Variant report

Variant	esv2762035
Chromosome Location	chr1:189970368-189986426
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	chr1:189955705..189957975-chr1:189976972..189978590,2	K562	blood:

Extended variants
information (count: 205 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10920277	chr1:189970368-189970369	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141673828	chr1:189970387-189970388	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10920278	chr1:189970400-189970401	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
4	rs147057429	chr1:189970413-189970414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs561732076	chr1:189970414-189970415	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77802562	chr1:189970462-189970463	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540688763	chr1:189970484-189970485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563858364	chr1:189970489-189970490	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77683556	chr1:189970506-189970507	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10920279	chr1:189970519-189970520	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs12145507	chr1:189970529-189970530	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73050790	chr1:189970565-189970566	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549654350	chr1:189970591-189970592	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566099847	chr1:189970666-189970667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535249403	chr1:189970677-189970678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4393159	chr1:189970681-189970682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61819003	chr1:189970743-189970744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs571748998	chr1:189970770-189970771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141271730	chr1:189970825-189970826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557071732	chr1:189970826-189970827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561077735	chr1:189970849-189970850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12097514	chr1:189970873-189970874	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535344780	chr1:189970890-189970891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187801753	chr1:189970961-189970962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75052127	chr1:189970965-189970966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554781007	chr1:189979001-189979002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574588591	chr1:189979060-189979061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540331059	chr1:189979118-189979119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6427929	chr1:189979144-189979145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs111810292	chr1:189979147-189979148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540140623	chr1:189979240-189979241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549538882	chr1:189979246-189979247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369673041	chr1:189979273-189979274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77093958	chr1:189979295-189979296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111326910	chr1:189979300-189979301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373548481	chr1:189979317-189979318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144748971	chr1:189979338-189979339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6677555	chr1:189979349-189979350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs529770538	chr1:189979397-189979398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559991609	chr1:189983003-189983004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528583363	chr1:189983044-189983045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12029208	chr1:189983057-189983058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565265121	chr1:189983062-189983063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12127156	chr1:189983063-189983064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190235740	chr1:189983090-189983091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201766213	chr1:189983107-189983108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386369103	chr1:189983108-189983109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376240411	chr1:189983110-189983111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71123053	chr1:189983111-189983112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11585559	chr1:189983123-189983124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189969400-189970600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:189969600-189970600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:189969600-189970600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:189969600-189970600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:189969600-189970600	Flanking Active TSS	A549	lung
6	chr1:189969800-189970400	Enhancers	Hela-S3	cervix
7	chr1:189970000-189970400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:189970200-189971000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:189970400-189970600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:189970600-189970800	Enhancers	A549	lung
11	chr1:189979000-189979400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:189983000-189986200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:189985800-189986600	Enhancers	A549	lung

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