Variant report

Variant	esv2762474
Chromosome Location	chr2:35104222-35138518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
2	chr2:35124308..35126436-chr2:35127473..35129610,2	K562	blood:
3	chr2:35130362..35133238-chr2:35148535..35150812,2	K562	blood:
4	chr2:35130281..35132812-chr2:35144803..35146892,2	K562	blood:

Extended variants
information (count: 719 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561963008	chr2:35104311-35104312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192767294	chr2:35104352-35104353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537303938	chr2:35104360-35104361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs280734	chr2:35104389-35104390	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs575475281	chr2:35104401-35104402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537785654	chr2:35104409-35104410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373718709	chr2:35104415-35104416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78950923	chr2:35104439-35104440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375730286	chr2:35104453-35104454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113277031	chr2:35104472-35104473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148584258	chr2:35104496-35104497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117476723	chr2:35104515-35104516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573447562	chr2:35104584-35104585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542584625	chr2:35104585-35104586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562375500	chr2:35104601-35104602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531198238	chr2:35104667-35104668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551012352	chr2:35104674-35104675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529067359	chr2:35104682-35104683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564654892	chr2:35104685-35104686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57435004	chr2:35104706-35104707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533574814	chr2:35104719-35104720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57193065	chr2:35104821-35104822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142995785	chr2:35104832-35104833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535982794	chr2:35104852-35104853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114461261	chr2:35104924-35104925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569173431	chr2:35104943-35104944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553536816	chr2:35104952-35104953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374191364	chr2:35104993-35104994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541107320	chr2:35112415-35112416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557914256	chr2:35112424-35112425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538393767	chr2:35112447-35112448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138944020	chr2:35112476-35112477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143357969	chr2:35112494-35112495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147499006	chr2:35112507-35112508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563489942	chr2:35112536-35112537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532219564	chr2:35112557-35112558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552306940	chr2:35112563-35112564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533494603	chr2:35112571-35112572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140087224	chr2:35112576-35112577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61356939	chr2:35112597-35112598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534433362	chr2:35112598-35112599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13022960	chr2:35112603-35112604	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190870325	chr2:35112607-35112608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566936283	chr2:35112612-35112613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183062964	chr2:35112635-35112636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569916450	chr2:35112638-35112639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538704987	chr2:35112656-35112657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558616453	chr2:35112660-35112661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188150962	chr2:35112661-35112662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192953264	chr2:35112690-35112691	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35100800-35104800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:35102600-35105000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:35104800-35105000	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:35112400-35113200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr2:35113000-35113400	Active TSS	Pancreas	Pancrea
6	chr2:35116000-35116200	Enhancers	Brain Germinal Matrix	brain
7	chr2:35116000-35116200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:35116200-35117400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:35116800-35119000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:35117400-35118200	Enhancers	Brain Germinal Matrix	brain
11	chr2:35117400-35119000	Enhancers	Fetal Brain Female	brain
12	chr2:35117800-35118800	Enhancers	Brain Hippocampus Middle	brain
13	chr2:35117800-35118800	Enhancers	Colon Smooth Muscle	Colon
14	chr2:35117800-35119000	Enhancers	Brain Substantia Nigra	brain
15	chr2:35118400-35118800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:35118400-35119000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:35127400-35129200	Enhancers	Fetal Heart	heart
18	chr2:35128200-35128400	Enhancers	Colon Smooth Muscle	Colon
19	chr2:35128600-35129200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:35129000-35129200	Enhancers	Colon Smooth Muscle	Colon
21	chr2:35129000-35129200	Enhancers	Fetal Stomach	stomach
22	chr2:35129200-35130000	Weak transcription	Fetal Stomach	stomach
23	chr2:35129200-35130200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:35129600-35130000	Active TSS	Aorta	Aorta
25	chr2:35129600-35130400	Enhancers	Brain Angular Gyrus	brain
26	chr2:35130000-35130200	Enhancers	Fetal Stomach	stomach
27	chr2:35130000-35130400	Enhancers	Aorta	Aorta
28	chr2:35130200-35130400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:35130200-35134400	Weak transcription	Fetal Stomach	stomach
30	chr2:35134200-35134600	Enhancers	Fetal Kidney	kidney
31	chr2:35134400-35134800	Enhancers	Fetal Stomach	stomach
32	chr2:35134600-35135800	Weak transcription	Fetal Kidney	kidney
33	chr2:35134600-35136000	Enhancers	Brain Substantia Nigra	brain
34	chr2:35134800-35135800	Weak transcription	Fetal Stomach	stomach
35	chr2:35135200-35136000	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:35135400-35135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:35135800-35136000	Enhancers	Fetal Stomach	stomach
38	chr2:35135800-35136200	Enhancers	Brain Hippocampus Middle	brain
39	chr2:35135800-35136600	Enhancers	Fetal Kidney	kidney
40	chr2:35136800-35137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:35137000-35137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:35137400-35138400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:35138400-35138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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