Variant report

Variant	esv3443641
Chromosome Location	chr2:234529340-234548101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:307)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234547630-234547704	MCF-7	breast:	n/a	n/a
2	CTCF	chr2:234545228-234545302	NHEK	skin:	n/a	n/a
3	CTCF	chr2:234547640-234547790	GM12873	blood:	n/a	n/a
4	CTCF	chr2:234547634-234547721	GM12892	blood:	n/a	n/a
5	CTCF	chr2:234547667-234547723	GM13977	blood:	n/a	n/a
6	CTCF	chr2:234547580-234547730	GM12864	blood:	n/a	n/a
7	CTCF	chr2:234547642-234547861	GM12878	blood:	n/a	n/a
8	CTCF	chr2:234547480-234547630	A549	lung:	n/a	n/a
9	CTCF	chr2:234547617-234547722	NHEK	skin:	n/a	n/a
10	CTCF	chr2:234547643-234547715	GM19240	blood:	n/a	n/a
11	CTCF	chr2:234545031-234545104	Pancreas_OC	pancreas:	n/a	n/a
12	EBF1	chr2:234533840-234534107	GM12878	blood:	n/a	n/a
13	FOXA1	chr2:234538733-234539024	HepG2	liver:	n/a	n/a
14	MAFF	chr2:234538788-234538994	HepG2	liver:	n/a	chr2:234538905-234538923
15	MAFK	chr2:234538766-234538983	HepG2	liver:	n/a	n/a
16	MAFK	chr2:234538811-234539008	HepG2	liver:	n/a	n/a
17	MYC	chr2:234534397-234534559	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:234545149-234545156	MCF-7	breast:	n/a	n/a
19	POLR2A	chr2:234545201-234545311	MCF-7	breast:	n/a	n/a
20	POLR2A	chr2:234535863-234536903	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr2:234545161-234545169	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:234545191-234545197	MCF-7	breast:	n/a	n/a
23	POLR2A	chr2:234545163-234545398	A549	lung:	n/a	n/a
24	RAD21	chr2:234547513-234547752	GM12878	blood:	n/a	n/a
25	SPI1	chr2:234529822-234530042	GM12878	blood:	n/a	chr2:234529944-234529951 chr2:234529943-234529952 chr2:234529940-234529953 chr2:234529941-234529954
26	SPI1	chr2:234529848-234530060	K562	blood:	n/a	chr2:234529944-234529951 chr2:234529943-234529952 chr2:234529940-234529953 chr2:234529941-234529954
27	SPI1	chr2:234529838-234530121	GM12891	blood:	n/a	chr2:234529944-234529951 chr2:234529943-234529952 chr2:234529940-234529953 chr2:234529941-234529954
28	SPI1	chr2:234529856-234529990	GM12878	blood:	n/a	chr2:234529944-234529951 chr2:234529943-234529952 chr2:234529940-234529953 chr2:234529941-234529954
29	SPI1	chr2:234529855-234530043	K562	blood:	n/a	chr2:234529944-234529951 chr2:234529943-234529952 chr2:234529940-234529953 chr2:234529941-234529954
30	STAT3	chr2:234537465-234537614	MCF10A-Er-Src	breast:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234545110-234545160	U87	brain:	n/a
2	chr2:234544462-234544512	PANC-1	pancreas:	n/a
3	chr2:234545110-234545160	U87	brain:	n/a
4	chr2:234544462-234544512	PANC-1	pancreas:	n/a
5	chr2:234544271-234544321	NB4	blood:	n/a
6	chr2:234544271-234544321	ovcar-3	ovarian:	n/a
7	chr2:234544995-234545045	MCF-7	breast:	n/a
8	chr2:234545110-234545160	HNPCEpiC	eye:	n/a
9	chr2:234544271-234544321	GM12892	blood:	n/a
10	chr2:234544995-234545045	MCF10A-Er-Src	breast:	n/a
11	chr2:234545177-234545227	HCT-116	colon:	n/a
12	chr2:234544271-234544321	AG09309	skin:	n/a
13	chr2:234545110-234545160	NH-A	brain:	n/a
14	chr2:234545177-234545227	Hepatocyte	liver:	n/a
15	chr2:234545110-234545160	H1-hESC	embryonic stem cell:	embryo
16	chr2:234544462-234544512	SAEC	small airway:	n/a
17	chr2:234544995-234545045	NT2-D1	testis:	n/a
18	chr2:234545177-234545227	HRCEpiC	kidney:	n/a
19	chr2:234544462-234544512	GM12891	blood:	n/a
20	chr2:234545110-234545160	HCT-116	colon:	n/a
21	chr2:234544462-234544512	HCF	heart:	n/a
22	chr2:234545177-234545227	GM12892	blood:	n/a
23	chr2:234545110-234545160	AG04450	lung:	fetal
24	chr2:234544271-234544321	AG10803	skin:	n/a
25	chr2:234544462-234544512	NH-A	brain:	n/a
26	chr2:234545110-234545160	GM12892	blood:	n/a
27	chr2:234544462-234544512	Hela-S3	cervix:	n/a
28	chr2:234545110-234545160	PrEC	prostate:	n/a
29	chr2:234544462-234544512	AG09309	skin:	n/a
30	chr2:234544995-234545045	NHDF-neo	bronchial:	n/a
31	chr2:234544462-234544512	AG04450	lung:	fetal
32	chr2:234545110-234545160	SK-N-SH_RA	brain:	n/a
33	chr2:234545177-234545227	NB4	blood:	n/a
34	chr2:234545177-234545227	AG04450	lung:	fetal
35	chr2:234544995-234545045	SK-N-SH	brain:	n/a
36	chr2:234544995-234545045	BJ	skin:	n/a
37	chr2:234544462-234544512	Jurkat	blood:	n/a
38	chr2:234544995-234545045	SKMC	muscle:	n/a
39	chr2:234545177-234545227	NT2-D1	testis:	n/a
40	chr2:234545177-234545227	GM06990	blood:	n/a
41	chr2:234544271-234544321	SK-N-MC	brain:	n/a
42	chr2:234544995-234545045	AG04449	skin:	fetal
43	chr2:234544271-234544321	MCF10A-Er-Src	breast:	n/a
44	chr2:234544271-234544321	HIPEpiC	eye:	n/a
45	chr2:234545110-234545160	GM12891	blood:	n/a
46	chr2:234545110-234545160	CMK	blood:	n/a
47	chr2:234545177-234545227	SK-N-SH	brain:	n/a
48	chr2:234544462-234544512	Hepatocyte	liver:	n/a
49	chr2:234544995-234545045	AG04450	lung:	fetal
50	chr2:234545110-234545160	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:234534086..234537809-chr2:234597332..234600775,3	MCF-7	breast:
2	2:234543708-234558325..2:234772667-234780240	Hela-S3	cervix:
3	2:234543708-234558325..2:234649753-234657866	Hela-S3	cervix:
4	2:234492023-234494396..2:234543708-234558325	GM12878	blood:

No data

Variant related genes	Relation type
UGT1A10	TF binding region
UGT1A10	CpG island
ENSG00000167165	chromatin interactions
ENSG00000228949	chromatin interactions
ENSG00000228445	chromatin interactions
ENSG00000227802	chromatin interactions
ENSG00000224287	chromatin interactions

Extended variants
information (count: 674 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538567106	chr2:234529347-234529348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13400017	chr2:234529391-234529392	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569005808	chr2:234529404-234529405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17863764	chr2:234529415-234529416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555126317	chr2:234529428-234529429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13011612	chr2:234529429-234529430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13011613	chr2:234529432-234529433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12991744	chr2:234529440-234529441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12991750	chr2:234529447-234529448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12991752	chr2:234529452-234529453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12991757	chr2:234529460-234529461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13028938	chr2:234529469-234529470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559153872	chr2:234529470-234529471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12989151	chr2:234529493-234529494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370282160	chr2:234529511-234529512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12989173	chr2:234529538-234529539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542819714	chr2:234529562-234529563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534249481	chr2:234529587-234529588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554215891	chr2:234529588-234529589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140176908	chr2:234529592-234529593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556835772	chr2:234534122-234534123	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550534815	chr2:234534144-234534145	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573530938	chr2:234534150-234534151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372971905	chr2:234534169-234534170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs190658388	chr2:234534173-234534174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552716543	chr2:234534235-234534236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs573278190	chr2:234534252-234534253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145084951	chr2:234534323-234534324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565143670	chr2:234534353-234534354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575585235	chr2:234534393-234534394	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544966256	chr2:234534394-234534395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183870823	chr2:234534395-234534396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530350056	chr2:234534418-234534419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17862845	chr2:234534456-234534457	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189231648	chr2:234534462-234534463	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560706238	chr2:234534469-234534470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544253493	chr2:234534478-234534479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs369628346	chr2:234534499-234534500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528174199	chr2:234534568-234534569	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551450044	chr2:234534576-234534577	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571204882	chr2:234534589-234534590	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557294621	chr2:234534597-234534598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs573863153	chr2:234534604-234534605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28948384	chr2:234534606-234534607	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17862846	chr2:234534625-234534626	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1597941	chr2:234534648-234534649	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572951728	chr2:234534732-234534733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201356146	chr2:234534751-234534752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs577078305	chr2:234534789-234534790	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538796875	chr2:234534803-234534804	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234528800-234529600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr2:234537800-234538000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
3	chr2:234538000-234544600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:234544400-234545200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:234544600-234544800	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:234544600-234544800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:234544600-234545000	Enhancers	Colonic Mucosa	Colon
8	chr2:234544800-234547600	Active TSS	Duodenum Mucosa	Duodenum
9	chr2:234544800-234548400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:234545200-234545600	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr2:234545200-234545800	Active TSS	Colonic Mucosa	Colon
12	chr2:234545200-234546000	Active TSS	Rectal Smooth Muscle	rectum
13	chr2:234545600-234546000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr2:234545800-234547400	Weak transcription	Colonic Mucosa	Colon
15	chr2:234546000-234546800	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr2:234546800-234547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:234547200-234548000	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr2:234547400-234547800	Active TSS	Colonic Mucosa	Colon
19	chr2:234547400-234547800	Enhancers	NHEK	skin
20	chr2:234547400-234548200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:234547400-234548200	Enhancers	HMEC	breast
22	chr2:234547600-234548200	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:234547800-234554000	Weak transcription	Colonic Mucosa	Colon
24	chr2:234548000-234548200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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