Variant report

Variant	esv2471955
Chromosome Location	chr2:210179864-210181413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563783278	chr2:210179869-210179870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148649711	chr2:210179871-210179872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549359597	chr2:210179872-210179873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566354823	chr2:210179905-210179906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190032877	chr2:210179914-210179915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559975049	chr2:210179945-210179946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533610293	chr2:210179953-210179954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570875676	chr2:210180008-210180009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116437018	chr2:210180017-210180018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142114574	chr2:210180065-210180066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567067772	chr2:210180076-210180077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs151158324	chr2:210180113-210180114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181319448	chr2:210180140-210180141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573073296	chr2:210180150-210180151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544950057	chr2:210180206-210180207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185932677	chr2:210180220-210180221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73056328	chr2:210180273-210180274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79197468	chr2:210180276-210180277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563770289	chr2:210180325-210180326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529409543	chr2:210180337-210180338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543190915	chr2:210180488-210180489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141351707	chr2:210180495-210180496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190856880	chr2:210180496-210180497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551616780	chr2:210180500-210180501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79369551	chr2:210180504-210180505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551565207	chr2:210180510-210180511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145206127	chr2:210180554-210180555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182617393	chr2:210180598-210180599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535989700	chr2:210180630-210180631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs80117587	chr2:210180636-210180637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566516540	chr2:210180643-210180644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77165666	chr2:210180656-210180657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76946959	chr2:210180668-210180669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575657460	chr2:210180676-210180677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115648449	chr2:210180703-210180704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144197300	chr2:210180820-210180821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557426236	chr2:210180823-210180824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574000987	chr2:210180871-210180872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2365312	chr2:210180973-210180974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559805225	chr2:210180995-210180996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs188929079	chr2:210181009-210181010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191121879	chr2:210181066-210181067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs930613	chr2:210181096-210181097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531141804	chr2:210181099-210181100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs36035019	chr2:210181142-210181143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs529198071	chr2:210181154-210181155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529710728	chr2:210181163-210181164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571107284	chr2:210181184-210181185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182958073	chr2:210181215-210181216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546340139	chr2:210181272-210181273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210172400-210180000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:210172400-210189800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:210172800-210182200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:210173000-210180800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:210173000-210195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:210173400-210182400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:210175800-210181600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:210176000-210187800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:210177000-210187800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:210178600-210180200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:210178800-210180000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:210179200-210182400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:210179600-210180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:210179600-210180200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:210181000-210181200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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