Variant report

Variant	esv3346122
Chromosome Location	chr1:104676790-104678604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574117717	chr1:104676841-104676842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185364775	chr1:104676895-104676896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554156241	chr1:104676916-104676917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56158312	chr1:104676941-104676942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79011847	chr1:104677002-104677003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564076987	chr1:104677026-104677027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139857547	chr1:104677032-104677033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543114666	chr1:104677115-104677116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574831562	chr1:104677147-104677148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149860177	chr1:104677152-104677153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528905247	chr1:104677200-104677201	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188234983	chr1:104677209-104677210	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370870031	chr1:104677237-104677238	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192730708	chr1:104677256-104677257	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67811026	chr1:104677258-104677259	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551973459	chr1:104677318-104677319	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145872762	chr1:104677322-104677323	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537636975	chr1:104677340-104677341	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184330285	chr1:104677353-104677354	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567758649	chr1:104677413-104677414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111980980	chr1:104677414-104677415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553362682	chr1:104677437-104677438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572371164	chr1:104677482-104677483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200015981	chr1:104677484-104677485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539323963	chr1:104677496-104677497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557946538	chr1:104677515-104677516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148999627	chr1:104677559-104677560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530157291	chr1:104677622-104677623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188337601	chr1:104677687-104677688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147036973	chr1:104677688-104677689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147656566	chr1:104677717-104677718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540630774	chr1:104677740-104677741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558895581	chr1:104677752-104677753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533461515	chr1:104677755-104677756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180986633	chr1:104677759-104677760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369176048	chr1:104677790-104677791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563987592	chr1:104677803-104677804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142476468	chr1:104677831-104677832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184812132	chr1:104677832-104677833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567769564	chr1:104677865-104677866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1932472	chr1:104677917-104677918	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376702029	chr1:104677923-104677924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552699493	chr1:104677924-104677925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571632982	chr1:104677931-104677932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539005794	chr1:104677945-104677946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375182660	chr1:104678040-104678041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576277897	chr1:104678119-104678120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536865370	chr1:104678126-104678127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28870833	chr1:104678146-104678147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189636413	chr1:104678187-104678188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:104669400-104678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:104675400-104676800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:104675400-104677800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:104675600-104676800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:104675600-104678400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:104675600-104678400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:104675600-104679200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr1:104676600-104677200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:104676800-104677400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:104676800-104679800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:104677200-104677400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:104677400-104678400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr1:104677800-104678000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:104678000-104679800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:104678000-104687000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:104678400-104678600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:104678400-104678600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:104678400-104678600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:104678400-104678800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:104678600-104679000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:104678600-104679600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links