Variant report

Variant	esv2829881
Chromosome Location	chr1:158493726-158497572
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	chr1:158216395..158217146-chr1:158496757..158497397,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:171 , 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	rs7548349	chr1:158493726-158493727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190237107	chr1:158493772-158493773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs28564905	chr1:158493819-158493820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76881706	chr1:158493830-158493831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561438834	chr1:158493847-158493848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7514968	chr1:158493852-158493853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540246866	chr1:158493863-158493864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7525362	chr1:158493890-158493891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181374027	chr1:158493891-158493892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550859410	chr1:158493926-158493927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186040753	chr1:158493940-158493941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530324158	chr1:158493954-158493955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531015111	chr1:158493957-158493958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548445970	chr1:158493962-158493963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566578447	chr1:158493963-158493964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550832406	chr1:158493983-158493984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117036258	chr1:158493986-158493987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533637052	chr1:158493994-158493995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558614069	chr1:158494079-158494080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7515245	chr1:158494110-158494111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144484488	chr1:158494123-158494124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139712834	chr1:158494144-158494145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574600531	chr1:158494168-158494169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10797022	chr1:158494193-158494194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553650396	chr1:158494211-158494212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546596541	chr1:158494214-158494215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573319791	chr1:158494243-158494244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190513769	chr1:158494301-158494302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564982780	chr1:158494306-158494307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76630642	chr1:158494408-158494409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79607990	chr1:158494416-158494417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563198292	chr1:158494456-158494457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530301342	chr1:158494477-158494478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548799529	chr1:158494499-158494500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566930682	chr1:158494513-158494514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527430095	chr1:158494548-158494549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552292762	chr1:158494562-158494563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183766589	chr1:158494563-158494564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537845564	chr1:158494564-158494565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556169664	chr1:158494599-158494600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568361687	chr1:158494634-158494635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371763934	chr1:158494635-158494636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535369380	chr1:158494639-158494640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553959144	chr1:158494660-158494661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374848531	chr1:158494662-158494663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12145401	chr1:158494693-158494694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116330998	chr1:158494748-158494749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186984616	chr1:158494749-158494750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192319206	chr1:158494753-158494754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544220876	chr1:158494765-158494766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	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
Systemic lupus erythematosus	21956041	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Type 2 diabetes	19141583	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
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21045282	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158491800-158496800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr1:158491800-158497400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:158492000-158497200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:158495800-158497400	Enhancers	Dnd41	blood
5	chr1:158496800-158498200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:158497000-158498000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:158497200-158497600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:158497200-158498000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:158497400-158497600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:158497400-158498000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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