Variant report

Variant	nsv875753
Chromosome Location	chr2:209474223-209517915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
2	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
3	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:
4	chr2:209494353..209498041-chr2:209504325..209506664,3	K562	blood:
5	chr2:209514239..209516812-chr2:209521942..209523618,2	K562	blood:
6	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
7	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
8	chr2:209494353..209497016-chr2:209504325..209506664,2	K562	blood:
9	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
10	chr2:209492337..209494303-chr2:209506162..209509003,2	K562	blood:
11	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:
12	chr2:209479934..209482294-chr2:209490588..209493253,2	K562	blood:
13	chr2:209339603..209341733-chr2:209501873..209504107,2	MCF-7	breast:
14	chr2:209492449..209494054-chr2:209496864..209499184,3	K562	blood:
15	chr2:209500439..209502356-chr2:209506551..209509488,2	K562	blood:
16	chr2:209491119..209493117-chr2:209495604..209497671,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTH2R-1	chr2:209506966-209507101	NONHSAT076648

No data

Extended variants
information (count: 1370 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1370 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1377908	chr2:209474223-209474224	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561280317	chr2:209474234-209474235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115319456	chr2:209474244-209474245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577144225	chr2:209474253-209474254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73068572	chr2:209474337-209474338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs61700556	chr2:209474364-209474365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57794881	chr2:209474398-209474399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561963590	chr2:209474422-209474423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189231860	chr2:209474453-209474454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560781265	chr2:209474514-209474515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529854637	chr2:209474545-209474546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151101701	chr2:209474598-209474599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113812592	chr2:209474627-209474628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7587816	chr2:209474656-209474657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs532087596	chr2:209474673-209474674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539525668	chr2:209474736-209474737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551923938	chr2:209474785-209474786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569529142	chr2:209474806-209474807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538565251	chr2:209474811-209474812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553647242	chr2:209474813-209474814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377182594	chr2:209474819-209474820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192900458	chr2:209474871-209474872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183785615	chr2:209474879-209474880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11685116	chr2:209474915-209474916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139409992	chr2:209474958-209474959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568638074	chr2:209474967-209474968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187922114	chr2:209475092-209475093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191667480	chr2:209475151-209475152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577276142	chr2:209475207-209475208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141336781	chr2:209475230-209475231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556329965	chr2:209475243-209475244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575175818	chr2:209475258-209475259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145179488	chr2:209475267-209475268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542045661	chr2:209475317-209475318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376173589	chr2:209475318-209475319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372745533	chr2:209475411-209475412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139475574	chr2:209475420-209475421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550065859	chr2:209475461-209475462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560869898	chr2:209475514-209475515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116304468	chr2:209475527-209475528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564891438	chr2:209475531-209475532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184258370	chr2:209475537-209475538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532181451	chr2:209475543-209475544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188103498	chr2:209475571-209475572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73068577	chr2:209475574-209475575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs550656178	chr2:209475586-209475587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115493056	chr2:209475630-209475631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562379618	chr2:209475633-209475634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140703987	chr2:209475641-209475642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548874683	chr2:209475665-209475666	Weak transcription	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209473400-209474400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:209473800-209474400	Enhancers	Fetal Heart	heart
3	chr2:209473800-209474400	Enhancers	K562	blood
4	chr2:209474000-209474400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:209474400-209479600	Weak transcription	K562	blood
6	chr2:209474400-209480200	Weak transcription	Fetal Heart	heart
7	chr2:209479600-209479800	Enhancers	K562	blood
8	chr2:209479800-209480200	Weak transcription	K562	blood
9	chr2:209480200-209480400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:209480200-209480800	Enhancers	Fetal Heart	heart
11	chr2:209480200-209481200	Active TSS	K562	blood
12	chr2:209480400-209481000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:209480800-209482400	Weak transcription	Fetal Heart	heart
14	chr2:209481200-209482400	Weak transcription	K562	blood
15	chr2:209482400-209485400	Enhancers	Fetal Heart	heart
16	chr2:209482400-209485600	Enhancers	K562	blood
17	chr2:209484200-209485000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:209484400-209485000	Enhancers	Pancreas	Pancrea
19	chr2:209491400-209493000	Enhancers	K562	blood
20	chr2:209491800-209493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:209492400-209494200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:209492600-209493800	Enhancers	Fetal Heart	heart
23	chr2:209493000-209493800	Weak transcription	K562	blood
24	chr2:209493800-209494600	Enhancers	K562	blood
25	chr2:209494200-209494600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:209494600-209495000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:209494600-209502400	Weak transcription	K562	blood
28	chr2:209494800-209495000	Enhancers	Fetal Kidney	kidney
29	chr2:209495000-209512800	Weak transcription	Fetal Kidney	kidney
30	chr2:209502400-209503400	Enhancers	K562	blood
31	chr2:209502800-209503600	Enhancers	Fetal Intestine Large	intestine
32	chr2:209503000-209503400	Enhancers	Fetal Intestine Small	intestine
33	chr2:209503400-209510000	Weak transcription	K562	blood
34	chr2:209508400-209509200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:209508800-209512600	Weak transcription	Fetal Heart	heart
36	chr2:209509000-209509400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:209509200-209510600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:209510600-209511800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:209512000-209512200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:209512600-209515000	Enhancers	Fetal Heart	heart
41	chr2:209512800-209513400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:209512800-209513600	Enhancers	Fetal Kidney	kidney

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