Variant report

Variant	nsv963582
Chromosome Location	chr3:142874090-142881230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr3:142877219-142877968	GM12878	blood:	n/a	n/a
2	ATF2	chr3:142876783-142877936	GM12878	blood:	n/a	n/a
3	BATF	chr3:142877358-142877838	GM12878	blood:	n/a	n/a
4	BATF	chr3:142876880-142877317	GM12878	blood:	n/a	n/a
5	BATF	chr3:142876551-142877851	GM12878	blood:	n/a	n/a
6	BCL11A	chr3:142876952-142877287	GM12878	blood:	n/a	n/a
7	BCL11A	chr3:142876924-142877894	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
8	BCL11A	chr3:142877500-142877784	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
9	BCL3	chr3:142877402-142877822	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
10	BCLAF1	chr3:142876844-142877276	GM12878	blood:	n/a	n/a
11	BCLAF1	chr3:142877259-142878000	GM12878	blood:	n/a	chr3:142877585-142877594 chr3:142877584-142877593
12	BHLHE40	chr3:142876609-142877875	GM12878	blood:	n/a	n/a
13	CEBPB	chr3:142874822-142874826	K562	blood:	n/a	n/a
14	CEBPB	chr3:142876742-142877313	ECC-1	luminal epithelium:	n/a	n/a
15	CTCF	chr3:142877777-142877793	GM13977	blood:	n/a	n/a
16	CTCF	chr3:142877720-142877870	GM12865	blood:	n/a	n/a
17	CTCF	chr3:142877740-142877890	GM06990	blood:	n/a	n/a
18	CTCF	chr3:142877680-142877830	GM12866	blood:	n/a	n/a
19	CTCF	chr3:142877620-142877770	GM12869	blood:	n/a	n/a
20	CTCF	chr3:142877740-142877890	GM12867	blood:	n/a	n/a
21	CTCF	chr3:142877680-142877830	GM12864	blood:	n/a	n/a
22	CTCF	chr3:142877720-142877870	GM12871	blood:	n/a	n/a
23	CTCF	chr3:142877780-142877930	GM12872	blood:	n/a	n/a
24	CTCF	chr3:142877720-142877870	GM12878	blood:	n/a	n/a
25	CTCF	chr3:142877609-142877918	GM12878	blood:	n/a	n/a
26	CTCF	chr3:142877753-142877823	GM19240	blood:	n/a	n/a
27	CTCF	chr3:142877767-142877776	GM13977	blood:	n/a	n/a
28	CTCF	chr3:142877720-142877870	GM12875	blood:	n/a	n/a
29	CTCF	chr3:142877660-142877810	GM12873	blood:	n/a	n/a
30	CTCF	chr3:142876037-142876042	GM12878	blood:	n/a	n/a
31	CTCF	chr3:142877680-142877830	GM12875	blood:	n/a	n/a
32	CTCF	chr3:142877640-142877790	GM12864	blood:	n/a	n/a
33	CTCF	chr3:142877740-142877809	GM10266	blood:	n/a	n/a
34	CTCF	chr3:142877760-142877910	GM06990	blood:	n/a	n/a
35	CTCF	chr3:142877660-142877810	GM12868	blood:	n/a	n/a
36	CTCF	chr3:142877717-142877818	GM19238	blood:	n/a	n/a
37	CTCF	chr3:142877700-142877850	GM12867	blood:	n/a	n/a
38	CTCF	chr3:142877700-142877850	GM12871	blood:	n/a	n/a
39	CTCF	chr3:142877732-142877809	GM12892	blood:	n/a	n/a
40	CTCF	chr3:142877760-142877910	GM12874	blood:	n/a	n/a
41	CTCF	chr3:142877680-142877830	GM12873	blood:	n/a	n/a
42	CTCF	chr3:142880910-142880947	ProgFib	skin:	n/a	n/a
43	CTCF	chr3:142877760-142877910	HRE	kidney:	n/a	n/a
44	CTCF	chr3:142877710-142877855	GM12878	blood:	n/a	n/a
45	CUX1	chr3:142877412-142877895	GM12878	blood:	n/a	n/a
46	E2F4	chr3:142874629-142874878	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr3:142877004-142877457	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F6	chr3:142877694-142877821	K562	blood:	n/a	n/a
49	EBF1	chr3:142876970-142877981	GM12878	blood:	n/a	n/a
50	EBF1	chr3:142877468-142877889	GM12878	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142867078..142870020-chr3:142871311..142874550,3	K562	blood:
2	chr3:142875650..142878540-chr3:142902217..142903747,2	K562	blood:
3	chr3:142877084..142878640-chr3:142882606..142885424,2	K562	blood:
4	chr3:142867292..142870020-chr3:142871311..142874346,3	K562	blood:
5	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
6	chr3:142842296..142843845-chr3:142877160..142879229,2	K562	blood:
7	chr3:142871516..142874257-chr3:142874409..142878539,5	K562	blood:
8	chr3:142871516..142874257-chr3:142874409..142878539,5	K562	blood:
9	chr3:142863143..142865684-chr3:142879611..142883085,3	K562	blood:
10	chr3:142878953..142880947-chr3:142881192..142883078,2	K562	blood:
11	chr3:142839800..142841734-chr3:142873166..142874850,2	K562	blood:
12	chr3:142864283..142866625-chr3:142873331..142875437,2	K562	blood:
13	chr3:142872175..142873721-chr3:142875335..142876935,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000211483	TF binding region
ENSG00000211483	chromatin interactions

Extended variants
information (count: 277 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575756794	chr3:142874225-142874226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145212566	chr3:142874231-142874232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375138493	chr3:142874238-142874239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373976830	chr3:142874335-142874336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182797395	chr3:142874433-142874434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540656542	chr3:142874465-142874466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564928345	chr3:142874476-142874477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1947236	chr3:142874482-142874483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551215469	chr3:142874492-142874493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112287822	chr3:142874524-142874525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530695680	chr3:142874535-142874536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs5853094	chr3:142874570-142874571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2352735	chr3:142874576-142874577	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3032497	chr3:142874584-142874585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199902272	chr3:142874585-142874586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200841679	chr3:142874586-142874587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567381222	chr3:142874672-142874673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528156618	chr3:142874685-142874686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546656556	chr3:142874711-142874712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74706592	chr3:142874787-142874788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6779211	chr3:142874823-142874824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs57027874	chr3:142874832-142874833	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191754918	chr3:142874833-142874834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536880337	chr3:142874864-142874865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114233137	chr3:142874916-142874917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs60343088	chr3:142874917-142874918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540326902	chr3:142874958-142874959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1597390	chr3:142875048-142875049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs576785665	chr3:142875049-142875050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183715549	chr3:142875065-142875066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557012141	chr3:142875073-142875074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188189872	chr3:142875076-142875077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10935482	chr3:142875079-142875080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542840328	chr3:142875114-142875115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571145371	chr3:142875164-142875165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530724413	chr3:142875173-142875174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528234466	chr3:142875190-142875191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546680911	chr3:142875211-142875212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374117157	chr3:142875240-142875241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571282525	chr3:142875251-142875252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532118675	chr3:142875268-142875269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550576243	chr3:142875271-142875272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569570135	chr3:142875274-142875275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115970994	chr3:142875297-142875298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375031559	chr3:142875307-142875308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370041660	chr3:142875327-142875328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534036877	chr3:142875372-142875373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558590630	chr3:142875383-142875384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142408990	chr3:142875423-142875424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556266460	chr3:142875424-142875425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142866400-142876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:142869800-142876600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:142871000-142877000	Weak transcription	Dnd41	blood
4	chr3:142871200-142876600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:142871200-142876800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:142871800-142877000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:142871800-142877000	Weak transcription	Fetal Thymus	thymus
8	chr3:142873000-142876800	Weak transcription	Primary T cells from cord blood	blood
9	chr3:142873200-142878800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:142873400-142881400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:142873400-142881800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr3:142874200-142874400	Enhancers	GM12878-XiMat	blood
13	chr3:142874200-142874800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:142874400-142875600	Weak transcription	GM12878-XiMat	blood
15	chr3:142875600-142877000	Enhancers	GM12878-XiMat	blood
16	chr3:142876400-142877800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:142876600-142877600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:142876600-142878200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:142876600-142878200	Enhancers	HSMM	muscle
20	chr3:142876800-142877400	Strong transcription	Primary T cells from cord blood	blood
21	chr3:142876800-142877400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:142876800-142877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:142876800-142877800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:142876800-142877800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:142876800-142878000	Enhancers	HMEC	breast
26	chr3:142876800-142878000	Enhancers	NHEK	skin
27	chr3:142876800-142878200	Enhancers	NHDF-Ad	bronchial
28	chr3:142877000-142877400	Flanking Active TSS	GM12878-XiMat	blood
29	chr3:142877000-142877600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr3:142877000-142877600	Enhancers	Fetal Muscle Leg	muscle
31	chr3:142877000-142877800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:142877000-142877800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:142877000-142877800	Enhancers	Psoas Muscle	Psoas
34	chr3:142877000-142877800	Enhancers	Thymus	Thymus
35	chr3:142877000-142877800	Enhancers	NH-A	brain
36	chr3:142877000-142878000	Enhancers	HSMMtube	muscle
37	chr3:142877000-142878000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:142877000-142878200	Enhancers	Fetal Thymus	thymus
39	chr3:142877000-142879800	Enhancers	Dnd41	blood
40	chr3:142877200-142877600	Enhancers	Hela-S3	cervix
41	chr3:142877200-142877800	Enhancers	Osteobl	bone
42	chr3:142877400-142877800	Enhancers	GM12878-XiMat	blood
43	chr3:142877400-142881200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:142877600-142877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:142877600-142879000	Weak transcription	Fetal Muscle Leg	muscle
46	chr3:142877800-142878600	Flanking Active TSS	GM12878-XiMat	blood
47	chr3:142877800-142879000	Weak transcription	Psoas Muscle	Psoas
48	chr3:142877800-142879000	Weak transcription	Thymus	Thymus
49	chr3:142877800-142879200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:142877800-142879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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