Variant report

Variant	esv3370591
Chromosome Location	chr1:191465129-191469027
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	chr1:191466190..191469106-chr1:191473353..191475090,2	K562	blood:
2	chr1:191461107..191464086-chr1:191468254..191471199,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531526833	chr1:191465161-191465162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556060273	chr1:191465215-191465216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149768397	chr1:191465284-191465285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145718713	chr1:191465342-191465343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560335836	chr1:191465390-191465391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149104671	chr1:191465515-191465516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192949873	chr1:191465533-191465534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550803871	chr1:191465546-191465547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368809142	chr1:191465547-191465548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571393486	chr1:191465591-191465592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532567865	chr1:191465614-191465615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546493111	chr1:191465667-191465668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142222499	chr1:191465669-191465670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375142039	chr1:191465703-191465704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1338033	chr1:191465731-191465732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs548807099	chr1:191465749-191465750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372796384	chr1:191465821-191465822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375463624	chr1:191465822-191465823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113930064	chr1:191465831-191465832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146381731	chr1:191465846-191465847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7534263	chr1:191465926-191465927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182534986	chr1:191465928-191465929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374065050	chr1:191465929-191465930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570322509	chr1:191465949-191465950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554643260	chr1:191465974-191465975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539432616	chr1:191466151-191466152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555997823	chr1:191466227-191466228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567165378	chr1:191466251-191466252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552887580	chr1:191466305-191466306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372978910	chr1:191466554-191466555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576087283	chr1:191466573-191466574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187531657	chr1:191466648-191466649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147813455	chr1:191466680-191466681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559211183	chr1:191466689-191466690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12043404	chr1:191466695-191466696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115936298	chr1:191466733-191466734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554264470	chr1:191466738-191466739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577132834	chr1:191466765-191466766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12036411	chr1:191466804-191466805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs563132128	chr1:191466821-191466822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192148377	chr1:191466858-191466859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559357095	chr1:191466910-191466911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377531921	chr1:191466982-191466983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562118339	chr1:191467025-191467026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527905955	chr1:191467028-191467029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34538752	chr1:191467029-191467030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541898006	chr1:191467160-191467161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547141451	chr1:191467169-191467170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538693994	chr1:191467236-191467237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564217440	chr1:191467242-191467243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21510904	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Parathyroid adenoma	20824076	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191465000-191467800	Weak transcription	HUVEC	blood vessel
2	chr1:191465200-191465600	Enhancers	Fetal Heart	heart
3	chr1:191465200-191465600	Enhancers	K562	blood
4	chr1:191467600-191468200	Enhancers	A549	lung
5	chr1:191467800-191468200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:191467800-191468200	Enhancers	HUVEC	blood vessel

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