224207943-224207944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559101933	chr1:224207962-224207963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530376511	chr1:224208000-224208001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548901025	chr1:224208025-224208026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368604651	chr1:224208034-224208035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371288582	chr1:224208041-224208042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570258253	chr1:224208074-224208075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531172099	chr1:224208096-224208097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72470454	chr1:224208117-224208118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570952735	chr1:224208122-224208123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553094855	chr1:224208219-224208220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs578025341	chr1:224208262-224208263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201725505	chr1:224208312-224208313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534830209	chr1:224208337-224208338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553300462	chr1:224208340-224208341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568126559	chr1:224208358-224208359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2995577	chr1:224208451-224208452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536097657	chr1:224208466-224208467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200063006	chr1:224208473-224208474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2995576	chr1:224208486-224208487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575815285	chr1:224208503-224208504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201887334	chr1:224208518-224208519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224204000-224207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:224204200-224207200	Weak transcription	Adipose Nuclei	Adipose
3	chr1:224204200-224208600	Weak transcription	Liver	Liver
4	chr1:224204200-224209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:224204200-224210400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:224204200-224210400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:224204400-224207000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:224207200-224207400	Enhancers	Adipose Nuclei	Adipose
9	chr1:224207200-224210000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:224210000-224210200	Enhancers	Ovary	ovary
11	chr1:224210000-224210400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:224210000-224210600	Enhancers	NHDF-Ad	bronchial
13	chr1:224210400-224210600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:224210600-224214400	Weak transcription	NHDF-Ad	bronchial

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