Variant report

Variant	nsv1014499
Chromosome Location	chr2:234943592-234955878
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:69)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:69 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:234952657-234953297	HCT-116	colon:	n/a	n/a
2	CEBPB	chr2:234952239-234952356	HepG2	liver:	n/a	chr2:234952312-234952323
3	CEBPB	chr2:234947137-234947409	HepG2	liver:	n/a	chr2:234947276-234947287
4	CEBPB	chr2:234947115-234947447	IMR90	lung:	n/a	chr2:234947276-234947287
5	CEBPB	chr2:234952693-234953397	HCT-116	colon:	n/a	n/a
6	E2F4	chr2:234952848-234953141	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr2:234952614-234953406	SK-N-SH	brain:	n/a	n/a
8	EP300	chr2:234952724-234953244	SK-N-SH	brain:	n/a	n/a
9	EP300	chr2:234952738-234953154	SK-N-SH_RA	brain:	n/a	n/a
10	FOS	chr2:234952734-234953174	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:234952830-234953140	HUVEC	blood vessel:	n/a	n/a
12	FOS	chr2:234952716-234953169	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr2:234952801-234953148	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr2:234952764-234953230	MCF10A-Er-Src	breast:	n/a	n/a
15	FOSL1	chr2:234952763-234953303	HCT-116	colon:	n/a	n/a
16	FOSL2	chr2:234952665-234953325	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr2:234952759-234953244	A549	lung:	n/a	n/a
18	FOSL2	chr2:234952775-234953214	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr2:234952602-234953372	A549	lung:	n/a	n/a
20	FOXA1	chr2:234952811-234953263	A549	lung:	n/a	n/a
21	FOXA2	chr2:234952756-234953361	A549	lung:	n/a	n/a
22	GATA2	chr2:234952907-234953238	HUVEC	blood vessel:	n/a	n/a
23	GATA3	chr2:234952605-234953484	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr2:234952824-234953355	A549	lung:	n/a	n/a
25	GATA3	chr2:234952660-234953442	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr2:234952525-234953609	A549	lung:	n/a	n/a
27	JUN	chr2:234952828-234953195	HUVEC	blood vessel:	n/a	n/a
28	JUND	chr2:234952719-234953291	HCT-116	colon:	n/a	n/a
29	JUND	chr2:234952683-234953345	SK-N-SH	brain:	n/a	n/a
30	JUND	chr2:234952789-234953320	SK-N-SH	brain:	n/a	n/a
31	JUND	chr2:234952679-234953328	HCT-116	colon:	n/a	n/a
32	MAFK	chr2:234953360-234953475	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr2:234944503-234944537	MCF-7	breast:	n/a	n/a
34	MYC	chr2:234952847-234953100	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr2:234952901-234953165	MCF10A-Er-Src	breast:	n/a	n/a
36	NFIC	chr2:234952785-234953281	ECC-1	luminal epithelium:	n/a	n/a
37	NFIC	chr2:234952641-234953414	SK-N-SH	brain:	n/a	n/a
38	NFIC	chr2:234952624-234953392	ECC-1	luminal epithelium:	n/a	n/a
39	NFIC	chr2:234952710-234953283	SK-N-SH	brain:	n/a	n/a
40	PBX3	chr2:234952739-234953259	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr2:234952752-234953293	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr2:234952941-234952981	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr2:234944088-234944143	Gliobla	brain:	n/a	n/a
44	POLR2A	chr2:234944274-234944626	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:234952813-234953214	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr2:234944427-234944438	A549	lung:	n/a	n/a
47	POLR2A	chr2:234944269-234944272	MCF-7	breast:	n/a	n/a
48	POLR2A	chr2:234944447-234944481	A549	lung:	n/a	n/a
49	POLR2A	chr2:234952512-234952630	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:234952764-234953191	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

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

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: 475 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10190663	chr2:234943592-234943593	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs191353269	chr2:234943640-234943641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146515740	chr2:234943692-234943693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368017868	chr2:234943719-234943720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183942590	chr2:234943736-234943737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532853951	chr2:234943745-234943746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141053038	chr2:234943773-234943774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143123096	chr2:234943795-234943796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537820055	chr2:234943798-234943799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530407070	chr2:234943821-234943822	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148332477	chr2:234943842-234943843	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568173047	chr2:234943843-234943844	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs28903675	chr2:234943868-234943869	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542656313	chr2:234943885-234943886	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552744437	chr2:234943911-234943912	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572727817	chr2:234943917-234943918	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544886404	chr2:234943919-234943920	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs634930	chr2:234943981-234943982	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs575515903	chr2:234943998-234943999	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554214866	chr2:234944027-234944028	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs624460	chr2:234944028-234944029	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs17864794	chr2:234944043-234944044	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140483836	chr2:234944050-234944051	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs150407244	chr2:234944051-234944052	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs138255624	chr2:234944093-234944094	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs368771417	chr2:234944094-234944095	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs187113805	chr2:234944100-234944101	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs372787381	chr2:234944101-234944102	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs144100775	chr2:234944118-234944119	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs532039128	chr2:234944125-234944126	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs548278944	chr2:234944140-234944141	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs574220424	chr2:234944199-234944200	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs534006144	chr2:234944278-234944279	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs553881972	chr2:234944281-234944282	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs28903979	chr2:234944295-234944296	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs570627299	chr2:234944368-234944369	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs375262122	chr2:234944395-234944396	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs28948681	chr2:234944419-234944420	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs75545694	chr2:234944462-234944463	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs575409251	chr2:234944465-234944466	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs544535921	chr2:234944499-234944500	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs192084235	chr2:234944516-234944517	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs574515555	chr2:234944523-234944524	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs17869091	chr2:234944543-234944544	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs540317544	chr2:234944575-234944576	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs368512156	chr2:234944586-234944587	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs185453900	chr2:234944609-234944610	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs532270648	chr2:234944636-234944637	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs146917522	chr2:234944639-234944640	ZNF genes & repeats Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs190030500	chr2:234944670-234944671	ZNF genes & repeats Weak transcription Bivalent Enhancer	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234941800-234952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:234942200-234943800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:234942200-234945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:234943400-234946200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:234943800-234944000	Enhancers	Pancreas	Pancrea
6	chr2:234943800-234944800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:234943800-234944800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:234944000-234944800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr2:234944000-234946200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:234944400-234944600	ZNF genes & repeats	Aorta	Aorta
11	chr2:234944400-234944600	ZNF genes & repeats	Pancreas	Pancrea
12	chr2:234946200-234947400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:234946800-234947400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:234946800-234947400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:234947000-234947400	Enhancers	HSMM	muscle
16	chr2:234947000-234947600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:234947400-234952600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:234952000-234953000	Enhancers	HMEC	breast
19	chr2:234952200-234953600	Enhancers	A549	lung
20	chr2:234952400-234952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:234952400-234953000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:234952400-234953400	Enhancers	HUVEC	blood vessel
23	chr2:234952400-234953400	Enhancers	NHEK	skin
24	chr2:234952600-234953000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:234952600-234953400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:234952600-234953400	Enhancers	NHDF-Ad	bronchial
27	chr2:234952600-234953600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:234952600-234953600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:234952800-234953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:234953000-234956000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:234953000-234956600	Weak transcription	HMEC	breast
32	chr2:234953200-234953400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:234953400-234953600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:234953400-234956000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:234953400-234956000	Weak transcription	NHDF-Ad	bronchial
36	chr2:234953600-234956000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:234953600-234956000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:234955800-234956600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:234955800-234956800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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