Variant report

Variant	esv2762039
Chromosome Location	chr1:192944821-192949840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192944889..192949055-chr1:192952758..192955789,3	K562	blood:
2	chr1:192919620..192921287-chr1:192946637..192948613,2	K562	blood:
3	chr1:192945670..192948268-chr1:192951433..192953649,3	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs368012658	chr1:192944902-192944903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192342355	chr1:192944909-192944910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565872958	chr1:192944946-192944947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56298257	chr1:192944979-192944980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184691777	chr1:192945054-192945055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537152496	chr1:192945056-192945057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56822472	chr1:192945057-192945058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs190544583	chr1:192945058-192945059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75846455	chr1:192945133-192945134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34916855	chr1:192945143-192945144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556120842	chr1:192945154-192945155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148781163	chr1:192945161-192945162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535298716	chr1:192945172-192945173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558190724	chr1:192945199-192945200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577956535	chr1:192945245-192945246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543938815	chr1:192945293-192945294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7553594	chr1:192945347-192945348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs6701258	chr1:192945348-192945349	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs375174658	chr1:192945399-192945400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34905724	chr1:192945440-192945441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181771200	chr1:192945443-192945444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185281450	chr1:192945451-192945452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141466071	chr1:192945520-192945521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551213769	chr1:192945533-192945534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564939832	chr1:192945546-192945547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9427562	chr1:192945612-192945613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs550684358	chr1:192945628-192945629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576744118	chr1:192945654-192945655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7546076	chr1:192945673-192945674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559475007	chr1:192945714-192945715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189721188	chr1:192945769-192945770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181320053	chr1:192945779-192945780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566234611	chr1:192945845-192945846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542036284	chr1:192945940-192945941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11451411	chr1:192945973-192945974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34326954	chr1:192945974-192945975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397739716	chr1:192945980-192945981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535389913	chr1:192946048-192946049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530623164	chr1:192946061-192946062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552421363	chr1:192946128-192946129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564241121	chr1:192946132-192946133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs577998805	chr1:192946149-192946150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs36126494	chr1:192946155-192946156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398074526	chr1:192946160-192946161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs397719778	chr1:192946161-192946162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547418102	chr1:192946174-192946175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112722422	chr1:192946180-192946181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557296828	chr1:192946188-192946189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150858371	chr1:192946259-192946260	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs185141721	chr1:192946287-192946288	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192937800-192946600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
4	chr1:192939200-192946400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:192940600-192947600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:192944000-192948600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:192944000-192949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:192944000-192951400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
12	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:192944400-192949600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:192944400-192962800	Weak transcription	Osteobl	bone
15	chr1:192944800-192946200	Enhancers	K562	blood
16	chr1:192945800-192946400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:192945800-192946400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:192945800-192947400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr1:192945800-192948200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:192946000-192947200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr1:192946200-192947600	Flanking Active TSS	K562	blood
22	chr1:192946400-192947000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:192946400-192947000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:192946400-192947000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:192946400-192947400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:192946400-192947400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:192946400-192947800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:192946400-192948400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:192946600-192946800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:192946600-192947600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:192946800-192947400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:192947000-192947400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:192947200-192948400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:192947400-192947600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:192947400-192947600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:192947400-192947600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr1:192947400-192947600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:192947400-192947800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:192947600-192947800	Enhancers	Duodenum Mucosa	Duodenum
41	chr1:192947600-192948600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:192947600-192948600	Enhancers	K562	blood
43	chr1:192947600-192952600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:192947800-192948600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:192948200-192948600	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr1:192948400-192948800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr1:192948600-192948800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:192948600-192949200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr1:192948600-192949800	Weak transcription	K562	blood

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