Variant report

Variant	esv3501344
Chromosome Location	chr2:188383607-188390855
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr2:188382480-188383688	K562	blood:	n/a	n/a
2	CBX3	chr2:188383802-188384574	K562	blood:	n/a	n/a
3	CBX3	chr2:188383111-188383628	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	chr2:188384080-188384230	HepG2	liver:	n/a	n/a
9	CTCF	chr2:188388000-188388150	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr2:188388080-188388230	RPTEC	kidney:	n/a	n/a
11	CTCF	chr2:188384207-188384236	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:188384025-188384097	GM20000	blood:	n/a	n/a
13	CTCF	chr2:188388111-188388191	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:188384155-188384227	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:188388080-188388163	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr2:188388068-188388171	GM12878	blood:	n/a	n/a
17	CTCF	chr2:188388100-188388250	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr2:188384020-188384170	GM12865	blood:	n/a	n/a
19	CTCF	chr2:188388008-188388136	K562	blood:	n/a	n/a
20	CTCF	chr2:188384240-188384390	GM12878	blood:	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	chr2:188384459-188384879	H1-hESC	embryonic stem cell:	n/a	n/a
25	FOSL2	chr2:188384056-188384469	HepG2	liver:	n/a	n/a
26	FOXA1	chr2:188384336-188384822	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:188384338-188384977	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:188384463-188384889	HepG2	liver:	n/a	n/a
29	FOXA1	chr2:188384351-188384910	HepG2	liver:	n/a	n/a
30	FOXA2	chr2:188384341-188384879	A549	lung:	n/a	n/a
31	FOXA2	chr2:188384462-188384815	A549	lung:	n/a	n/a
32	FOXA2	chr2:188384511-188384847	HepG2	liver:	n/a	n/a
33	GTF2F1	chr2:188384644-188384645	H1-hESC	embryonic stem cell:	n/a	n/a
34	HEY1	chr2:188386417-188387338	HepG2	liver:	n/a	n/a
35	HEY1	chr2:188387661-188389141	HepG2	liver:	n/a	n/a
36	HEY1	chr2:188374386-188385783	HepG2	liver:	n/a	n/a
37	HEY1	chr2:188389857-188390571	HepG2	liver:	n/a	n/a
38	IRF1	chr2:188385778-188385906	K562	blood:	n/a	n/a
39	IRF1	chr2:188388917-188389066	K562	blood:	n/a	n/a
40	JUN	chr2:188390257-188390542	HepG2	liver:	n/a	chr2:188390380-188390393
41	JUN	chr2:188389501-188389649	K562	blood:	n/a	n/a
42	JUND	chr2:188390224-188390570	HepG2	liver:	n/a	n/a
43	KAP1	chr2:188386554-188386934	K562	blood:	n/a	n/a
44	MAFK	chr2:188388822-188389005	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:188386421-188386723	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:188384821-188385368	K562	blood:	n/a	n/a
47	POLR2A	chr2:188385087-188385102	A549	lung:	n/a	n/a
48	POLR2A	chr2:188385626-188385630	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:188383989-188385375	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr2:188384187-188385418	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 240 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:240 , 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	rs551233567	chr2:188383620-188383621	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182576385	chr2:188383621-188383622	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370877070	chr2:188383684-188383685	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540033910	chr2:188383686-188383687	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188884780	chr2:188383689-188383690	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146488835	chr2:188383728-188383729	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534021296	chr2:188383779-188383780	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372823073	chr2:188383781-188383782	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193112671	chr2:188383845-188383846	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573957863	chr2:188383893-188383894	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544254880	chr2:188383907-188383908	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182779622	chr2:188383918-188383919	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575405499	chr2:188383927-188383928	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546021777	chr2:188383943-188383944	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564268150	chr2:188383955-188383956	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528234921	chr2:188383976-188383977	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540313622	chr2:188384008-188384009	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149157336	chr2:188384045-188384046	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187291516	chr2:188384058-188384059	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552271023	chr2:188384068-188384069	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550272062	chr2:188384069-188384070	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192232871	chr2:188384100-188384101	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533443180	chr2:188384111-188384112	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183953265	chr2:188384116-188384117	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369591834	chr2:188384137-188384138	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570475222	chr2:188384141-188384142	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111541793	chr2:188384156-188384157	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555854070	chr2:188384175-188384176	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189781060	chr2:188384308-188384309	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs192531952	chr2:188384328-188384329	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556235505	chr2:188384329-188384330	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575540046	chr2:188384379-188384380	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546109048	chr2:188384394-188384395	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114908164	chr2:188384456-188384457	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs72906221	chr2:188384482-188384483	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142358652	chr2:188384496-188384497	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373724479	chr2:188384528-188384529	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184390174	chr2:188384594-188384595	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs190503128	chr2:188384636-188384637	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181993625	chr2:188384740-188384741	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs562336493	chr2:188384743-188384744	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs533481743	chr2:188384863-188384864	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12473704	chr2:188384879-188384880	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs35806460	chr2:188384968-188384969	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs546896577	chr2:188384978-188384979	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566797290	chr2:188385023-188385024	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs527898597	chr2:188385024-188385025	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549273713	chr2:188385034-188385035	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371381804	chr2:188385062-188385063	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567749909	chr2:188385150-188385151	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	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:222 , 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	chr2:188376600-188383800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:188376600-188384000	Weak transcription	Lung	lung
16	chr2:188377000-188384000	Weak transcription	Placenta	Placenta
17	chr2:188377000-188384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:188378600-188387400	Genic enhancers	HepG2	liver
19	chr2:188379400-188384000	Weak transcription	NHLF	lung
20	chr2:188380800-188383800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:188380800-188385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:188381600-188388200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr2:188381800-188384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:188381800-188385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
26	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
27	chr2:188382000-188384200	Weak transcription	Esophagus	oesophagus
28	chr2:188382400-188384000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:188382600-188384000	Weak transcription	K562	blood
30	chr2:188382600-188391600	Weak transcription	Ovary	ovary
31	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:188383200-188383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:188383200-188383800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:188383200-188384000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:188383200-188385400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:188383200-188386000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:188383400-188384400	ZNF genes & repeats	Fetal Lung	lung
39	chr2:188383400-188385400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr2:188383400-188385800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:188383400-188387200	Strong transcription	HSMMtube	muscle
42	chr2:188383400-188389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:188383400-188391200	Strong transcription	HSMM	muscle
44	chr2:188383600-188384000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:188383600-188385400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:188383600-188385400	Strong transcription	A549	lung
47	chr2:188383800-188384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:188383800-188384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:188383800-188384200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr2:188383800-188384200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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