Variant report

Variant	nsv438381
Chromosome Location	chr2:209235373-209239742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:209238240-209238613	K562	blood:	n/a	n/a
2	ARID3A	chr2:209235877-209236505	K562	blood:	n/a	n/a
3	ARID3A	chr2:209238174-209238580	HepG2	liver:	n/a	n/a
4	ATF1	chr2:209235807-209236248	K562	blood:	n/a	n/a
5	BHLHE40	chr2:209235865-209236444	K562	blood:	n/a	n/a
6	CCNT2	chr2:209235684-209236200	K562	blood:	n/a	n/a
7	CEBPB	chr2:209238250-209238569	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr2:209235768-209236174	K562	blood:	n/a	n/a
9	CEBPB	chr2:209235790-209236138	K562	blood:	n/a	n/a
10	CEBPD	chr2:209235812-209236227	K562	blood:	n/a	n/a
11	CEBPD	chr2:209235741-209236189	K562	blood:	n/a	n/a
12	CREB1	chr2:209235820-209236371	K562	blood:	n/a	n/a
13	CTCF	chr2:209238300-209238450	HA-sp	spinal cord:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
14	CTCF	chr2:209238713-209238724	GM10266	blood:	n/a	n/a
15	CTCF	chr2:209238340-209238490	Hela-S3	cervix:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
16	CTCF	chr2:209238224-209238529	Gliobla	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
17	CTCF	chr2:209238252-209238497	GM10266	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
18	CTCF	chr2:209238129-209238577	HepG2	liver:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
19	CTCF	chr2:209238720-209238870	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr2:209238300-209238450	GM12870	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
21	CTCF	chr2:209238146-209238589	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
22	CTCF	chr2:209238300-209238450	HMEC	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
23	CTCF	chr2:209238320-209238470	GM12872	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
24	CTCF	chr2:209238256-209238559	K562	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
25	CTCF	chr2:209238520-209238670	A549	lung:	n/a	n/a
26	CTCF	chr2:209238300-209238450	HFF	foreskin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
27	CTCF	chr2:209238115-209239117	A549	lung:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
28	CTCF	chr2:209238340-209238490	GM12872	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
29	CTCF	chr2:209238300-209238450	AoAF	blood vessel:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
30	CTCF	chr2:209238280-209238430	GM12868	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
31	CTCF	chr2:209237500-209237650	SAEC	small airway:	n/a	n/a
32	CTCF	chr2:209238329-209238366	MCF-7	breast:	n/a	n/a
33	CTCF	chr2:209238235-209238543	GM12878	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
34	CTCF	chr2:209238246-209238492	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
35	CTCF	chr2:209238280-209238430	GM12873	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
36	CTCF	chr2:209238258-209238473	NHEK	skin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
37	CTCF	chr2:209238260-209238410	WI-38	lung:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
38	CTCF	chr2:209238320-209238470	AG10803	skin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
39	CTCF	chr2:209238340-209238490	SK-N-SH_RA	brain:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
40	CTCF	chr2:209238340-209238490	WERI-Rb-1	eye:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
41	CTCF	chr2:209238320-209238470	GM12878	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
42	CTCF	chr2:209238260-209238410	GM12871	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
43	CTCF	chr2:209238320-209238470	HAc	cerebellar:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
44	CTCF	chr2:209238300-209238450	Caco-2	colon:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
45	CTCF	chr2:209238256-209238500	Pancreas_OC	pancreas:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
46	CTCF	chr2:209238262-209238626	HCT-116	colon:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
47	CTCF	chr2:209238242-209238488	Fibrobl	skin:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
48	CTCF	chr2:209238327-209238462	MCF-7	breast:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
49	CTCF	chr2:209238320-209238470	NB4	blood:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408
50	CTCF	chr2:209238300-209238450	HRE	kidney:	n/a	chr2:209238390-209238398 chr2:209238385-209238403 chr2:209238387-209238408

Variant related genes	Relation type
ENSG00000265454	TF binding region

Extended variants
information (count: 137 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4673402	chr2:209235373-209235374	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76962034	chr2:209235462-209235463	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185315392	chr2:209235576-209235577	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs529592755	chr2:209235688-209235689	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549453268	chr2:209235748-209235749	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs56155387	chr2:209235750-209235751	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533507785	chr2:209235759-209235760	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191954065	chr2:209235814-209235815	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs12694110	chr2:209235962-209235963	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs571426602	chr2:209236028-209236029	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs537025550	chr2:209236040-209236041	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557329381	chr2:209236068-209236069	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375075605	chr2:209236190-209236191	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367798810	chr2:209236246-209236247	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35444703	chr2:209236372-209236373	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs79716687	chr2:209236397-209236398	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184210805	chr2:209236406-209236407	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs572245710	chr2:209236414-209236415	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534845266	chr2:209236467-209236468	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs188309806	chr2:209236485-209236486	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs146404653	chr2:209236507-209236508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs193181794	chr2:209236515-209236516	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs13411624	chr2:209236527-209236528	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201101720	chr2:209236580-209236581	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs71412495	chr2:209236581-209236582	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs4675762	chr2:209236641-209236642	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4675763	chr2:209236651-209236652	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs559654897	chr2:209236662-209236663	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs139749179	chr2:209236663-209236664	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs182940955	chr2:209236757-209236758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564993454	chr2:209236771-209236772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531046030	chr2:209236818-209236819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550838404	chr2:209236831-209236832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34555911	chr2:209236847-209236848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144003096	chr2:209236853-209236854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12619470	chr2:209236864-209236865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186866219	chr2:209236880-209236881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555652257	chr2:209236892-209236893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145945876	chr2:209236897-209236898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139444415	chr2:209236909-209236910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577624396	chr2:209236915-209236916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373990711	chr2:209236949-209236950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191694879	chr2:209236951-209236952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13401360	chr2:209237012-209237013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573566430	chr2:209237034-209237035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542232129	chr2:209237040-209237041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559592139	chr2:209237083-209237084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149695179	chr2:209237136-209237137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145488005	chr2:209237146-209237147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183614154	chr2:209237189-209237190	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209233000-209240200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:209233400-209236600	Enhancers	HepG2	liver
3	chr2:209233800-209236600	Enhancers	NHDF-Ad	bronchial
4	chr2:209234000-209236000	Weak transcription	Pancreas	Pancrea
5	chr2:209234000-209236200	Enhancers	Osteobl	bone
6	chr2:209234000-209236600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:209234200-209236200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:209234800-209235400	Active TSS	Liver	Liver
9	chr2:209234800-209235800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:209235000-209235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:209235200-209236400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:209235200-209236600	Enhancers	K562	blood
13	chr2:209235400-209236200	Flanking Active TSS	Liver	Liver
14	chr2:209235800-209236000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:209235800-209236000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:209235800-209236000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:209235800-209236000	Enhancers	HSMM	muscle
18	chr2:209236000-209240200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:209238600-209238800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:209238800-209240000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:209239000-209241600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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