Variant report

Variant	nsv872538
Chromosome Location	chr1:169567516-169576207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169569836..169571238-chr1:169680901..169681521,6	MCF-7	breast:
2	chr1:169570098..169571225-chr1:169663167..169664353,5	MCF-7	breast:
3	chr1:169570131..169571022-chr1:169778321..169779364,5	MCF-7	breast:
4	chr1:169562439..169565344-chr1:169568413..169571209,3	K562	blood:
5	chr1:169575727..169578687-chr1:169579163..169582225,3	K562	blood:

Extended variants
information (count: 336 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:336 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2298903	chr1:169567516-169567517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs3917793	chr1:169567545-169567546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565020722	chr1:169567553-169567554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532134973	chr1:169567572-169567573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547376491	chr1:169567584-169567585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189935040	chr1:169567688-169567689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181655208	chr1:169567796-169567797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548877209	chr1:169567805-169567806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3917792	chr1:169567832-169567833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs3917874	chr1:169567904-169567905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116106737	chr1:169567914-169567915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs60864119	chr1:169567942-169567943	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs112768925	chr1:169567965-169567966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138833929	chr1:169568030-169568031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190369168	chr1:169568056-169568057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574794197	chr1:169568125-169568126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142730224	chr1:169568146-169568147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554877564	chr1:169568160-169568161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576154909	chr1:169568182-169568183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543682726	chr1:169568201-169568202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551018013	chr1:169568307-169568308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565083721	chr1:169568319-169568320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576966341	chr1:169568359-169568360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541147614	chr1:169568360-169568361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141847995	chr1:169568364-169568365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3917791	chr1:169568423-169568424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs3917790	chr1:169568470-169568471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564053248	chr1:169568510-169568511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567676773	chr1:169568539-169568540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531000021	chr1:169568569-169568570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201849166	chr1:169568596-169568597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs3035293	chr1:169568609-169568610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552308719	chr1:169568627-169568628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3917789	chr1:169568646-169568647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534762796	chr1:169568657-169568658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs760694	chr1:169568698-169568699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs3917788	chr1:169568719-169568720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs138016577	chr1:169568722-169568723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186465719	chr1:169568829-169568830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189704199	chr1:169568847-169568848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576245102	chr1:169568890-169568891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182360575	chr1:169568906-169568907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149516190	chr1:169568939-169568940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3917787	chr1:169568958-169568959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143915558	chr1:169568989-169568990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535312830	chr1:169569034-169569035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574344649	chr1:169569056-169569057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541847555	chr1:169569057-169569058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575420474	chr1:169569068-169569069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138735090	chr1:169569082-169569083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	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
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
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169558800-169570000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:169559200-169570400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:169564000-169570200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr1:169564400-169569800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:169565200-169570400	Weak transcription	GM12878-XiMat	blood
6	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:169569800-169570600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:169569800-169576400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:169570000-169571800	Enhancers	Primary T cells from cord blood	blood
10	chr1:169570000-169574400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:169570200-169573200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:169570200-169573800	Enhancers	Dnd41	blood
13	chr1:169570200-169575200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:169570200-169575400	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:169570200-169576400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr1:169570400-169570800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:169570400-169571600	Enhancers	GM12878-XiMat	blood
18	chr1:169570400-169571600	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr1:169570400-169572200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr1:169570400-169573800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:169570400-169573800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:169570400-169574000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:169570400-169574200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:169570400-169574200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:169570400-169574400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:169570400-169576600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:169570600-169571600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:169570600-169571600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr1:169570600-169573000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:169570600-169573200	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:169570600-169573800	Enhancers	Primary B cells from cord blood	blood
33	chr1:169570800-169571800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:169570800-169572800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:169571600-169571800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr1:169571600-169573600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:169571600-169573800	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:169571600-169573800	Weak transcription	GM12878-XiMat	blood
39	chr1:169571800-169572200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:169571800-169572200	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr1:169571800-169573200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:169572200-169572400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr1:169572200-169572400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:169572200-169573000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr1:169572200-169573200	Enhancers	Fetal Thymus	thymus
46	chr1:169572200-169573800	Enhancers	Primary T cells from cord blood	blood
47	chr1:169572400-169572600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr1:169572400-169574000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:169572600-169572800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr1:169572800-169573800	Enhancers	Primary neutrophils fromperipheralblood	blood

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