Variant report

Variant	esv1814266
Chromosome Location	chr1:194423891-194453253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
2	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
3	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
4	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
5	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
6	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
7	chr1:194450165..194451814-chr1:194453131..194454944,2	MCF-7	breast:
8	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
9	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:

No data

Extended variants
information (count: 168 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs190171687	chr1:194437212-194437213	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs4319304	chr1:194437243-194437244	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181139178	chr1:194437284-194437285	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs567024257	chr1:194437291-194437292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537519216	chr1:194437364-194437365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs113393825	chr1:194437432-194437433	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs77488269	chr1:194437465-194437466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs371736772	chr1:194437549-194437550	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74964969	chr1:194437552-194437553	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs137901444	chr1:194437593-194437594	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569621480	chr1:194437600-194437601	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144811055	chr1:194443247-194443248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377202555	chr1:194443249-194443250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559029348	chr1:194443300-194443301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577231958	chr1:194443308-194443309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541619756	chr1:194443334-194443335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560576778	chr1:194443336-194443337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139682911	chr1:194443347-194443348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574972485	chr1:194443355-194443356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190416299	chr1:194443360-194443361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142856478	chr1:194443371-194443372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146083724	chr1:194443445-194443446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549775908	chr1:194443477-194443478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193104655	chr1:194443523-194443524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140032571	chr1:194443555-194443556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185364833	chr1:194443563-194443564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189771161	chr1:194443590-194443591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142291350	chr1:194443597-194443598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202014309	chr1:194443636-194443637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543194305	chr1:194443645-194443646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548104963	chr1:194443684-194443685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151242972	chr1:194443788-194443789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139666014	chr1:194443798-194443799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149743355	chr1:194443815-194443816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34780312	chr1:194443853-194443854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557986310	chr1:194443889-194443890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570926158	chr1:194443890-194443891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534851033	chr1:194443895-194443896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553423040	chr1:194443919-194443920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547636442	chr1:194443929-194443930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12061101	chr1:194443932-194443933	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111803511	chr1:194443933-194443934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141281626	chr1:194443945-194443946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543416620	chr1:194443968-194443969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185536045	chr1:194443972-194443973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61817712	chr1:194443994-194443995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113859873	chr1:194444027-194444028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146962637	chr1:194444085-194444086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529858819	chr1:194444097-194444098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547944663	chr1:194444121-194444122	Enhancers	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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194437200-194437600	Active TSS	Right Atrium	heart
2	chr1:194443200-194444400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:194443200-194444400	Enhancers	Fetal Brain Male	brain
4	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:194443800-194444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:194444000-194444200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:194444400-194445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:194445800-194446600	Enhancers	Fetal Heart	heart
11	chr1:194446200-194446800	Enhancers	Rectal Smooth Muscle	rectum
12	chr1:194446400-194447600	Enhancers	Primary B cells from cord blood	blood
13	chr1:194446600-194446800	Enhancers	Right Ventricle	heart

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