Variant report

Variant	nsv1003303
Chromosome Location	chr2:234940575-234955878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:234942615-234942944	HCT-116	colon:	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	CEBPB	chr2:234952239-234952356	HepG2	liver:	n/a	chr2:234952312-234952323
5	CEBPB	chr2:234952693-234953397	HCT-116	colon:	n/a	n/a
6	CEBPB	chr2:234947137-234947409	HepG2	liver:	n/a	chr2:234947276-234947287
7	CEBPB	chr2:234940986-234941130	A549	lung:	n/a	n/a
8	CEBPB	chr2:234947115-234947447	IMR90	lung:	n/a	chr2:234947276-234947287
9	CTCF	chr2:234941860-234942010	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr2:234941860-234942010	RPTEC	kidney:	n/a	n/a
11	CTCF	chr2:234941920-234942070	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr2:234941880-234942030	AG04450	lung:	n/a	n/a
13	CTCF	chr2:234941900-234942050	RPTEC	kidney:	n/a	n/a
14	CTCF	chr2:234941880-234942030	HBMEC	blood vessel:	n/a	n/a
15	CTCF	chr2:234941909-234942045	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr2:234941660-234941810	RPTEC	kidney:	n/a	n/a
17	CTCF	chr2:234941960-234942110	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr2:234942000-234942150	BE2_C	brain:	n/a	n/a
19	CTCF	chr2:234941800-234941950	AG04450	lung:	n/a	n/a
20	CTCF	chr2:234941960-234942110	HMF	breast:	n/a	n/a
21	CTCF	chr2:234941860-234942010	HPAF	blood vessel:	n/a	n/a
22	E2F4	chr2:234952848-234953141	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr2:234941197-234941323	GM12878	blood:	n/a	chr2:234941229-234941240
24	EP300	chr2:234952724-234953244	SK-N-SH	brain:	n/a	n/a
25	EP300	chr2:234952614-234953406	SK-N-SH	brain:	n/a	n/a
26	EP300	chr2:234952738-234953154	SK-N-SH_RA	brain:	n/a	n/a
27	FOS	chr2:234952764-234953230	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr2:234952734-234953174	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:234952830-234953140	HUVEC	blood vessel:	n/a	n/a
30	FOS	chr2:234940873-234941480	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr2:234940933-234941462	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr2:234952716-234953169	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr2:234952801-234953148	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr2:234941012-234941389	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr2:234941024-234941379	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr2:234940997-234941514	HUVEC	blood vessel:	n/a	n/a
37	FOSL1	chr2:234952763-234953303	HCT-116	colon:	n/a	n/a
38	FOSL2	chr2:234952602-234953372	A549	lung:	n/a	n/a
39	FOSL2	chr2:234952665-234953325	SK-N-SH	brain:	n/a	n/a
40	FOSL2	chr2:234952759-234953244	A549	lung:	n/a	n/a
41	FOSL2	chr2:234952775-234953214	SK-N-SH	brain:	n/a	n/a
42	FOSL2	chr2:234940918-234941379	A549	lung:	n/a	n/a
43	FOXA1	chr2:234952811-234953263	A549	lung:	n/a	n/a
44	FOXA2	chr2:234952756-234953361	A549	lung:	n/a	n/a
45	GATA2	chr2:234952907-234953238	HUVEC	blood vessel:	n/a	n/a
46	GATA3	chr2:234952605-234953484	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr2:234952660-234953442	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr2:234952525-234953609	A549	lung:	n/a	n/a
49	GATA3	chr2:234952824-234953355	A549	lung:	n/a	n/a
50	JUN	chr2:234941033-234941429	HUVEC	blood vessel:	n/a	n/a

No data

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

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

No data

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

Extended variants
information (count: 580 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17866606	chr2:234940575-234940576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141299245	chr2:234940581-234940582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547573307	chr2:234940597-234940598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79350027	chr2:234940622-234940623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6431653	chr2:234940630-234940631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs550076561	chr2:234940660-234940661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77085604	chr2:234940679-234940680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368819486	chr2:234940743-234940744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201438234	chr2:234940751-234940752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569519923	chr2:234940761-234940762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180827972	chr2:234940771-234940772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76114682	chr2:234940795-234940796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555263280	chr2:234940837-234940838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185915962	chr2:234940913-234940914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557923176	chr2:234940929-234940930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371652098	chr2:234940970-234940971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189854653	chr2:234940981-234940982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561013197	chr2:234940989-234940990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375915885	chr2:234941015-234941016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369982800	chr2:234941125-234941126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543738402	chr2:234941167-234941168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373550092	chr2:234941217-234941218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557595164	chr2:234941239-234941240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4616477	chr2:234941290-234941291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs182572643	chr2:234941313-234941314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138794631	chr2:234941366-234941367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528586005	chr2:234941367-234941368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545564425	chr2:234941379-234941380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149359878	chr2:234941398-234941399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533188917	chr2:234941404-234941405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549725143	chr2:234941429-234941430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28903977	chr2:234941461-234941462	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569142404	chr2:234941463-234941464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10176886	chr2:234941470-234941471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28903978	chr2:234941493-234941494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185762833	chr2:234941516-234941517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565378783	chr2:234941519-234941520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534412884	chr2:234941530-234941531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190563813	chr2:234941569-234941570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571022959	chr2:234941586-234941587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537620611	chr2:234941600-234941601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs577401875	chr2:234941693-234941694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144059652	chr2:234941720-234941721	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs183770879	chr2:234941723-234941724	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545960098	chr2:234941749-234941750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs188754656	chr2:234941786-234941787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs147302168	chr2:234941874-234941875	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs573302198	chr2:234941901-234941902	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556631963	chr2:234941931-234941932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs118162921	chr2:234941982-234941983	Enhancers Weak transcription Flanking Active TSS	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234934600-234940800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:234934800-234942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:234935800-234940800	Weak transcription	HSMM	muscle
4	chr2:234937800-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:234938000-234942000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234939000-234942000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:234939000-234942200	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr2:234939200-234941600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:234939200-234941800	Enhancers	NHDF-Ad	bronchial
10	chr2:234939400-234941600	Enhancers	Osteobl	bone
11	chr2:234939400-234942200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:234939400-234942400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:234939400-234942400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:234939600-234941000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:234939600-234941800	Enhancers	NHEK	skin
16	chr2:234939600-234942000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr2:234939600-234942200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:234939600-234942200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:234939800-234941800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:234939800-234941800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:234939800-234942200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:234939800-234942200	Enhancers	HMEC	breast
23	chr2:234940000-234940800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:234940000-234940800	Weak transcription	A549	lung
25	chr2:234940000-234941800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:234940000-234942000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr2:234940000-234942200	Enhancers	NH-A	brain
28	chr2:234940200-234940600	Enhancers	NHLF	lung
29	chr2:234940400-234941800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:234940400-234942200	Enhancers	HUVEC	blood vessel
31	chr2:234940600-234941000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:234940600-234941600	Weak transcription	NHLF	lung
33	chr2:234940800-234941000	Enhancers	A549	lung
34	chr2:234940800-234941400	Enhancers	HSMM	muscle
35	chr2:234940800-234941600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:234940800-234941600	Enhancers	Primary T cells from cord blood	blood
37	chr2:234940800-234941800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr2:234940800-234941800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:234941600-234941800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:234941600-234941800	Enhancers	NHLF	lung
41	chr2:234941600-234942000	Flanking Active TSS	Osteobl	bone
42	chr2:234941800-234952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:234942000-234942200	Enhancers	Osteobl	bone
44	chr2:234942000-234943400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:234942200-234943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:234942200-234945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:234943400-234946200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:234943800-234944000	Enhancers	Pancreas	Pancrea
49	chr2:234943800-234944800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:234943800-234944800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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