Variant report

Variant	esv3390055
Chromosome Location	chr1:192859229-192863127
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	chr1:192809794..192812328-chr1:192861715..192864449,2	K562	blood:
2	chr1:192862078..192864210-chr1:194807394..194809070,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376598249	chr1:192859313-192859314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192104651	chr1:192859341-192859342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538402899	chr1:192859381-192859382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369155044	chr1:192859399-192859400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554849445	chr1:192859400-192859401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139939608	chr1:192859407-192859408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375417346	chr1:192859428-192859429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182841157	chr1:192859431-192859432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143924409	chr1:192859449-192859450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147232419	chr1:192859512-192859513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546341618	chr1:192859516-192859517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs372935648	chr1:192859542-192859543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148718879	chr1:192859554-192859555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545408593	chr1:192859589-192859590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531693951	chr1:192859615-192859616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548389899	chr1:192859617-192859618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560516322	chr1:192859654-192859655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187480343	chr1:192859667-192859668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527618684	chr1:192859751-192859752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547251105	chr1:192859813-192859814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570117715	chr1:192859872-192859873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532741134	chr1:192859890-192859891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376038693	chr1:192859895-192859896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150601834	chr1:192859906-192859907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567033984	chr1:192859914-192859915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12140719	chr1:192860043-192860044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143416736	chr1:192860084-192860085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555193111	chr1:192860137-192860138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1890974	chr1:192860144-192860145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1231754	chr1:192860152-192860153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35194837	chr1:192860172-192860173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554477144	chr1:192860251-192860252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146730948	chr1:192860256-192860257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190008012	chr1:192860279-192860280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556260124	chr1:192860304-192860305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576524113	chr1:192860345-192860346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541946745	chr1:192860360-192860361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561927210	chr1:192860365-192860366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527439826	chr1:192860389-192860390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540950773	chr1:192860457-192860458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182571851	chr1:192860463-192860464	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533044894	chr1:192860471-192860472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549777147	chr1:192860515-192860516	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11587297	chr1:192860565-192860566	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186482252	chr1:192860572-192860573	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529025940	chr1:192860573-192860574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548763560	chr1:192860576-192860577	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568691225	chr1:192860615-192860616	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534356090	chr1:192860688-192860689	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs554391487	chr1:192860689-192860690	Enhancers Weak transcription ZNF genes & repeats	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
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192843800-192861800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:192857400-192860600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:192858800-192860400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:192859200-192860600	Enhancers	Rectal Smooth Muscle	rectum
5	chr1:192859400-192860600	Enhancers	Stomach Smooth Muscle	stomach
6	chr1:192859400-192860800	Enhancers	Colon Smooth Muscle	Colon
7	chr1:192860400-192860800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:192860400-192861200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr1:192860600-192860800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:192860600-192861800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:192860800-192861200	Enhancers	Fetal Muscle Trunk	muscle
12	chr1:192860800-192862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:192860800-192862000	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:192860800-192863200	Enhancers	HMEC	breast
15	chr1:192861800-192862600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:192861800-192862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:192861800-192862800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:192861800-192862800	Enhancers	NHEK	skin
19	chr1:192861800-192863200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:192862000-192862400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:192862000-192863000	Enhancers	Colon Smooth Muscle	Colon
22	chr1:192862800-192870800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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