Variant report

Variant	esv3452628
Chromosome Location	chr1:192860401-192861928
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:

Extended variants
information (count: 53 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540950773	chr1:192860457-192860458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182571851	chr1:192860463-192860464	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533044894	chr1:192860471-192860472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549777147	chr1:192860515-192860516	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11587297	chr1:192860565-192860566	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186482252	chr1:192860572-192860573	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529025940	chr1:192860573-192860574	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548763560	chr1:192860576-192860577	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568691225	chr1:192860615-192860616	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534356090	chr1:192860688-192860689	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554391487	chr1:192860689-192860690	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs140274057	chr1:192860700-192860701	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571187580	chr1:192860745-192860746	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs539739457	chr1:192860755-192860756	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79582195	chr1:192860771-192860772	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144044761	chr1:192860860-192860861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75527176	chr1:192860869-192860870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369651971	chr1:192860907-192860908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539825841	chr1:192860918-192860919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149043739	chr1:192860919-192860920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540864816	chr1:192861061-192861062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs67952856	chr1:192861082-192861083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368528058	chr1:192861093-192861094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563917997	chr1:192861204-192861205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577562943	chr1:192861242-192861243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543343744	chr1:192861271-192861272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376937814	chr1:192861337-192861338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563306473	chr1:192861351-192861352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528853781	chr1:192861360-192861361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549076290	chr1:192861361-192861362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559523989	chr1:192861362-192861363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528172633	chr1:192861392-192861393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192715707	chr1:192861393-192861394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548054531	chr1:192861395-192861396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571045097	chr1:192861410-192861411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540132653	chr1:192861432-192861433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550159294	chr1:192861439-192861440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184530707	chr1:192861462-192861463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146064591	chr1:192861501-192861502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535449396	chr1:192861520-192861521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143382335	chr1:192861592-192861593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375005940	chr1:192861615-192861616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572238157	chr1:192861623-192861624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189011630	chr1:192861648-192861649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372142962	chr1:192861663-192861664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11360232	chr1:192861679-192861680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373452814	chr1:192861680-192861681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1737981	chr1:192861690-192861691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs61823181	chr1:192861693-192861694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs193134246	chr1:192861801-192861802	Enhancers Weak transcription	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:18 , 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	chr1:192859200-192860600	Enhancers	Rectal Smooth Muscle	rectum
4	chr1:192859400-192860600	Enhancers	Stomach Smooth Muscle	stomach
5	chr1:192859400-192860800	Enhancers	Colon Smooth Muscle	Colon
6	chr1:192860400-192860800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:192860400-192861200	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr1:192860600-192860800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:192860600-192861800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:192860800-192861200	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:192860800-192862000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:192860800-192862000	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:192860800-192863200	Enhancers	HMEC	breast
14	chr1:192861800-192862600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:192861800-192862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:192861800-192862800	Enhancers	Rectal Smooth Muscle	rectum
17	chr1:192861800-192862800	Enhancers	NHEK	skin
18	chr1:192861800-192863200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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