Variant report

Variant	esv3363218
Chromosome Location	chr2:114172182-114180680
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:114179478-114179679	GM12878	blood:	n/a	n/a
2	BATF	chr2:114173977-114174745	GM12878	blood:	n/a	n/a
3	BATF	chr2:114175312-114175602	GM12878	blood:	n/a	chr2:114175554-114175563
4	BATF	chr2:114174348-114174775	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:114174457-114174846	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:114174447-114174785	GM12878	blood:	n/a	n/a
7	BCL11A	chr2:114173796-114174016	GM12878	blood:	n/a	n/a
8	CTCF	chr2:114173840-114173990	GM12864	blood:	n/a	n/a
9	CTCF	chr2:114173881-114173969	A549	lung:	n/a	n/a
10	CTCF	chr2:114173520-114173670	HepG2	liver:	n/a	n/a
11	CTCF	chr2:114173896-114173917	Gliobla	brain:	n/a	n/a
12	CTCF	chr2:114173860-114174010	RPTEC	kidney:	n/a	n/a
13	CTCF	chr2:114173460-114173610	GM12873	blood:	n/a	n/a
14	CTCF	chr2:114173740-114173890	HBMEC	blood vessel:	n/a	n/a
15	EP300	chr2:114180054-114180197	GM12878	blood:	n/a	chr2:114180102-114180112
16	EP300	chr2:114173718-114174124	GM12878	blood:	n/a	n/a
17	FOSL2	chr2:114179001-114179452	HepG2	liver:	n/a	n/a
18	FOSL2	chr2:114177970-114178575	HepG2	liver:	n/a	n/a
19	FOXA1	chr2:114180609-114181489	HepG2	liver:	n/a	n/a
20	GATA2	chr2:114176763-114177019	K562	blood:	n/a	n/a
21	HEY1	chr2:114178156-114178551	HepG2	liver:	n/a	n/a
22	HEY1	chr2:114177937-114178316	K562	blood:	n/a	n/a
23	IKZF1	chr2:114173892-114173987	GM12878	blood:	n/a	n/a
24	IRF4	chr2:114173721-114174247	GM12878	blood:	n/a	n/a
25	IRF4	chr2:114174444-114174732	GM12878	blood:	n/a	n/a
26	IRF4	chr2:114177938-114178212	GM12878	blood:	n/a	n/a
27	JUND	chr2:114177928-114178052	HepG2	liver:	n/a	n/a
28	JUND	chr2:114174060-114174311	HepG2	liver:	n/a	n/a
29	JUND	chr2:114177975-114178264	HepG2	liver:	n/a	n/a
30	PAX5	chr2:114173376-114173633	GM12878	blood:	n/a	n/a
31	PAX5	chr2:114174477-114174896	GM12878	blood:	n/a	n/a
32	PAX5	chr2:114174513-114174779	GM12878	blood:	n/a	n/a
33	PAX5	chr2:114173741-114174262	GM12878	blood:	n/a	n/a
34	PAX5	chr2:114177949-114178272	GM12878	blood:	n/a	n/a
35	PAX5	chr2:114175047-114175260	GM12878	blood:	n/a	n/a
36	PAX5	chr2:114173749-114173973	GM12878	blood:	n/a	n/a
37	PAX5	chr2:114175331-114175578	GM12878	blood:	n/a	n/a
38	PBX3	chr2:114174546-114174718	GM12878	blood:	n/a	n/a
39	PBX3	chr2:114179182-114179292	GM12878	blood:	n/a	n/a
40	PBX3	chr2:114180428-114180537	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:114173558-114173600	A549	lung:	n/a	n/a
42	POLR2A	chr2:114173545-114173554	A549	lung:	n/a	n/a
43	POLR2A	chr2:114173470-114173523	Gliobla	brain:	n/a	n/a
44	POLR2A	chr2:114173793-114173988	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:114173891-114173939	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:114173756-114174017	A549	lung:	n/a	n/a
47	POLR2A	chr2:114173548-114173633	Gliobla	brain:	n/a	n/a
48	POLR2A	chr2:114173733-114174166	GM12878	blood:	n/a	n/a
49	POU2F2	chr2:114174536-114174672	GM12878	blood:	n/a	chr2:114174613-114174625
50	POU2F2	chr2:114179069-114179410	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000234997	TF binding region

Extended variants
information (count: 153 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143799655	chr2:114172249-114172250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181063788	chr2:114172261-114172262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538300123	chr2:114172276-114172277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558666002	chr2:114172325-114172326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572138137	chr2:114172342-114172343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541254919	chr2:114172350-114172351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200529567	chr2:114172391-114172392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185639236	chr2:114172546-114172547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191847889	chr2:114172627-114172628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561242203	chr2:114172652-114172653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200416313	chr2:114172707-114172708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543756760	chr2:114172923-114172924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201114397	chr2:114172932-114172933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562833576	chr2:114172956-114172957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181854461	chr2:114173114-114173115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531743928	chr2:114173121-114173122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530367176	chr2:114173164-114173165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2475463	chr2:114173172-114173173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375480811	chr2:114173188-114173189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2475462	chr2:114173241-114173242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540247608	chr2:114173263-114173264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143558342	chr2:114173313-114173314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72831901	chr2:114173317-114173318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200099764	chr2:114173368-114173369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368099352	chr2:114173369-114173370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58502016	chr2:114173375-114173376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2357520	chr2:114173390-114173391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2357519	chr2:114173394-114173395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2357518	chr2:114173420-114173421	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547941068	chr2:114173428-114173429	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs2357517	chr2:114173432-114173433	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs2357516	chr2:114173466-114173467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs567534747	chr2:114173477-114173478	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs1209182	chr2:114173484-114173485	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs397833859	chr2:114173512-114173513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56317688	chr2:114173521-114173522	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs58726955	chr2:114173627-114173628	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530287838	chr2:114173637-114173638	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs2592475	chr2:114173658-114173659	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs2592476	chr2:114173679-114173680	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80300057	chr2:114173685-114173686	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78114452	chr2:114173692-114173693	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs77082232	chr2:114173700-114173701	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs1191644	chr2:114173776-114173777	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs74182860	chr2:114173796-114173797	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs55783039	chr2:114173828-114173829	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10084175	chr2:114173880-114173881	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4849217	chr2:114173904-114173905	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2921794	chr2:114173907-114173908	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs2984407	chr2:114173996-114173997	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114165400-114173400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114167200-114173400	Weak transcription	GM12878-XiMat	blood
3	chr2:114167400-114173800	Weak transcription	Lung	lung
4	chr2:114173200-114173800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114173400-114174200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:114173400-114174200	ZNF genes & repeats	GM12878-XiMat	blood
7	chr2:114173600-114173800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:114173800-114174000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:114173800-114174000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:114173800-114174000	Flanking Bivalent TSS/Enh	Lung	lung
13	chr2:114173800-114174000	Enhancers	Pancreas	Pancrea
14	chr2:114174200-114175800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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