Variant report

Variant	esv3376596
Chromosome Location	chr2:133280982-133285980
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	CTCF	chr2:133283360-133283510	HepG2	liver:	n/a	n/a
2	GATA3	chr2:133281170-133281363	SH-SY5Y	brain:	n/a	n/a
3	MYC	chr2:133281235-133281282	MCF-7	breast:	n/a	n/a

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: 205 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567587966	chr2:133281002-133281003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377481588	chr2:133281007-133281008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538303006	chr2:133281032-133281033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577005044	chr2:133281041-133281042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77971076	chr2:133281051-133281052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367952721	chr2:133281061-133281062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571764506	chr2:133281180-133281181	Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs12613678	chr2:133281214-133281215	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs553992046	chr2:133281319-133281320	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs572383027	chr2:133281464-133281465	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs542948321	chr2:133281478-133281479	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs552148466	chr2:133281499-133281500	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs190357521	chr2:133281506-133281507	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs370256887	chr2:133281511-133281512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575972633	chr2:133281519-133281520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145139077	chr2:133281526-133281527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564839963	chr2:133281552-133281553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577050980	chr2:133281569-133281570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541222903	chr2:133281614-133281615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559612547	chr2:133281616-133281617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529998358	chr2:133281645-133281646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548202020	chr2:133281686-133281687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374212783	chr2:133281690-133281691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531610552	chr2:133281712-133281713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550207399	chr2:133281726-133281727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553079490	chr2:133281734-133281735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571404496	chr2:133281744-133281745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538776764	chr2:133281775-133281776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182547580	chr2:133281778-133281779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10183993	chr2:133281790-133281791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556964391	chr2:133281797-133281798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536925787	chr2:133281813-133281814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370333541	chr2:133281888-133281889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149108613	chr2:133281894-133281895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536630810	chr2:133281924-133281925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371158090	chr2:133281942-133281943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534925422	chr2:133281967-133281968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113208896	chr2:133281973-133281974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143148541	chr2:133281990-133281991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10178456	chr2:133282008-133282009	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557080381	chr2:133282017-133282018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368474516	chr2:133282060-133282061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4401256	chr2:133282065-133282066	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs115662480	chr2:133282072-133282073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542059933	chr2:133282099-133282100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570321170	chr2:133282100-133282101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528645994	chr2:133282181-133282182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545688904	chr2:133282187-133282188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563443901	chr2:133282197-133282198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530882845	chr2:133282198-133282199	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133268200-133282800	Weak transcription	Fetal Intestine Small	intestine
2	chr2:133274400-133283200	Weak transcription	Pancreas	Pancrea
3	chr2:133278600-133281000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:133279000-133282600	Enhancers	Fetal Brain Male	brain
5	chr2:133279200-133281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:133279200-133283000	Weak transcription	Fetal Heart	heart
7	chr2:133279800-133281200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:133280200-133281000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:133280200-133281400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:133280200-133281400	Enhancers	Fetal Brain Female	brain
11	chr2:133280400-133281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:133280400-133281200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:133280800-133281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:133281200-133281400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:133281200-133281800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:133281400-133296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:133281800-133282000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:133282000-133284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:133282800-133284800	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr2:133283000-133283800	Enhancers	Fetal Heart	heart
21	chr2:133283200-133283400	Genic enhancers	Pancreas	Pancrea
22	chr2:133283400-133283800	Weak transcription	Pancreas	Pancrea

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