Variant report

Variant	esv3392961
Chromosome Location	chr2:133279582-133286780
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	chr2:133283360-133283510	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:133286595-133287097	A549	lung:	n/a	n/a
4	GATA3	chr2:133281170-133281363	SH-SY5Y	brain:	n/a	n/a
5	MAFF	chr2:133279882-133280030	HepG2	liver:	n/a	n/a
6	MAFK	chr2:133279926-133279986	HepG2	liver:	n/a	chr2:133279968-133279983
7	MAFK	chr2:133279941-133280056	HepG2	liver:	n/a	chr2:133279968-133279983
8	MAX	chr2:133280456-133280698	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr2:133281235-133281282	MCF-7	breast:	n/a	n/a
10	NFIC	chr2:133280415-133280814	SK-N-SH	brain:	n/a	chr2:133280685-133280702

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: 276 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:276 , 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	rs74608390	chr2:133279614-133279615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574109789	chr2:133279650-133279651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35066003	chr2:133279661-133279662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539489999	chr2:133279674-133279675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562984760	chr2:133279685-133279686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578179957	chr2:133279727-133279728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16833460	chr2:133279739-133279740	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192407652	chr2:133279772-133279773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371307953	chr2:133279779-133279780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141972065	chr2:133279835-133279836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545790500	chr2:133279855-133279856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564096220	chr2:133279948-133279949	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs35332901	chr2:133280013-133280014	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs374149999	chr2:133280020-133280021	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs115239642	chr2:133280028-133280029	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs549926477	chr2:133280033-133280034	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs571389933	chr2:133280040-133280041	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs539433154	chr2:133280049-133280050	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs59871121	chr2:133280096-133280097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546680443	chr2:133280228-133280229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187207693	chr2:133280231-133280232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566828082	chr2:133280302-133280303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150664657	chr2:133280313-133280314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555836616	chr2:133280351-133280352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72983622	chr2:133280412-133280413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537979730	chr2:133280478-133280479	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs569947684	chr2:133280553-133280554	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs556701422	chr2:133280556-133280557	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs557455553	chr2:133280557-133280558	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs6759012	chr2:133280619-133280620	Enhancers Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545267216	chr2:133280647-133280648	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs554045283	chr2:133280661-133280662	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs140096163	chr2:133280730-133280731	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs143674975	chr2:133280793-133280794	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs551118129	chr2:133280817-133280818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191973397	chr2:133280834-133280835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11898943	chr2:133280843-133280844	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565064826	chr2:133280846-133280847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184719387	chr2:133280852-133280853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547673184	chr2:133280884-133280885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11898952	chr2:133280890-133280891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs530060385	chr2:133280916-133280917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534519241	chr2:133280932-133280933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146808452	chr2:133280981-133280982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567587966	chr2:133281002-133281003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377481588	chr2:133281007-133281008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538303006	chr2:133281032-133281033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577005044	chr2:133281041-133281042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77971076	chr2:133281051-133281052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367952721	chr2:133281061-133281062	Enhancers Weak transcription	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:39 , 50 per page) page: 1

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	chr2:133274400-133280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
5	chr2:133278400-133280800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:133278600-133279600	Enhancers	HMEC	breast
7	chr2:133278600-133280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:133278600-133281000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:133278800-133280400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:133279000-133280800	Enhancers	Brain Germinal Matrix	brain
11	chr2:133279000-133282600	Enhancers	Fetal Brain Male	brain
12	chr2:133279200-133280200	Weak transcription	Fetal Brain Female	brain
13	chr2:133279200-133280200	Weak transcription	NHEK	skin
14	chr2:133279200-133281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:133279200-133283000	Weak transcription	Fetal Heart	heart
16	chr2:133279400-133280400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:133279600-133280000	Weak transcription	HMEC	breast
18	chr2:133279800-133281200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:133280000-133280800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:133280000-133280800	Enhancers	HMEC	breast
21	chr2:133280200-133280600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:133280200-133280600	Enhancers	NHEK	skin
23	chr2:133280200-133281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:133280200-133281400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:133280200-133281400	Enhancers	Fetal Brain Female	brain
26	chr2:133280400-133280600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:133280400-133280800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:133280400-133281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:133280400-133281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:133280800-133281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:133281200-133281400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:133281200-133281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:133281800-133282000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:133282000-133284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:133282800-133284800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr2:133283000-133283800	Enhancers	Fetal Heart	heart
38	chr2:133283200-133283400	Genic enhancers	Pancreas	Pancrea
39	chr2:133283400-133283800	Weak transcription	Pancreas	Pancrea

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