Variant report

Variant	esv21097
Chromosome Location	chr2:151031148-151038204
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	chr2:151015327..151017230-chr2:151030179..151032620,2	K562	blood:

Extended variants
information (count: 224 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:224 , 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	rs13398021	chr2:151031197-151031198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77495416	chr2:151031203-151031204	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564767114	chr2:151031247-151031248	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561970640	chr2:151031275-151031276	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532187991	chr2:151031329-151031330	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs552188982	chr2:151031337-151031338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372545011	chr2:151031342-151031343	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569004135	chr2:151031402-151031403	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190378250	chr2:151031440-151031441	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144859062	chr2:151031457-151031458	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs568246308	chr2:151031459-151031460	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533742978	chr2:151031666-151031667	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554074191	chr2:151031782-151031783	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570396004	chr2:151031820-151031821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2376605	chr2:151031897-151031898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556160609	chr2:151031911-151031912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575994149	chr2:151031996-151031997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542318863	chr2:151032007-151032008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181210094	chr2:151032054-151032055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35276767	chr2:151032129-151032130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564681076	chr2:151032182-151032183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541840204	chr2:151032187-151032188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548145726	chr2:151032191-151032192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186339795	chr2:151032248-151032249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558943434	chr2:151032249-151032250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147320819	chr2:151032260-151032261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113131744	chr2:151032271-151032272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62169994	chr2:151032272-151032273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35041936	chr2:151032273-151032274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35697795	chr2:151032275-151032276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62169995	chr2:151032276-151032277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544103212	chr2:151032287-151032288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190937590	chr2:151032292-151032293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148512053	chr2:151032301-151032302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4602244	chr2:151032314-151032315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6710457	chr2:151032316-151032317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs71413683	chr2:151032348-151032349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1823092	chr2:151032411-151032412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182835739	chr2:151032429-151032430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531158960	chr2:151032432-151032433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187357896	chr2:151032473-151032474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541730772	chr2:151032484-151032485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559747082	chr2:151032505-151032506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34086261	chr2:151032518-151032519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568052424	chr2:151032573-151032574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569938094	chr2:151032617-151032618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148584146	chr2:151032618-151032619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570283456	chr2:151032629-151032630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147808256	chr2:151032657-151032658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191100357	chr2:151032661-151032662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151026600-151031200	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:151029200-151031400	Enhancers	A549	lung
3	chr2:151029400-151031400	Enhancers	Liver	Liver
4	chr2:151030600-151031400	Enhancers	Fetal Kidney	kidney
5	chr2:151030600-151031400	Enhancers	HUVEC	blood vessel
6	chr2:151030600-151031800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:151030600-151032000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:151030600-151032200	Enhancers	Fetal Lung	lung
9	chr2:151030800-151031200	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr2:151030800-151032200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:151030800-151032400	Enhancers	Fetal Intestine Large	intestine
12	chr2:151031200-151031600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:151031200-151031600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:151031400-151031800	Flanking Active TSS	Liver	Liver
15	chr2:151031400-151031800	Weak transcription	Fetal Kidney	kidney
16	chr2:151031400-151031800	Flanking Active TSS	A549	lung
17	chr2:151031600-151031800	Enhancers	HSMMtube	muscle
18	chr2:151031600-151032000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:151031600-151032000	Enhancers	HSMM	muscle
20	chr2:151031600-151034800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:151031800-151032000	Enhancers	Fetal Kidney	kidney
22	chr2:151031800-151032000	Enhancers	A549	lung
23	chr2:151031800-151032200	Enhancers	Liver	Liver
24	chr2:151031800-151032200	Enhancers	Duodenum Mucosa	Duodenum
25	chr2:151031800-151032200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:151031800-151032200	Enhancers	Fetal Intestine Small	intestine
27	chr2:151032000-151033200	Weak transcription	Fetal Kidney	kidney
28	chr2:151032000-151034800	Weak transcription	A549	lung
29	chr2:151032000-151035000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:151032200-151033000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:151032200-151033200	Weak transcription	Liver	Liver
32	chr2:151032200-151035200	Weak transcription	Fetal Lung	lung
33	chr2:151032200-151035400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:151032400-151032800	Weak transcription	Fetal Intestine Large	intestine
35	chr2:151032800-151033400	Enhancers	Fetal Intestine Large	intestine
36	chr2:151033000-151033200	Enhancers	Fetal Intestine Small	intestine
37	chr2:151033200-151033400	Enhancers	Liver	Liver
38	chr2:151033200-151033400	Enhancers	Fetal Kidney	kidney
39	chr2:151033200-151035600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:151033400-151034800	Weak transcription	Liver	Liver
41	chr2:151033400-151034800	Weak transcription	Fetal Intestine Large	intestine
42	chr2:151033400-151035200	Weak transcription	Fetal Kidney	kidney
43	chr2:151034800-151035000	Enhancers	A549	lung
44	chr2:151034800-151035800	Enhancers	Liver	Liver
45	chr2:151034800-151035800	Enhancers	Fetal Intestine Large	intestine
46	chr2:151034800-151035800	Enhancers	Hela-S3	cervix
47	chr2:151035000-151035400	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr2:151035000-151035600	Weak transcription	A549	lung
49	chr2:151035200-151035400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:151035200-151035600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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