Variant report

Variant	nsv819267
Chromosome Location	chr1:169004214-169011821
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169011315..169013346-chr1:169073573..169076306,2	MCF-7	breast:
2	chr1:169002947..169004749-chr1:169074616..169077346,2	MCF-7	breast:
3	chr1:168989938..168992606-chr1:169002403..169004343,2	MCF-7	breast:
4	chr1:169009225..169011736-chr1:169075925..169078237,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143153	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535120840	chr1:169004215-169004216	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138467735	chr1:169004290-169004291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376872299	chr1:169004319-169004320	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12118081	chr1:169004329-169004330	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs140882871	chr1:169004371-169004372	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73045886	chr1:169004385-169004386	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78828824	chr1:169004412-169004413	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs546748417	chr1:169004427-169004428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567896582	chr1:169004433-169004434	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10919038	chr1:169004467-169004468	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182347919	chr1:169004526-169004527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187099810	chr1:169004610-169004611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539377590	chr1:169004631-169004632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148138224	chr1:169004633-169004634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560637305	chr1:169004636-169004637	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533631387	chr1:169004685-169004686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556030827	chr1:169004717-169004718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574276593	chr1:169004732-169004733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541488248	chr1:169009257-169009258	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563547894	chr1:169009261-169009262	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs76048433	chr1:169009275-169009276	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs546223445	chr1:169009288-169009289	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564787970	chr1:169009304-169009305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528507096	chr1:169009332-169009333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547040690	chr1:169009362-169009363	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4656642	chr1:169009374-169009375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs373626465	chr1:169009391-169009392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184639670	chr1:169009417-169009418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs115161502	chr1:169009456-169009457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569797354	chr1:169009474-169009475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11804664	chr1:169009510-169009511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35306616	chr1:169009524-169009525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189901259	chr1:169009534-169009535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs74493248	chr1:169009537-169009538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377025351	chr1:169009558-169009559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369786744	chr1:169009579-169009580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs552562776	chr1:169009580-169009581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181671024	chr1:169009610-169009611	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529039820	chr1:169009631-169009632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143298357	chr1:169009697-169009698	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369136765	chr1:169009787-169009788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2982464	chr1:169009788-169009789	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72693505	chr1:169009797-169009798	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184640747	chr1:169009803-169009804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527436800	chr1:169009822-169009823	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147046469	chr1:169009836-169009837	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540889817	chr1:169009870-169009871	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536076597	chr1:169009926-169009927	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs189452245	chr1:169009938-169009939	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs551135922	chr1:169009993-169009994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Lung cancer	18438408	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
Myelofibrosis	22110671	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169009800-169010800	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr1:169010000-169015000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:169010200-169011600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:169010800-169011000	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:169010800-169011200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:169010800-169013600	Enhancers	Fetal Heart	heart
7	chr1:169011000-169011800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:169011000-169011800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr1:169011000-169012000	Enhancers	Brain Angular Gyrus	brain
10	chr1:169011000-169014800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:169011200-169013000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:169011400-169011800	Enhancers	Brain Substantia Nigra	brain
13	chr1:169011400-169012800	Enhancers	Colon Smooth Muscle	Colon
14	chr1:169011600-169011800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:169011600-169011800	Enhancers	Psoas Muscle	Psoas
16	chr1:169011600-169011800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:169011600-169012000	Enhancers	Brain Cingulate Gyrus	brain
18	chr1:169011600-169012600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:169011600-169012600	Enhancers	Dnd41	blood
20	chr1:169011800-169013600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:169011800-169014400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:169011800-169014400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:169011800-169014800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:169011800-169017400	Weak transcription	Brain Substantia Nigra	brain
25	chr1:169011800-169017800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:169011800-169028800	Weak transcription	Psoas Muscle	Psoas

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