Variant report

Variant	nsv524826
Chromosome Location	chr2:209031677-209034715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:209032458-209032492	Lung_OC	lung:	n/a	n/a
2	E2F4	chr2:209032692-209032857	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr2:209033487-209033687	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209033805..209035560-chr2:209037521..209040634,3	K562	blood:
2	chr17:19995540..19998202-chr2:209032220..209035134,2	MCF-7	breast:
3	chr17:19991773..19994998-chr2:209032034..209035004,3	K562	blood:
4	chr2:209028147..209030842-chr2:209033531..209035644,2	MCF-7	breast:
5	chr2:209033532..209035428-chr2:209036949..209038570,2	MCF-7	breast:
6	chr2:209034002..209036462-chr2:209130730..209132491,2	K562	blood:
7	chr17:19991747..19994521-chr2:209032147..209035018,4	K562	blood:

No data

Variant related genes	Relation type
CRYGA	TF binding region
ENSG00000138413	chromatin interactions
ENSG00000115020	chromatin interactions
ENSG00000168582	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10167075	chr2:209031677-209031678	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186216160	chr2:209031705-209031706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566609576	chr2:209031736-209031737	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549991714	chr2:209031764-209031765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570010793	chr2:209031774-209031775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs12992165	chr2:209031841-209031842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs553496319	chr2:209031869-209031870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548973749	chr2:209031874-209031875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565693352	chr2:209031937-209031938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12992373	chr2:209031938-209031939	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28590668	chr2:209031969-209031970	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12992988	chr2:209031976-209031977	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537296484	chr2:209031985-209031986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557265040	chr2:209031991-209031992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190194197	chr2:209032027-209032028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12992641	chr2:209032075-209032076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543320099	chr2:209032133-209032134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370662491	chr2:209032138-209032139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62194829	chr2:209032161-209032162	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181293181	chr2:209032171-209032172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559136636	chr2:209032187-209032188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561078651	chr2:209032194-209032195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113851016	chr2:209032208-209032209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531022086	chr2:209032220-209032221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543670034	chr2:209032233-209032234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573297735	chr2:209032245-209032246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138183169	chr2:209032267-209032268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374853695	chr2:209032269-209032270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12464567	chr2:209032317-209032318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs541470305	chr2:209032346-209032347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529051259	chr2:209032355-209032356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549263939	chr2:209032365-209032366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565796107	chr2:209032370-209032371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565917985	chr2:209032377-209032378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550961787	chr2:209032454-209032455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571039989	chr2:209032484-209032485	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs536735826	chr2:209032512-209032513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556603922	chr2:209032530-209032531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567540883	chr2:209032537-209032538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9808144	chr2:209032545-209032546	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534726254	chr2:209032551-209032552	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553635470	chr2:209032575-209032576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554976881	chr2:209032588-209032589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370751271	chr2:209032603-209032604	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59179756	chr2:209032616-209032617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185024610	chr2:209032641-209032642	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142192247	chr2:209032675-209032676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62194830	chr2:209032698-209032699	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs151193600	chr2:209032776-209032777	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544740802	chr2:209032800-209032801	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Glioblastoma	21080181	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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209028200-209031800	Enhancers	Fetal Brain Male	brain
2	chr2:209028200-209033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:209028600-209033400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:209028600-209040400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:209028800-209034800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:209029800-209040000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:209030600-209040400	Weak transcription	Fetal Brain Female	brain
8	chr2:209031600-209039400	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:209031800-209039800	Weak transcription	Fetal Brain Male	brain
10	chr2:209032400-209032800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:209032800-209040600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:209033200-209037600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:209033400-209033600	Enhancers	K562	blood
14	chr2:209033400-209033800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:209033600-209036400	Weak transcription	K562	blood
16	chr2:209033600-209040000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:209034600-209035000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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