Variant report

Variant	nsv875770
Chromosome Location	chr2:211682987-211782699
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	chr2:211676043..211678802-chr2:211682762..211685242,2	K562	blood:
2	chr17:57922098..57924197-chr2:211699892..211701526,2	MCF-7	breast:

Extended variants
information (count: 967 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:967 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12464940	chr2:211682987-211682988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528565008	chr2:211682991-211682992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188370977	chr2:211682994-211682995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559119080	chr2:211683040-211683041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112373689	chr2:211683095-211683096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111466473	chr2:211683105-211683106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2719969	chr2:211683144-211683145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541851078	chr2:211683150-211683151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367918534	chr2:211683157-211683158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548797414	chr2:211683165-211683166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562118308	chr2:211683183-211683184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531105170	chr2:211683194-211683195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564755105	chr2:211683205-211683206	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs73080189	chr2:211683214-211683215	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181025887	chr2:211683274-211683275	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563262091	chr2:211683279-211683280	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs72941885	chr2:211683305-211683306	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs117697132	chr2:211683321-211683322	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534962971	chr2:211683322-211683323	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550218730	chr2:211683340-211683341	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185053980	chr2:211683407-211683408	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568726160	chr2:211683425-211683426	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs116108395	chr2:211683435-211683436	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576166058	chr2:211683442-211683443	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2719970	chr2:211683457-211683458	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183758504	chr2:211683466-211683467	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187257917	chr2:211683467-211683468	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541376263	chr2:211683543-211683544	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564641649	chr2:211683572-211683573	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs554446885	chr2:211683578-211683579	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs543681907	chr2:211683599-211683600	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571118530	chr2:211683666-211683667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529037136	chr2:211683667-211683668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59094653	chr2:211683669-211683670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542739001	chr2:211683690-211683691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566262457	chr2:211683721-211683722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559444187	chr2:211683735-211683736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs201634904	chr2:211683757-211683758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76855721	chr2:211683765-211683766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191637727	chr2:211683769-211683770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147301352	chr2:211683823-211683824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530820399	chr2:211683835-211683836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67515156	chr2:211683890-211683891	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576372898	chr2:211683901-211683902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543758169	chr2:211683933-211683934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs977797	chr2:211683938-211683939	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371905299	chr2:211683956-211683957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535995504	chr2:211683979-211683980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372816517	chr2:211683990-211683991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2542924	chr2:211698206-211698207	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211677000-211683200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:211682800-211683200	Weak transcription	Pancreas	Pancrea
3	chr2:211683200-211683400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:211683200-211683600	Enhancers	H9 Cell Line	embryonic stem cell
5	chr2:211683200-211683600	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:211683200-211684000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:211683400-211683800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:211698200-211698600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:211698200-211699000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr2:211704000-211704400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:211704400-211707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:211707200-211707600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:211707200-211707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:211707200-211707800	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:211707200-211707800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:211707200-211708000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:211707200-211708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:211707400-211707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:211707400-211707800	Enhancers	Brain Germinal Matrix	brain
20	chr2:211707400-211708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:211707400-211708200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:211707800-211710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:211707800-211712400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:211708000-211711000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:211708200-211708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:211708800-211709000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:211710400-211710800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:211710600-211711000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:211710800-211714400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:211714200-211714800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:211714400-211714800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:211714400-211715000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:211714400-211715000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr2:211714600-211715000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:211722400-211723000	Enhancers	HUVEC	blood vessel
36	chr2:211722800-211725000	Weak transcription	Brain Germinal Matrix	brain
37	chr2:211723000-211723600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr2:211723000-211728000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr2:211723000-211728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:211723200-211723400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:211723200-211723400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:211723200-211725000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:211723200-211728200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr2:211723400-211724200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:211723400-211726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:211723600-211724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:211723600-211725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:211723800-211727000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:211724000-211724200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:211724000-211727400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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