Variant report

Variant	esv2760543
Chromosome Location	chr2:234938082-234955890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr2:234937612-234938498	A549	lung:	n/a	n/a
2	CBX3	chr2:234952657-234953297	HCT-116	colon:	n/a	n/a
3	CBX3	chr2:234942522-234942978	HCT-116	colon:	n/a	n/a
4	CBX3	chr2:234942615-234942944	HCT-116	colon:	n/a	n/a
5	CEBPB	chr2:234952693-234953397	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:234952239-234952356	HepG2	liver:	n/a	chr2:234952312-234952323
7	CEBPB	chr2:234947137-234947409	HepG2	liver:	n/a	chr2:234947276-234947287
8	CEBPB	chr2:234940986-234941130	A549	lung:	n/a	n/a
9	CEBPB	chr2:234937681-234938591	A549	lung:	n/a	n/a
10	CEBPB	chr2:234937837-234938358	A549	lung:	n/a	n/a
11	CEBPB	chr2:234947115-234947447	IMR90	lung:	n/a	chr2:234947276-234947287
12	CTCF	chr2:234942000-234942150	BE2_C	brain:	n/a	n/a
13	CTCF	chr2:234941800-234941950	AG04450	lung:	n/a	n/a
14	CTCF	chr2:234941660-234941810	RPTEC	kidney:	n/a	n/a
15	CTCF	chr2:234941860-234942010	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr2:234941960-234942110	HMF	breast:	n/a	n/a
17	CTCF	chr2:234941909-234942045	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr2:234941880-234942030	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr2:234941920-234942070	HCPEpiC	choroid plexus:	n/a	n/a
20	CTCF	chr2:234941880-234942030	AG04450	lung:	n/a	n/a
21	CTCF	chr2:234941860-234942010	HFF-Myc	foreskin:	n/a	n/a
22	CTCF	chr2:234941860-234942010	RPTEC	kidney:	n/a	n/a
23	CTCF	chr2:234941900-234942050	RPTEC	kidney:	n/a	n/a
24	CTCF	chr2:234941960-234942110	HCPEpiC	choroid plexus:	n/a	n/a
25	E2F4	chr2:234952848-234953141	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr2:234941197-234941323	GM12878	blood:	n/a	chr2:234941229-234941240
27	EP300	chr2:234937615-234938696	A549	lung:	n/a	n/a
28	EP300	chr2:234952614-234953406	SK-N-SH	brain:	n/a	n/a
29	EP300	chr2:234937614-234938618	A549	lung:	n/a	n/a
30	EP300	chr2:234952738-234953154	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr2:234952724-234953244	SK-N-SH	brain:	n/a	n/a
32	FOS	chr2:234952801-234953148	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:234952734-234953174	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:234940933-234941462	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:234940873-234941480	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr2:234952764-234953230	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr2:234938146-234938461	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr2:234940997-234941514	HUVEC	blood vessel:	n/a	n/a
39	FOS	chr2:234941024-234941379	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr2:234941012-234941389	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr2:234938230-234938463	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr2:234952716-234953169	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr2:234952830-234953140	HUVEC	blood vessel:	n/a	n/a
44	FOSL1	chr2:234952763-234953303	HCT-116	colon:	n/a	n/a
45	FOSL2	chr2:234937621-234938754	A549	lung:	n/a	n/a
46	FOSL2	chr2:234937739-234938522	A549	lung:	n/a	n/a
47	FOSL2	chr2:234952602-234953372	A549	lung:	n/a	n/a
48	FOSL2	chr2:234940918-234941379	A549	lung:	n/a	n/a
49	FOSL2	chr2:234952775-234953214	SK-N-SH	brain:	n/a	n/a
50	FOSL2	chr2:234952665-234953325	SK-N-SH	brain:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 694 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:694 , 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	rs10929332	chr2:234938082-234938083	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576940009	chr2:234938108-234938109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184662416	chr2:234938195-234938196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564831307	chr2:234938202-234938203	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564739390	chr2:234938223-234938224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575153596	chr2:234938227-234938228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561306050	chr2:234938240-234938241	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138339690	chr2:234938244-234938245	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35811115	chr2:234938263-234938264	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs680841	chr2:234938264-234938265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs34189226	chr2:234938267-234938268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11896036	chr2:234938315-234938316	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546659668	chr2:234938363-234938364	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560257928	chr2:234938364-234938365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs532270589	chr2:234938365-234938366	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116739465	chr2:234938372-234938373	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs11888339	chr2:234938383-234938384	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs17869088	chr2:234938389-234938390	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148704387	chr2:234938395-234938396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35050165	chr2:234938418-234938419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141413116	chr2:234938457-234938458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73124593	chr2:234938461-234938462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553771700	chr2:234938490-234938491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576878134	chr2:234938501-234938502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370625556	chr2:234938523-234938524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539553829	chr2:234938539-234938540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113151883	chr2:234938565-234938566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78294008	chr2:234938618-234938619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28903973	chr2:234938651-234938652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562948676	chr2:234938662-234938663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550376552	chr2:234938670-234938671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544474392	chr2:234938689-234938690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561062816	chr2:234938761-234938762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2362296	chr2:234938781-234938782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs34044803	chr2:234938797-234938798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150915520	chr2:234938799-234938800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560194980	chr2:234938800-234938801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1395836	chr2:234938860-234938861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545964835	chr2:234938873-234938874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189215401	chr2:234938886-234938887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1395835	chr2:234938888-234938889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs191500084	chr2:234938889-234938890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568631570	chr2:234938917-234938918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111288818	chr2:234938992-234938993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552828502	chr2:234939031-234939032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139402786	chr2:234939059-234939060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184078088	chr2:234939077-234939078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146992317	chr2:234939088-234939089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376108320	chr2:234939089-234939090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556268815	chr2:234939134-234939135	Weak transcription Enhancers	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234931800-234938200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:234934600-234939600	Weak transcription	NHEK	skin
3	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:234934800-234939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:234935600-234940000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:234935800-234939600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:234935800-234940400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234935800-234940400	Weak transcription	HUVEC	blood vessel
10	chr2:234935800-234940800	Weak transcription	HSMM	muscle
11	chr2:234936600-234939600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234937000-234939200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:234937200-234939000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:234937200-234939400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:234937400-234939600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:234937400-234939800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:234937600-234939400	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:234937600-234939600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:234937800-234938400	Flanking Active TSS	A549	lung
20	chr2:234937800-234938400	Enhancers	HMEC	breast
21	chr2:234937800-234938400	Enhancers	NH-A	brain
22	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:234938000-234938600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:234938000-234938600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:234938000-234938800	Enhancers	NHDF-Ad	bronchial
26	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:234938200-234939400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:234938400-234938800	Enhancers	A549	lung
29	chr2:234938400-234939800	Weak transcription	HMEC	breast
30	chr2:234938400-234940000	Weak transcription	NH-A	brain
31	chr2:234938600-234939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:234938600-234939800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:234938800-234939200	Weak transcription	NHDF-Ad	bronchial
34	chr2:234938800-234939800	Weak transcription	A549	lung
35	chr2:234939000-234942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:234939000-234942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:234939200-234941600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:234939200-234941800	Enhancers	NHDF-Ad	bronchial
39	chr2:234939400-234941600	Enhancers	Osteobl	bone
40	chr2:234939400-234942200	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:234939400-234942400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr2:234939400-234942400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:234939600-234940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:234939600-234941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:234939600-234941800	Enhancers	NHEK	skin
46	chr2:234939600-234942000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:234939600-234942200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:234939600-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:234939800-234940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:234939800-234940000	Enhancers	A549	lung

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