Variant report

Variant	nsv829742
Chromosome Location	chr3:140334045-140357105
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:116)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:116 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr3:140336242-140336250	K562	blood:	n/a	n/a
2	BHLHE40	chr3:140347642-140347676	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:140354064-140354201	HepG2	liver:	n/a	chr3:140354175-140354186
4	CEBPB	chr3:140348665-140348999	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr3:140348716-140349002	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:140348639-140349072	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:140354203-140354349	HepG2	liver:	n/a	n/a
8	CTCF	chr3:140354140-140354290	GM12875	blood:	n/a	n/a
9	CTCF	chr3:140354248-140354396	MCF-7	breast:	n/a	n/a
10	CTCF	chr3:140354160-140354310	GM06990	blood:	n/a	n/a
11	CTCF	chr3:140354288-140354348	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:140354200-140354350	HepG2	liver:	n/a	n/a
13	CTCF	chr3:140339469-140339560	LNCaP	prostate:	n/a	n/a
14	CTCF	chr3:140354240-140354390	GM12870	blood:	n/a	n/a
15	CTCF	chr3:140354238-140354382	GM12878	blood:	n/a	n/a
16	CTCF	chr3:140354180-140354330	GM12864	blood:	n/a	n/a
17	CTCF	chr3:140354280-140354430	GM12873	blood:	n/a	n/a
18	CTCF	chr3:140354080-140354230	MCF-7	breast:	n/a	n/a
19	CTCF	chr3:140354164-140354432	GM12878	blood:	n/a	n/a
20	CTCF	chr3:140354220-140354370	GM12873	blood:	n/a	n/a
21	CTCF	chr3:140354263-140354356	HepG2	liver:	n/a	n/a
22	E2F4	chr3:140335100-140335361	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr3:140348699-140348935	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr3:140351349-140351507	MCF10A-Er-Src	breast:	n/a	n/a
25	EGR1	chr3:140355397-140355586	K562	blood:	n/a	n/a
26	EP300	chr3:140345762-140346177	ECC-1	luminal epithelium:	n/a	n/a
27	EP300	chr3:140348491-140349095	ECC-1	luminal epithelium:	n/a	n/a
28	ESR1	chr3:140349936-140350708	T-47D	breast:	n/a	n/a
29	ESR1	chr3:140350186-140350661	T-47D	breast:	n/a	n/a
30	ESR1	chr3:140350147-140350714	T-47D	breast:	n/a	n/a
31	ESR1	chr3:140345691-140346129	ECC-1	luminal epithelium:	n/a	n/a
32	ESR1	chr3:140350210-140350684	T-47D	breast:	n/a	n/a
33	ESR1	chr3:140345737-140346115	ECC-1	luminal epithelium:	n/a	n/a
34	ESR1	chr3:140350159-140350737	T-47D	breast:	n/a	n/a
35	FOS	chr3:140348619-140349008	MCF10A-Er-Src	breast:	n/a	chr3:140348811-140348822
36	FOS	chr3:140355593-140356026	HUVEC	blood vessel:	n/a	n/a
37	FOS	chr3:140348629-140348987	MCF10A-Er-Src	breast:	n/a	chr3:140348811-140348822
38	FOS	chr3:140348644-140348992	MCF10A-Er-Src	breast:	n/a	chr3:140348811-140348822
39	FOS	chr3:140348583-140349062	HUVEC	blood vessel:	n/a	chr3:140348811-140348822
40	FOS	chr3:140348562-140349007	MCF10A-Er-Src	breast:	n/a	chr3:140348811-140348822
41	FOSL2	chr3:140348577-140349082	MCF-7	breast:	n/a	n/a
42	FOSL2	chr3:140348599-140348989	HepG2	liver:	n/a	n/a
43	FOSL2	chr3:140348584-140348990	MCF-7	breast:	n/a	n/a
44	FOXA1	chr3:140354436-140354840	HepG2	liver:	n/a	n/a
45	FOXA1	chr3:140350177-140350555	T-47D	breast:	n/a	n/a
46	FOXA1	chr3:140354577-140354852	HepG2	liver:	n/a	n/a
47	FOXA1	chr3:140350254-140350585	T-47D	breast:	n/a	n/a
48	FOXA1	chr3:140354520-140354812	HepG2	liver:	n/a	n/a
49	FOXA2	chr3:140354575-140354796	HepG2	liver:	n/a	n/a
50	GATA2	chr3:140355615-140355948	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140354121..140354796-chr3:140455695..140456494,2	MCF-7	breast:
2	chr3:140328498..140333077-chr3:140333423..140336140,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249305	TF binding region

Extended variants
information (count: 810 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372984880	chr3:140336036-140336037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72979298	chr3:140336040-140336041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs573315571	chr3:140336045-140336046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138095448	chr3:140336046-140336047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141049119	chr3:140336089-140336090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376183968	chr3:140336110-140336111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577658783	chr3:140336124-140336125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537734563	chr3:140336148-140336149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144757326	chr3:140336150-140336151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563460525	chr3:140336180-140336181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7651804	chr3:140336235-140336236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116440424	chr3:140336242-140336243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181726696	chr3:140336247-140336248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557962980	chr3:140336263-140336264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6808213	chr3:140336271-140336272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138626884	chr3:140336272-140336273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6439937	chr3:140336332-140336333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs532491223	chr3:140336333-140336334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550789808	chr3:140336336-140336337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187248985	chr3:140336371-140336372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536413558	chr3:140336375-140336376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548482149	chr3:140336418-140336419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1827168	chr3:140336461-140336462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534658219	chr3:140336490-140336491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552682395	chr3:140336499-140336500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199587263	chr3:140336536-140336537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34012099	chr3:140336542-140336543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397803506	chr3:140336547-140336548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192040750	chr3:140336591-140336592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559774169	chr3:140336607-140336608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538717653	chr3:140336615-140336616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377503943	chr3:140336633-140336634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557067088	chr3:140336670-140336671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117638198	chr3:140336675-140336676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201978722	chr3:140336761-140336762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542652090	chr3:140336762-140336763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542806470	chr3:140336788-140336789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554906207	chr3:140336816-140336817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1827169	chr3:140336835-140336836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562332516	chr3:140336853-140336854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1822209	chr3:140336867-140336868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150733781	chr3:140336908-140336909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180793362	chr3:140336942-140336943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532508376	chr3:140336966-140336967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112161085	chr3:140336991-140336992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs698658	chr3:140336997-140336998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs137906306	chr3:140337002-140337003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185460341	chr3:140337007-140337008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548368364	chr3:140337065-140337066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9877773	chr3:140337107-140337108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Cancer	21129771	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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Lung cancer	16740712	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140336000-140346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:140344400-140348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:140345600-140346200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:140346200-140346400	Enhancers	Placenta	Placenta
5	chr3:140346200-140349000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:140346200-140349600	Enhancers	HSMM	muscle
7	chr3:140346200-140352800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:140346400-140346600	Enhancers	HSMMtube	muscle
9	chr3:140346400-140348200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:140346400-140350000	Enhancers	Osteobl	bone
11	chr3:140346400-140350200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:140346400-140350200	Enhancers	NHDF-Ad	bronchial
13	chr3:140346400-140350200	Enhancers	NHEK	skin
14	chr3:140346600-140347600	Weak transcription	HSMMtube	muscle
15	chr3:140346600-140350000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:140346600-140350200	Enhancers	HMEC	breast
17	chr3:140346600-140352000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr3:140346800-140350000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:140346800-140350000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:140346800-140350200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:140346800-140350200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:140346800-140350400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:140347000-140348400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:140347400-140349400	Enhancers	NHLF	lung
25	chr3:140347400-140350200	Enhancers	NH-A	brain
26	chr3:140347600-140349800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:140347600-140350000	Enhancers	HSMMtube	muscle
28	chr3:140348200-140348600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:140348200-140349200	Enhancers	Adipose Nuclei	Adipose
30	chr3:140348200-140349400	Enhancers	HUVEC	blood vessel
31	chr3:140348200-140350400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:140348200-140352000	Enhancers	Placenta	Placenta
33	chr3:140348400-140348600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:140348400-140348800	Enhancers	Pancreas	Pancrea
35	chr3:140348400-140349000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:140348400-140349000	Enhancers	Brain Substantia Nigra	brain
37	chr3:140348400-140349400	Enhancers	Brain Hippocampus Middle	brain
38	chr3:140348600-140349000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:140348600-140349000	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:140348600-140349600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:140348600-140350200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:140349000-140349400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:140349000-140349600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:140349400-140349800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:140349600-140350000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:140349800-140350000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:140350000-140350200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:140350000-140355000	Weak transcription	Osteobl	bone
49	chr3:140350000-140355200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:140350000-140355200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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