Variant report

Variant	esv19235
Chromosome Location	chr2:33989554-33994164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 232 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544694712	chr2:33989554-33989555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12712359	chr2:33989562-33989563	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570513195	chr2:33989571-33989572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149664361	chr2:33989574-33989575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4564755	chr2:33989581-33989582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573351338	chr2:33989582-33989583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370883666	chr2:33989585-33989586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547799249	chr2:33989586-33989587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542439346	chr2:33989589-33989590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555155965	chr2:33989590-33989591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575379701	chr2:33989592-33989593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386389890	chr2:33989600-33989601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35542668	chr2:33989603-33989604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5025564	chr2:33989652-33989653	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs564025233	chr2:33989667-33989668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5025563	chr2:33989670-33989671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs2030545	chr2:33989680-33989681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs181999037	chr2:33989701-33989702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146709747	chr2:33989733-33989734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4350722	chr2:33989737-33989738	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375591168	chr2:33989746-33989747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532874439	chr2:33989749-33989750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575539572	chr2:33989783-33989784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547452963	chr2:33989788-33989789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28409408	chr2:33989801-33989802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562363724	chr2:33989804-33989805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201857375	chr2:33989835-33989836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2030544	chr2:33989852-33989853	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186593024	chr2:33989856-33989857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377371287	chr2:33989869-33989870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570501045	chr2:33989870-33989871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4597504	chr2:33989871-33989872	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190161879	chr2:33989890-33989891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567190410	chr2:33989923-33989924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535792081	chr2:33989930-33989931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555903130	chr2:33989939-33989940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575913700	chr2:33990024-33990025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114440043	chr2:33990056-33990057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538061272	chr2:33990075-33990076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4670939	chr2:33990088-33990089	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs370679155	chr2:33990204-33990205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540257719	chr2:33990221-33990222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559907311	chr2:33990222-33990223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374572976	chr2:33990230-33990231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139178496	chr2:33990239-33990240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542560713	chr2:33990240-33990241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13411938	chr2:33990243-33990244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531440380	chr2:33990251-33990252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550655300	chr2:33990311-33990312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564266540	chr2:33990316-33990317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33987000-34000200	Weak transcription	Gastric	stomach
2	chr2:33988000-33992200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:33988200-33991200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:33988400-33989800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:33988400-33991000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:33988800-33989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:33988800-33990000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:33988800-33991000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:33989200-33989600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:33989400-33990000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:33989600-33990200	Enhancers	Fetal Kidney	kidney
12	chr2:33989600-33990400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:33989800-33990000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:33989800-33990200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:33989800-33990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr2:33989800-33990600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:33989800-33990800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr2:33989800-33990800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr2:33989800-33990800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:33990000-33990600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:33990000-33990800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:33990400-33991400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:33990400-33995000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:33990800-33995200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:33991400-33991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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