Variant report

Variant	nsv437316
Chromosome Location	chr2:234939481-234956344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:136)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:136 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:234956095-234956346	GM12878	blood:	n/a	n/a
2	CBX3	chr2:234942522-234942978	HCT-116	colon:	n/a	n/a
3	CBX3	chr2:234952657-234953297	HCT-116	colon:	n/a	n/a
4	CBX3	chr2:234942615-234942944	HCT-116	colon:	n/a	n/a
5	CEBPB	chr2:234940986-234941130	A549	lung:	n/a	n/a
6	CEBPB	chr2:234952693-234953397	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:234947137-234947409	HepG2	liver:	n/a	chr2:234947276-234947287
8	CEBPB	chr2:234947115-234947447	IMR90	lung:	n/a	chr2:234947276-234947287
9	CEBPB	chr2:234952239-234952356	HepG2	liver:	n/a	chr2:234952312-234952323
10	CTCF	chr2:234941880-234942030	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr2:234941800-234941950	AG04450	lung:	n/a	n/a
12	CTCF	chr2:234955940-234956090	GM12865	blood:	n/a	n/a
13	CTCF	chr2:234955900-234956050	HMF	breast:	n/a	n/a
14	CTCF	chr2:234956060-234956210	GM12868	blood:	n/a	n/a
15	CTCF	chr2:234955977-234956093	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:234942000-234942150	BE2_C	brain:	n/a	n/a
17	CTCF	chr2:234941860-234942010	RPTEC	kidney:	n/a	n/a
18	CTCF	chr2:234941860-234942010	HFF-Myc	foreskin:	n/a	n/a
19	CTCF	chr2:234956057-234956065	ProgFib	skin:	n/a	n/a
20	CTCF	chr2:234955960-234956110	HEK293	kidney:	n/a	n/a
21	CTCF	chr2:234955982-234956054	ProgFib	skin:	n/a	n/a
22	CTCF	chr2:234941860-234942010	HPAF	blood vessel:	n/a	n/a
23	CTCF	chr2:234941880-234942030	AG04450	lung:	n/a	n/a
24	CTCF	chr2:234941660-234941810	RPTEC	kidney:	n/a	n/a
25	CTCF	chr2:234955920-234956070	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr2:234955940-234956090	HepG2	liver:	n/a	n/a
27	CTCF	chr2:234941909-234942045	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr2:234941920-234942070	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr2:234956080-234956230	GM12873	blood:	n/a	n/a
30	CTCF	chr2:234955958-234956132	Fibrobl	skin:	n/a	n/a
31	CTCF	chr2:234956012-234956080	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:234956000-234956150	HCT-116	colon:	n/a	n/a
33	CTCF	chr2:234956021-234956083	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:234941960-234942110	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr2:234955940-234956090	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr2:234955940-234956090	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:234941900-234942050	RPTEC	kidney:	n/a	n/a
38	CTCF	chr2:234956030-234956082	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:234956033-234956075	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:234955996-234956099	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:234956015-234956104	K562	blood:	n/a	n/a
42	CTCF	chr2:234941960-234942110	HMF	breast:	n/a	n/a
43	E2F4	chr2:234952848-234953141	MCF10A-Er-Src	breast:	n/a	n/a
44	EBF1	chr2:234941197-234941323	GM12878	blood:	n/a	chr2:234941229-234941240
45	EP300	chr2:234952724-234953244	SK-N-SH	brain:	n/a	n/a
46	EP300	chr2:234952738-234953154	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr2:234952614-234953406	SK-N-SH	brain:	n/a	n/a
48	FOS	chr2:234941024-234941379	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr2:234940997-234941514	HUVEC	blood vessel:	n/a	n/a
50	FOS	chr2:234952764-234953230	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234835606..234837772-chr2:234955390..234957030,2	K562	blood:
2	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
3	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
4	2:234772667-234780240..2:234954947-234965240	Hela-S3	cervix:
5	chr2:234939882..234942126-chr2:234943177..234946167,2	K562	blood:
6	2:234635414-234639782..2:234945222-234954947	Hela-S3	cervix:

No data

Variant related genes	Relation type
SPP2	TF binding region
ENSG00000228949	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000224287	chromatin interactions
ENSG00000243135	chromatin interactions

Extended variants
information (count: 653 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:653 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11680332	chr2:234939481-234939482	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12615187	chr2:234939485-234939486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547732068	chr2:234939513-234939514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61401779	chr2:234939525-234939526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35504693	chr2:234939563-234939564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77598130	chr2:234939576-234939577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7594792	chr2:234939580-234939581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs28948679	chr2:234939589-234939590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371555694	chr2:234939591-234939592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540842644	chr2:234939641-234939642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554428863	chr2:234939664-234939665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568288952	chr2:234939674-234939675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534055499	chr2:234939686-234939687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145091030	chr2:234939753-234939754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577222115	chr2:234939756-234939757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539410353	chr2:234939777-234939778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28948680	chr2:234939842-234939843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12624062	chr2:234939851-234939852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs576013557	chr2:234939881-234939882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144895718	chr2:234939953-234939954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562138814	chr2:234939965-234939966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572335113	chr2:234939966-234939967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28903976	chr2:234939980-234939981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181651386	chr2:234939983-234939984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564404753	chr2:234940010-234940011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149045994	chr2:234940014-234940015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549720473	chr2:234940104-234940105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74521577	chr2:234940123-234940124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529361281	chr2:234940134-234940135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17864792	chr2:234940139-234940140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17869090	chr2:234940161-234940162	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533938782	chr2:234940178-234940179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547632373	chr2:234940187-234940188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570710214	chr2:234940203-234940204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17864793	chr2:234940204-234940205	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs151228629	chr2:234940205-234940206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140378594	chr2:234940248-234940249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375717746	chr2:234940251-234940252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555474788	chr2:234940259-234940260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187110816	chr2:234940277-234940278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs17866605	chr2:234940285-234940286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561655939	chr2:234940288-234940289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145467900	chr2:234940327-234940328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13035346	chr2:234940333-234940334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564346112	chr2:234940353-234940354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6758440	chr2:234940402-234940403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76285659	chr2:234940433-234940434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137979878	chr2:234940436-234940437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376569508	chr2:234940530-234940531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529320273	chr2:234940550-234940551	Enhancers Weak transcription	n/a	n/a	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
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
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Wilms tumour	21544195	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234934600-234939600	Weak transcription	NHEK	skin
2	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:234934800-234939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234935600-234940000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:234935800-234939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:234935800-234940400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:234935800-234940400	Weak transcription	HUVEC	blood vessel
9	chr2:234935800-234940800	Weak transcription	HSMM	muscle
10	chr2:234936600-234939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234937400-234939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:234937400-234939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:234937600-234939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:234938400-234939800	Weak transcription	HMEC	breast
17	chr2:234938400-234940000	Weak transcription	NH-A	brain
18	chr2:234938600-234939800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:234938800-234939800	Weak transcription	A549	lung
20	chr2:234939000-234942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:234939000-234942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:234939200-234941600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:234939200-234941800	Enhancers	NHDF-Ad	bronchial
24	chr2:234939400-234941600	Enhancers	Osteobl	bone
25	chr2:234939400-234942200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr2:234939400-234942400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:234939400-234942400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:234939600-234940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:234939600-234941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:234939600-234941800	Enhancers	NHEK	skin
31	chr2:234939600-234942000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:234939600-234942200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:234939600-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:234939800-234940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:234939800-234940000	Enhancers	A549	lung
36	chr2:234939800-234941800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:234939800-234941800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:234939800-234942200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr2:234939800-234942200	Enhancers	HMEC	breast
40	chr2:234940000-234940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:234940000-234940800	Weak transcription	A549	lung
42	chr2:234940000-234941800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:234940000-234942000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:234940000-234942200	Enhancers	NH-A	brain
45	chr2:234940200-234940600	Enhancers	NHLF	lung
46	chr2:234940400-234941800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:234940400-234942200	Enhancers	HUVEC	blood vessel
48	chr2:234940600-234941000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:234940600-234941600	Weak transcription	NHLF	lung
50	chr2:234940800-234941000	Enhancers	A549	lung

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