Variant report

Variant	esv3501345
Chromosome Location	chr2:188382857-188390955
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:139)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:139 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:188383802-188384574	K562	blood:	n/a	n/a
2	CBX3	chr2:188383111-188383628	K562	blood:	n/a	n/a
3	CBX3	chr2:188382480-188383688	K562	blood:	n/a	n/a
4	CEBPB	chr2:188389285-188389569	HepG2	liver:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
5	CEBPB	chr2:188389284-188389488	K562	blood:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
6	CEBPB	chr2:188389230-188389550	IMR90	lung:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
7	CHD2	chr2:188384620-188384821	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr2:188388068-188388171	GM12878	blood:	n/a	n/a
9	CTCF	chr2:188388080-188388230	RPTEC	kidney:	n/a	n/a
10	CTCF	chr2:188388008-188388136	K562	blood:	n/a	n/a
11	CTCF	chr2:188388000-188388150	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr2:188384207-188384236	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:188384080-188384230	HepG2	liver:	n/a	n/a
14	CTCF	chr2:188384020-188384170	GM12865	blood:	n/a	n/a
15	CTCF	chr2:188384025-188384097	GM20000	blood:	n/a	n/a
16	CTCF	chr2:188384240-188384390	GM12878	blood:	n/a	n/a
17	CTCF	chr2:188388080-188388163	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:188384155-188384227	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:188388100-188388250	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr2:188388111-188388191	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:188388000-188388150	HPAF	blood vessel:	n/a	n/a
22	E2F4	chr2:188390282-188390379	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr2:188384731-188384773	GM12878	blood:	n/a	n/a
24	EP300	chr2:188382396-188382880	HepG2	liver:	n/a	n/a
25	EP300	chr2:188384459-188384879	H1-hESC	embryonic stem cell:	n/a	n/a
26	FOSL2	chr2:188384056-188384469	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:188384463-188384889	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:188384351-188384910	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:188382250-188382935	HepG2	liver:	n/a	n/a
30	FOXA1	chr2:188384336-188384822	HepG2	liver:	n/a	n/a
31	FOXA1	chr2:188384338-188384977	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:188382293-188382929	HepG2	liver:	n/a	n/a
33	FOXA2	chr2:188384341-188384879	A549	lung:	n/a	n/a
34	FOXA2	chr2:188384462-188384815	A549	lung:	n/a	n/a
35	FOXA2	chr2:188384511-188384847	HepG2	liver:	n/a	n/a
36	GTF2F1	chr2:188384644-188384645	H1-hESC	embryonic stem cell:	n/a	n/a
37	HEY1	chr2:188374386-188385783	HepG2	liver:	n/a	n/a
38	HEY1	chr2:188386417-188387338	HepG2	liver:	n/a	n/a
39	HEY1	chr2:188389857-188390571	HepG2	liver:	n/a	n/a
40	HEY1	chr2:188387661-188389141	HepG2	liver:	n/a	n/a
41	IRF1	chr2:188388917-188389066	K562	blood:	n/a	n/a
42	IRF1	chr2:188385778-188385906	K562	blood:	n/a	n/a
43	JUN	chr2:188389501-188389649	K562	blood:	n/a	n/a
44	JUN	chr2:188390257-188390542	HepG2	liver:	n/a	chr2:188390380-188390393
45	JUND	chr2:188390224-188390570	HepG2	liver:	n/a	n/a
46	KAP1	chr2:188386554-188386934	K562	blood:	n/a	n/a
47	MAFK	chr2:188388822-188389005	HepG2	liver:	n/a	n/a
48	MBD4	chr2:188382451-188383177	HepG2	liver:	n/a	n/a
49	MYBL2	chr2:188382405-188382928	HepG2	liver:	n/a	n/a
50	MYBL2	chr2:188382171-188382954	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:188388573..188390742-chr2:188392127..188394969,3	K562	blood:
2	chr2:188387495..188389336-chr2:188392022..188394869,2	MCF-7	breast:
3	chr2:188389696..188391580-chr2:188402374..188405162,2	K562	blood:
4	chr2:188385597..188387511-chr2:188417620..188419728,3	K562	blood:
5	chr2:188390916..188392593-chr2:188395484..188396999,2	K562	blood:

No data

Variant related genes	Relation type
TFPI	TF binding region
ENSG00000003436	chromatin interactions
ENSG00000224063	chromatin interactions

Extended variants
information (count: 269 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs6740531	chr2:188382884-188382885	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs115948438	chr2:188382920-188382921	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546576730	chr2:188382921-188382922	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs568770672	chr2:188382982-188382983	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10211660	chr2:188383006-188383007	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181474244	chr2:188383022-188383023	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575777401	chr2:188383081-188383082	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs386653572	chr2:188383100-188383101	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186163533	chr2:188383104-188383105	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs190143227	chr2:188383112-188383113	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs182604875	chr2:188383146-188383147	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139301550	chr2:188383166-188383167	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs561745199	chr2:188383215-188383216	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532374718	chr2:188383218-188383219	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547754949	chr2:188383254-188383255	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs542092948	chr2:188383286-188383287	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs376716837	chr2:188383297-188383298	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs563369043	chr2:188383333-188383334	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144118678	chr2:188383351-188383352	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs116092159	chr2:188383370-188383371	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553265084	chr2:188383415-188383416	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186502121	chr2:188383451-188383452	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577973247	chr2:188383452-188383453	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116754113	chr2:188383467-188383468	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191004348	chr2:188383517-188383518	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535805927	chr2:188383523-188383524	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377285434	chr2:188383602-188383603	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551233567	chr2:188383620-188383621	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182576385	chr2:188383621-188383622	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370877070	chr2:188383684-188383685	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540033910	chr2:188383686-188383687	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188884780	chr2:188383689-188383690	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146488835	chr2:188383728-188383729	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534021296	chr2:188383779-188383780	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372823073	chr2:188383781-188383782	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193112671	chr2:188383845-188383846	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573957863	chr2:188383893-188383894	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544254880	chr2:188383907-188383908	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182779622	chr2:188383918-188383919	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575405499	chr2:188383927-188383928	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546021777	chr2:188383943-188383944	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564268150	chr2:188383955-188383956	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528234921	chr2:188383976-188383977	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540313622	chr2:188384008-188384009	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149157336	chr2:188384045-188384046	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187291516	chr2:188384058-188384059	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552271023	chr2:188384068-188384069	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550272062	chr2:188384069-188384070	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192232871	chr2:188384100-188384101	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533443180	chr2:188384111-188384112	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:229 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188367200-188383800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:188368400-188383800	Weak transcription	Osteobl	bone
4	chr2:188370000-188389800	Weak transcription	NHDF-Ad	bronchial
5	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
6	chr2:188374000-188383800	Weak transcription	Liver	Liver
7	chr2:188374400-188384000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:188375000-188384000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:188376000-188383800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:188376000-188384000	Weak transcription	HUVEC	blood vessel
12	chr2:188376000-188384200	Weak transcription	Left Ventricle	heart
13	chr2:188376000-188385000	Weak transcription	Gastric	stomach
14	chr2:188376400-188383400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:188376400-188383400	Weak transcription	HSMMtube	muscle
16	chr2:188376600-188383400	Weak transcription	HSMM	muscle
17	chr2:188376600-188383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:188376600-188384000	Weak transcription	Lung	lung
19	chr2:188377000-188384000	Weak transcription	Placenta	Placenta
20	chr2:188377000-188384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:188378600-188387400	Genic enhancers	HepG2	liver
22	chr2:188379400-188384000	Weak transcription	NHLF	lung
23	chr2:188380800-188383800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:188380800-188385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:188381600-188388200	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr2:188381800-188384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:188381800-188385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
29	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
30	chr2:188382000-188384200	Weak transcription	Esophagus	oesophagus
31	chr2:188382400-188383000	Weak transcription	A549	lung
32	chr2:188382400-188384000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:188382600-188384000	Weak transcription	K562	blood
34	chr2:188382600-188391600	Weak transcription	Ovary	ovary
35	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:188383000-188383200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
37	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:188383200-188383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:188383200-188383800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:188383200-188384000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:188383200-188385400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:188383200-188386000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:188383400-188383600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr2:188383400-188383600	ZNF genes & repeats	A549	lung
45	chr2:188383400-188384400	ZNF genes & repeats	Fetal Lung	lung
46	chr2:188383400-188385400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr2:188383400-188385800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:188383400-188387200	Strong transcription	HSMMtube	muscle
49	chr2:188383400-188389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:188383400-188391200	Strong transcription	HSMM	muscle

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