Variant report

Variant	nsv1007808
Chromosome Location	chr2:133278478-133302575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:133280625-133280665	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr2:133278760-133278910	HAc	cerebellar:	n/a	n/a
3	CTCF	chr2:133289519-133289552	GM13976	blood:	n/a	n/a
4	CTCF	chr2:133289569-133289639	Spleen_OC	spleen:	n/a	n/a
5	CTCF	chr2:133283360-133283510	HepG2	liver:	n/a	n/a
6	CTCF	chr2:133296860-133297010	GM12869	blood:	n/a	n/a
7	FOS	chr2:133279049-133279123	MCF10A-Er-Src	breast:	n/a	chr2:133279075-133279087 chr2:133279077-133279085
8	FOSL2	chr2:133278863-133279268	SK-N-SH	brain:	n/a	chr2:133279075-133279087 chr2:133279077-133279085
9	FOXA2	chr2:133286595-133287097	A549	lung:	n/a	n/a
10	GATA2	chr2:133300815-133301173	HUVEC	blood vessel:	n/a	n/a
11	GATA3	chr2:133281170-133281363	SH-SY5Y	brain:	n/a	n/a
12	KAP1	chr2:133300340-133301137	HEK293	kidney:	n/a	n/a
13	KAP1	chr2:133302171-133302477	HEK293	kidney:	n/a	n/a
14	KAP1	chr2:133300617-133301198	U2OS	brain:	n/a	n/a
15	MAFF	chr2:133279882-133280030	HepG2	liver:	n/a	n/a
16	MAFK	chr2:133279926-133279986	HepG2	liver:	n/a	chr2:133279968-133279983
17	MAFK	chr2:133279941-133280056	HepG2	liver:	n/a	chr2:133279968-133279983
18	MAX	chr2:133280456-133280698	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr2:133302155-133302252	MCF-7	breast:	n/a	n/a
20	MYC	chr2:133281235-133281282	MCF-7	breast:	n/a	n/a
21	NFIC	chr2:133278899-133279422	SK-N-SH	brain:	n/a	chr2:133279204-133279221
22	NFIC	chr2:133280415-133280814	SK-N-SH	brain:	n/a	chr2:133280685-133280702
23	POLR2A	chr2:133302153-133302251	MCF-7	breast:	n/a	n/a
24	SETDB1	chr2:133302013-133302552	U2OS	brain:	n/a	n/a
25	SETDB1	chr2:133300325-133301361	U2OS	brain:	n/a	n/a
26	SPI1	chr2:133294836-133295168	HL-60	blood:	n/a	n/a
27	SPI1	chr2:133294935-133295069	K562	blood:	n/a	n/a
28	TAL1	chr2:133300933-133301139	K562	blood:	n/a	n/a
29	USF1	chr2:133278689-133278898	SK-N-SH_RA	brain:	n/a	chr2:133278787-133278798
30	USF1	chr2:133278625-133278900	H1-hESC	embryonic stem cell:	n/a	chr2:133278787-133278798
31	USF1	chr2:133278692-133278945	ECC-1	luminal epithelium:	n/a	chr2:133278787-133278798
32	USF1	chr2:133278689-133278829	HepG2	liver:	n/a	chr2:133278787-133278798
33	USF1	chr2:133278713-133278891	K562	blood:	n/a	chr2:133278787-133278798
34	USF1	chr2:133278710-133278816	HepG2	liver:	n/a	chr2:133278787-133278798

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133274709..133277168-chr2:133277775..133280190,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C2orf27A-10	chr2:133281190-133281509	NONHSAT074537

Variant related genes	Relation type
ENSG00000221142	TF binding region
RN7SKP103	TF binding region

Extended variants
information (count: 1000 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1000 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7571728	chr2:133278478-133278479	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532942375	chr2:133278517-133278518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10191510	chr2:133278540-133278541	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs116403673	chr2:133278631-133278632	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs533686509	chr2:133278634-133278635	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs115274802	chr2:133278649-133278650	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs567156925	chr2:133278650-133278651	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs537714324	chr2:133278657-133278658	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs556426888	chr2:133278663-133278664	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs575510420	chr2:133278681-133278682	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs4954338	chr2:133278691-133278692	Enhancers Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs142742108	chr2:133278693-133278694	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs541121072	chr2:133278695-133278696	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs116259797	chr2:133278716-133278717	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs200991430	chr2:133278737-133278738	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs540767218	chr2:133278781-133278782	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs562232079	chr2:133278794-133278795	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs559863486	chr2:133278884-133278885	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs574200484	chr2:133278885-133278886	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs187980209	chr2:133278886-133278887	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs563204125	chr2:133278994-133278995	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs533493271	chr2:133279026-133279027	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs550955694	chr2:133279089-133279090	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs559743898	chr2:133279107-133279108	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs61085113	chr2:133279158-133279159	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs527369715	chr2:133279161-133279162	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs374859542	chr2:133279220-133279221	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs201972277	chr2:133279271-133279272	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs200076003	chr2:133279272-133279273	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs397801318	chr2:133279275-133279276	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs200905115	chr2:133279276-133279277	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs13402937	chr2:133279285-133279286	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs146938165	chr2:133279304-133279305	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs137928929	chr2:133279318-133279319	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs538054942	chr2:133279341-133279342	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs143382644	chr2:133279352-133279353	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs559912303	chr2:133279382-133279383	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs542033703	chr2:133279399-133279400	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs563361190	chr2:133279413-133279414	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs144844406	chr2:133279420-133279421	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs538586904	chr2:133279427-133279428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558170442	chr2:133279480-133279481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376875182	chr2:133279500-133279501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534259707	chr2:133279540-133279541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74608390	chr2:133279614-133279615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574109789	chr2:133279650-133279651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35066003	chr2:133279661-133279662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs539489999	chr2:133279674-133279675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562984760	chr2:133279685-133279686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578179957	chr2:133279727-133279728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133262000-133280400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133268200-133282800	Weak transcription	Fetal Intestine Small	intestine
3	chr2:133272800-133278600	Weak transcription	Fetal Heart	heart
4	chr2:133274400-133280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
6	chr2:133275400-133278600	Weak transcription	NHEK	skin
7	chr2:133278000-133279000	Weak transcription	Brain Germinal Matrix	brain
8	chr2:133278400-133280800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:133278600-133278800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:133278600-133279200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:133278600-133279200	Enhancers	Fetal Heart	heart
12	chr2:133278600-133279200	Enhancers	NHEK	skin
13	chr2:133278600-133279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:133278600-133279600	Enhancers	HMEC	breast
15	chr2:133278600-133280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:133278600-133281000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:133278800-133279400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:133278800-133280400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:133279000-133279200	Enhancers	Fetal Brain Female	brain
20	chr2:133279000-133280800	Enhancers	Brain Germinal Matrix	brain
21	chr2:133279000-133282600	Enhancers	Fetal Brain Male	brain
22	chr2:133279200-133280200	Weak transcription	Fetal Brain Female	brain
23	chr2:133279200-133280200	Weak transcription	NHEK	skin
24	chr2:133279200-133281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:133279200-133283000	Weak transcription	Fetal Heart	heart
26	chr2:133279400-133280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:133279600-133280000	Weak transcription	HMEC	breast
28	chr2:133279800-133281200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr2:133280000-133280800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:133280000-133280800	Enhancers	HMEC	breast
31	chr2:133280200-133280600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:133280200-133280600	Enhancers	NHEK	skin
33	chr2:133280200-133281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:133280200-133281400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:133280200-133281400	Enhancers	Fetal Brain Female	brain
36	chr2:133280400-133280600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:133280400-133280800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:133280400-133281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:133280400-133281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:133280800-133281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:133281200-133281400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:133281200-133281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:133281800-133282000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr2:133282000-133284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:133282800-133284800	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr2:133283000-133283800	Enhancers	Fetal Heart	heart
48	chr2:133283200-133283400	Genic enhancers	Pancreas	Pancrea
49	chr2:133283400-133283800	Weak transcription	Pancreas	Pancrea
50	chr2:133295600-133297400	Enhancers	Fetal Heart	heart

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