Variant report

Variant	nsv548664
Chromosome Location	chr1:193938944-194000953
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193990094..193991788-chr1:193994574..193997368,2	K562	blood:
2	chr1:193937203..193939818-chr1:193949717..193951267,2	K562	blood:
3	chr1:193990094..193991788-chr1:193994574..193997368,2	K562	blood:
4	chr1:193937203..193939818-chr1:193949717..193951267,2	K562	blood:

Extended variants
information (count: 891 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:891 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs643380	chr1:193938944-193938945	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550256407	chr1:193938948-193938949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35168515	chr1:193938975-193938976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555659509	chr1:193939005-193939006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368007603	chr1:193939064-193939065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529307944	chr1:193939123-193939124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549360748	chr1:193939148-193939149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548182247	chr1:193939207-193939208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184818154	chr1:193939253-193939254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs56044926	chr1:193939257-193939258	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77557936	chr1:193939280-193939281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571412798	chr1:193939327-193939328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536806584	chr1:193939351-193939352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557022884	chr1:193939354-193939355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572838559	chr1:193939371-193939372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61832988	chr1:193939375-193939376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189749440	chr1:193939467-193939468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577802441	chr1:193939495-193939496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543833422	chr1:193939515-193939516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs588431	chr1:193939519-193939520	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs180865730	chr1:193939562-193939563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575732057	chr1:193939609-193939610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143380424	chr1:193939624-193939625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147327205	chr1:193939642-193939643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564342407	chr1:193939661-193939662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200041816	chr1:193939669-193939670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578124335	chr1:193939714-193939715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16835981	chr1:193939774-193939775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183784221	chr1:193939778-193939779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17614078	chr1:193939805-193939806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs16835983	chr1:193939811-193939812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76765999	chr1:193939842-193939843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28473356	chr1:193939880-193939881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs551710296	chr1:193939923-193939924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73053250	chr1:193939990-193939991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537272741	chr1:193940006-193940007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141566496	chr1:193940043-193940044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567383009	chr1:193940084-193940085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150884856	chr1:193940120-193940121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552589192	chr1:193940121-193940122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572513237	chr1:193940137-193940138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189306559	chr1:193940144-193940145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544909397	chr1:193940155-193940156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73053251	chr1:193940174-193940175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369925211	chr1:193940201-193940202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76018069	chr1:193940212-193940213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559815997	chr1:193940237-193940238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547155508	chr1:193940238-193940239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56247045	chr1:193940239-193940240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201180285	chr1:193940245-193940246	Weak transcription Enhancers	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
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
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
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
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193930800-193940600	Weak transcription	Fetal Heart	heart
2	chr1:193938800-193941600	Enhancers	Hela-S3	cervix
3	chr1:193939800-193941600	Enhancers	NH-A	brain
4	chr1:193940600-193941000	Enhancers	Fetal Heart	heart
5	chr1:193940600-193941400	Enhancers	NHEK	skin
6	chr1:193940600-193942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:193948200-193948600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:193950400-193952400	Active TSS	Fetal Muscle Leg	muscle
9	chr1:193956800-193957600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr1:193959400-193959600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr1:193968400-193969400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:193968400-193969600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:193969400-193972800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:193969600-193972800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:193970800-193971000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:193970800-193971200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:193972200-193972800	Enhancers	Fetal Heart	heart
18	chr1:193972800-193974200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:193972800-193974600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:193973200-193973800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:193973400-193974000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:193973400-193974000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:193974400-193974600	Enhancers	Fetal Heart	heart
24	chr1:193982600-193984000	Enhancers	NHEK	skin
25	chr1:193983000-193984000	Enhancers	Hela-S3	cervix
26	chr1:193983600-193984000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:193992600-193993200	Enhancers	Fetal Brain Male	brain
28	chr1:193993200-193995000	Enhancers	Hela-S3	cervix
29	chr1:193993400-193994600	Enhancers	NH-A	brain
30	chr1:193993600-193994400	Enhancers	NHEK	skin
31	chr1:193993600-193994600	Enhancers	HUVEC	blood vessel
32	chr1:193993800-193994200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:193993800-193994200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:193994200-193994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:193995400-193998200	Enhancers	Liver	Liver
36	chr1:193996200-193996400	Enhancers	NHEK	skin
37	chr1:193997600-193997800	Enhancers	HSMM	muscle

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