Variant report

Variant	esv275460
Chromosome Location	chr1:171996206-172001026
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	chr1:171999936..172003512-chr1:172007617..172010205,3	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540974025	chr1:171996210-171996211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114377850	chr1:171996217-171996218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549819911	chr1:171996228-171996229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571232929	chr1:171996308-171996309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368938480	chr1:171996355-171996356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138338376	chr1:171996458-171996459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558056899	chr1:171996491-171996492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567115240	chr1:171996521-171996522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200120940	chr1:171996538-171996539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556106525	chr1:171996583-171996584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368214280	chr1:171996593-171996594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544640471	chr1:171996594-171996595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149559264	chr1:171996603-171996604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11497367	chr1:171996624-171996625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545528049	chr1:171996631-171996632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560088320	chr1:171996646-171996647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374312666	chr1:171996723-171996724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539195148	chr1:171996725-171996726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34598019	chr1:171996726-171996727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61433811	chr1:171996753-171996754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113657986	chr1:171996755-171996756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112333756	chr1:171996756-171996757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58009848	chr1:171996757-171996758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200096074	chr1:171996758-171996759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386636790	chr1:171996759-171996760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113439502	chr1:171996760-171996761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58679315	chr1:171996761-171996762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190393961	chr1:171996798-171996799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549492287	chr1:171996821-171996822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571260899	chr1:171996934-171996935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141262289	chr1:171996937-171996938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569908419	chr1:171997029-171997030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182657873	chr1:171997072-171997073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4916413	chr1:171997097-171997098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371115227	chr1:171997115-171997116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115843407	chr1:171997120-171997121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12564743	chr1:171997130-171997131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191891388	chr1:171997200-171997201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538564406	chr1:171997210-171997211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs207460609	chr1:171997237-171997238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183260245	chr1:171997249-171997250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189118307	chr1:171997256-171997257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578007957	chr1:171997290-171997291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549668428	chr1:171997291-171997292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193045900	chr1:171997301-171997302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146228539	chr1:171997318-171997319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139299224	chr1:171997346-171997347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571879417	chr1:171997354-171997355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542389516	chr1:171997358-171997359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557596373	chr1:171997362-171997363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
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
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
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
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171994000-172020400	Weak transcription	Left Ventricle	heart
2	chr1:171994200-172002800	Weak transcription	Brain Anterior Caudate	brain
3	chr1:171994200-172009000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:171999000-172006800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:171999600-172002200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:171999600-172006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:172000000-172001600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:172000000-172002200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:172000000-172012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:172000400-172006800	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:172000400-172009800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:172000600-172007000	Weak transcription	Psoas Muscle	Psoas
13	chr1:172000600-172013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:172000800-172011400	Weak transcription	Right Ventricle	heart
15	chr1:172000800-172013800	Weak transcription	Fetal Brain Female	brain
16	chr1:172001000-172006800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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