Variant report

Variant	esv13703
Chromosome Location	chr2:188384126-188389392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 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	CEBPB	chr2:188389230-188389550	IMR90	lung:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
3	CEBPB	chr2:188389285-188389569	HepG2	liver:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
4	CEBPB	chr2:188389284-188389488	K562	blood:	n/a	chr2:188389405-188389416 chr2:188389404-188389417
5	CHD2	chr2:188384620-188384821	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:188388100-188388250	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr2:188384080-188384230	HepG2	liver:	n/a	n/a
8	CTCF	chr2:188388000-188388150	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr2:188384155-188384227	MCF-7	breast:	n/a	n/a
10	CTCF	chr2:188388080-188388163	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:188388000-188388150	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr2:188388068-188388171	GM12878	blood:	n/a	n/a
13	CTCF	chr2:188388111-188388191	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:188388080-188388230	RPTEC	kidney:	n/a	n/a
15	CTCF	chr2:188384240-188384390	GM12878	blood:	n/a	n/a
16	CTCF	chr2:188384020-188384170	GM12865	blood:	n/a	n/a
17	CTCF	chr2:188384207-188384236	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:188388008-188388136	K562	blood:	n/a	n/a
19	EBF1	chr2:188384731-188384773	GM12878	blood:	n/a	n/a
20	EP300	chr2:188384459-188384879	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOSL2	chr2:188384056-188384469	HepG2	liver:	n/a	n/a
22	FOXA1	chr2:188384338-188384977	HepG2	liver:	n/a	n/a
23	FOXA1	chr2:188384463-188384889	HepG2	liver:	n/a	n/a
24	FOXA1	chr2:188384351-188384910	HepG2	liver:	n/a	n/a
25	FOXA1	chr2:188384336-188384822	HepG2	liver:	n/a	n/a
26	FOXA2	chr2:188384341-188384879	A549	lung:	n/a	n/a
27	FOXA2	chr2:188384511-188384847	HepG2	liver:	n/a	n/a
28	FOXA2	chr2:188384462-188384815	A549	lung:	n/a	n/a
29	GTF2F1	chr2:188384644-188384645	H1-hESC	embryonic stem cell:	n/a	n/a
30	HEY1	chr2:188387661-188389141	HepG2	liver:	n/a	n/a
31	HEY1	chr2:188386417-188387338	HepG2	liver:	n/a	n/a
32	HEY1	chr2:188374386-188385783	HepG2	liver:	n/a	n/a
33	IRF1	chr2:188388917-188389066	K562	blood:	n/a	n/a
34	IRF1	chr2:188385778-188385906	K562	blood:	n/a	n/a
35	KAP1	chr2:188386554-188386934	K562	blood:	n/a	n/a
36	MAFK	chr2:188388822-188389005	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:188384195-188384406	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:188388646-188388707	A549	lung:	n/a	n/a
39	POLR2A	chr2:188384821-188385368	K562	blood:	n/a	n/a
40	POLR2A	chr2:188386474-188386645	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:188385488-188386403	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:188384353-188384675	K562	blood:	n/a	n/a
43	POLR2A	chr2:188384594-188384597	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:188385057-188385305	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:188385890-188385952	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr2:188385150-188385232	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:188386544-188386598	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr2:188384187-188385418	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:188383931-188384181	HepG2	liver:	n/a	n/a
50	POLR2A	chr2:188384388-188384393	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:188385597..188387511-chr2:188417620..188419728,3	K562	blood:
2	chr2:188388573..188390742-chr2:188392127..188394969,3	K562	blood:
3	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: 180 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:180 , 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	rs369591834	chr2:188384137-188384138	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570475222	chr2:188384141-188384142	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111541793	chr2:188384156-188384157	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555854070	chr2:188384175-188384176	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	rs537946757	chr2:188385157-188385158	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550187061	chr2:188385163-188385164	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs369119230	chr2:188385167-188385168	Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571651502	chr2:188385218-188385219	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs539770466	chr2:188385237-188385238	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372721447	chr2:188385287-188385288	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs186531866	chr2:188385288-188385289	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs532809909	chr2:188385309-188385310	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533986842	chr2:188385336-188385337	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189020534	chr2:188385337-188385338	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573720911	chr2:188385338-188385339	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs543955844	chr2:188385349-188385350	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs562530988	chr2:188385437-188385438	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs376994698	chr2:188385440-188385441	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs151243705	chr2:188385441-188385442	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140459670	chr2:188385473-188385474	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs10804013	chr2:188385481-188385482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10804014	chr2:188385501-188385502	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537132520	chr2:188385515-188385516	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs561316307	chr2:188385574-188385575	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147112918	chr2:188385645-188385646	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs35921680	chr2:188385688-188385689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs138583908	chr2:188385719-188385720	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs571743060	chr2:188385819-188385820	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 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:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188360600-188391600	Weak transcription	Psoas Muscle	Psoas
2	chr2:188370000-188389800	Weak transcription	NHDF-Ad	bronchial
3	chr2:188370400-188390000	Weak transcription	Hela-S3	cervix
4	chr2:188375200-188400000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:188376000-188384200	Weak transcription	Left Ventricle	heart
6	chr2:188376000-188385000	Weak transcription	Gastric	stomach
7	chr2:188377000-188384800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:188378600-188387400	Genic enhancers	HepG2	liver
9	chr2:188380800-188385400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:188381600-188388200	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr2:188381800-188385000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:188381800-188406000	Weak transcription	Small Intestine	intestine
13	chr2:188381800-188406600	Weak transcription	Aorta	Aorta
14	chr2:188382000-188384200	Weak transcription	Esophagus	oesophagus
15	chr2:188382600-188391600	Weak transcription	Ovary	ovary
16	chr2:188382800-188390800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:188383000-188392000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:188383200-188385400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:188383200-188386000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:188383400-188384400	ZNF genes & repeats	Fetal Lung	lung
21	chr2:188383400-188385400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr2:188383400-188385800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:188383400-188387200	Strong transcription	HSMMtube	muscle
24	chr2:188383400-188389400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:188383400-188391200	Strong transcription	HSMM	muscle
26	chr2:188383600-188385400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:188383600-188385400	Strong transcription	A549	lung
28	chr2:188383800-188384200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr2:188383800-188384200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:188383800-188384800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:188383800-188385200	Strong transcription	Placenta Amnion	Placenta Amnion
32	chr2:188383800-188385400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:188383800-188385400	ZNF genes & repeats	Fetal Stomach	stomach
34	chr2:188383800-188387200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:188383800-188387200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:188383800-188387200	Strong transcription	Liver	Liver
37	chr2:188383800-188387200	Strong transcription	Osteobl	bone
38	chr2:188384000-188384200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:188384000-188384200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr2:188384000-188384200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
41	chr2:188384000-188384400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:188384000-188384400	Strong transcription	K562	blood
43	chr2:188384000-188384800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:188384000-188385000	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr2:188384000-188385200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:188384000-188385200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:188384000-188385200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr2:188384000-188385200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr2:188384000-188385200	ZNF genes & repeats	Lung	lung
50	chr2:188384000-188385200	ZNF genes & repeats	Pancreas	Pancrea

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