Variant report

Variant	esv2608148
Chromosome Location	chr2:210507937-210509248
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552373100	chr2:210507958-210507959	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372538064	chr2:210507964-210507965	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538025903	chr2:210507972-210507973	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60138527	chr2:210507973-210507974	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183406031	chr2:210508061-210508062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367891933	chr2:210508101-210508102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2710477	chr2:210508116-210508117	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553360930	chr2:210508166-210508167	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187703494	chr2:210508171-210508172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560352672	chr2:210508199-210508200	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1949041	chr2:210508201-210508202	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575777686	chr2:210508250-210508251	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115827602	chr2:210508259-210508260	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561288786	chr2:210508264-210508265	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530291719	chr2:210508265-210508266	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77860658	chr2:210508320-210508321	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559694979	chr2:210508343-210508344	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532252055	chr2:210508361-210508362	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9288411	chr2:210508368-210508369	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192512973	chr2:210508414-210508415	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs5838178	chr2:210508417-210508418	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537689705	chr2:210508431-210508432	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139233815	chr2:210508448-210508449	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2663652	chr2:210508524-210508525	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184695928	chr2:210508533-210508534	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553426018	chr2:210508536-210508537	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535400253	chr2:210508593-210508594	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547094188	chr2:210508596-210508597	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143247480	chr2:210508602-210508603	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547784989	chr2:210508603-210508604	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558833439	chr2:210508658-210508659	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150739090	chr2:210508709-210508710	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544490392	chr2:210508716-210508717	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554698989	chr2:210508761-210508762	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534205945	chr2:210508762-210508763	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574816928	chr2:210508816-210508817	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139103792	chr2:210508868-210508869	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35018040	chr2:210508887-210508888	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559235820	chr2:210508904-210508905	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2663651	chr2:210508930-210508931	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369522115	chr2:210508952-210508953	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386654670	chr2:210508978-210508979	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2663650	chr2:210508980-210508981	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531394886	chr2:210508983-210508984	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548407481	chr2:210509040-210509041	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568232959	chr2:210509056-210509057	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527599702	chr2:210509058-210509059	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547741970	chr2:210509062-210509063	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545950452	chr2:210509081-210509082	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570722199	chr2:210509109-210509110	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Developmental delay	21147756	CNVD
Mantle cell lymphoma	21518781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210494800-210517800	Weak transcription	Aorta	Aorta
2	chr2:210501000-210517800	Weak transcription	Fetal Brain Female	brain
3	chr2:210501200-210508000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210501200-210516200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:210501800-210517800	Weak transcription	Brain Germinal Matrix	brain
6	chr2:210502800-210508000	Enhancers	HMEC	breast
7	chr2:210503000-210508000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:210503000-210508400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:210503600-210517800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:210504600-210508200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:210504800-210508400	Enhancers	NHEK	skin
12	chr2:210505000-210508800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:210506600-210508000	Enhancers	Hela-S3	cervix
14	chr2:210506800-210508000	Enhancers	HUVEC	blood vessel
15	chr2:210507000-210508000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:210507200-210508000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:210507200-210508400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:210507200-210511400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:210507800-210517800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:210507800-210525800	Weak transcription	NH-A	brain
21	chr2:210508000-210508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:210508000-210508400	Weak transcription	HMEC	breast
23	chr2:210508000-210513200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:210508000-210519000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:210508000-210527800	Weak transcription	HUVEC	blood vessel
26	chr2:210508200-210509400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:210508400-210508600	Enhancers	HMEC	breast
28	chr2:210508400-210508800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:210508400-210509600	Weak transcription	NHEK	skin
30	chr2:210508400-210527800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:210508600-210512200	Weak transcription	HMEC	breast
32	chr2:210508800-210509600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:210508800-210510400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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