Variant report

Variant	esv1007075
Chromosome Location	chr2:183096336-183103221
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	chr2:183103040..183104711-chr2:183106820..183108898,2	K562	blood:

Extended variants
information (count: 245 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs149850055	chr2:183096361-183096362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6760081	chr2:183096406-183096407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187373195	chr2:183096434-183096435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111377205	chr2:183096438-183096439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1835880	chr2:183096459-183096460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572707273	chr2:183096477-183096478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532591180	chr2:183096478-183096479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538420881	chr2:183096513-183096514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192258929	chr2:183096687-183096688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547532665	chr2:183096716-183096717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2623438	chr2:183096746-183096747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2623437	chr2:183096774-183096775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563580355	chr2:183096793-183096794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574073452	chr2:183096798-183096799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543353389	chr2:183096818-183096819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199884611	chr2:183096831-183096832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143098865	chr2:183096854-183096855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535190577	chr2:183096914-183096915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565452336	chr2:183096936-183096937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556932526	chr2:183097106-183097107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58264204	chr2:183097107-183097108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550639505	chr2:183097132-183097133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372074828	chr2:183097197-183097198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59076821	chr2:183097226-183097227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73977313	chr2:183097231-183097232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546514794	chr2:183097336-183097337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185410450	chr2:183097472-183097473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538532542	chr2:183097522-183097523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576685470	chr2:183097613-183097614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558500012	chr2:183097629-183097630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1481630	chr2:183097705-183097706	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs537188947	chr2:183097720-183097721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs151160741	chr2:183097734-183097735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574103977	chr2:183097783-183097784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2568660	chr2:183097846-183097847	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140353329	chr2:183097875-183097876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2116635	chr2:183097883-183097884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540829974	chr2:183097950-183097951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573607010	chr2:183098062-183098063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559090828	chr2:183098079-183098080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13413938	chr2:183098136-183098137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565377940	chr2:183098168-183098169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531090792	chr2:183098198-183098199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112040873	chr2:183098229-183098230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190287487	chr2:183098231-183098232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1432518	chr2:183098237-183098238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182582889	chr2:183098267-183098268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1432519	chr2:183098268-183098269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs546224894	chr2:183098307-183098308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1347079	chr2:183098331-183098332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:183088000-183105800	Weak transcription	Aorta	Aorta
3	chr2:183088000-183106000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:183094200-183098200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:183095800-183103000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183095800-183106000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:183096000-183102400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:183096000-183103600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183096200-183096800	Weak transcription	Osteobl	bone
10	chr2:183096800-183097000	Enhancers	Osteobl	bone
11	chr2:183097400-183098200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:183098200-183105800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:183098400-183099400	Enhancers	Fetal Brain Male	brain
14	chr2:183099400-183107200	Weak transcription	Fetal Brain Male	brain
15	chr2:183100200-183101800	Weak transcription	Fetal Stomach	stomach
16	chr2:183100600-183105800	Weak transcription	Right Ventricle	heart
17	chr2:183101800-183102600	Strong transcription	Fetal Stomach	stomach
18	chr2:183102400-183105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:183102600-183105800	Weak transcription	Fetal Stomach	stomach
20	chr2:183103000-183105000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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