Variant report

Variant	esv11149
Chromosome Location	chr2:234492605-234501401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:234500843-234501043	K562	blood:	n/a	n/a
2	BATF	chr2:234495601-234495908	GM12878	blood:	n/a	n/a
3	BATF	chr2:234495653-234495913	GM12878	blood:	n/a	n/a
4	CEBPB	chr2:234493163-234493281	A549	lung:	n/a	n/a
5	CEBPB	chr2:234493082-234493353	HepG2	liver:	n/a	n/a
6	CTCF	chr2:234494246-234494305	LNCaP	prostate:	n/a	n/a
7	CTCF	chr2:234500410-234500464	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr2:234495766-234495803	GM10266	blood:	n/a	n/a
9	CTCF	chr2:234494271-234494410	Spleen_OC	spleen:	n/a	n/a
10	FOXA1	chr2:234492884-234493164	HepG2	liver:	n/a	n/a
11	HEY1	chr2:234492299-234492609	K562	blood:	n/a	n/a
12	IRF4	chr2:234495571-234495944	GM12878	blood:	n/a	n/a
13	JUND	chr2:234499003-234499092	HepG2	liver:	n/a	n/a
14	MAFF	chr2:234499549-234499704	HepG2	liver:	n/a	chr2:234499631-234499649
15	MAFK	chr2:234499566-234499749	HepG2	liver:	n/a	chr2:234499633-234499648
16	MAFK	chr2:234499515-234499730	IMR90	lung:	n/a	chr2:234499633-234499648
17	MAFK	chr2:234499484-234499801	HepG2	liver:	n/a	chr2:234499633-234499648
18	MYC	chr2:234493289-234493432	K562	blood:	n/a	n/a
19	POLR2A	chr2:234494108-234494267	A549	lung:	n/a	n/a
20	RCOR1	chr2:234499351-234499466	K562	blood:	n/a	n/a
21	SPI1	chr2:234501111-234501366	GM12878	blood:	n/a	chr2:234501251-234501260
22	STAT3	chr2:234496714-234496842	MCF10A-Er-Src	breast:	n/a	n/a
23	TBL1XR1	chr2:234495715-234495884	GM12878	blood:	n/a	n/a
24	YY1	chr2:234492289-234492626	K562	blood:	n/a	chr2:234492493-234492505
25	YY1	chr2:234492162-234492624	H1-hESC	embryonic stem cell:	n/a	chr2:234492493-234492505
26	YY1	chr2:234495668-234495879	GM12878	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234494396-234495604..2:234572898-234594986	K562	blood:
2	chr2:234495064..234497019-chr2:234498487..234500716,2	K562	blood:
3	2:234494396-234495604..2:234882053-234898292	K562	blood:
4	2:234498935-234505513..2:234954947-234965240	Hela-S3	cervix:
5	2:234494396-234495604..2:234743181-234749667	Hela-S3	cervix:
6	2:234494396-234495604..2:234625307-234630376	K562	blood:
7	chr2:234495064..234497019-chr2:234498487..234500716,2	K562	blood:
8	2:234494396-234495604..2:234666975-234672018	K562	blood:
9	2:234498935-234505513..2:234572898-234594986	K562	blood:
10	2:234498935-234505513..2:234825998-234827518	Hela-S3	cervix:
11	2:234498935-234505513..2:234835115-234838817	Hela-S3	cervix:
12	2:234498935-234505513..2:234666975-234672018	Hela-S3	cervix:
13	2:234492023-234494396..2:234543708-234558325	GM12878	blood:
14	2:234498935-234505513..2:234743181-234749667	Hela-S3	cervix:
15	chr2:234492474..234494735-chr2:234496256..234497901,2	K562	blood:
16	2:234498935-234505513..2:234543708-234558325	H1-hESC	embryonic stem cell:	embryo
17	chr2:234475176..234476679-chr2:234491140..234493711,2	MCF-7	breast:
18	2:234492023-234494396..2:234743181-234749667	Hela-S3	cervix:
19	2:234498935-234505513..2:234898811-234918017	Hela-S3	cervix:
20	2:234492023-234494396..2:234954947-234965240	Hela-S3	cervix:
21	2:234494396-234495604..2:234898811-234918017	K562	blood:
22	2:234498935-234505513..2:234683624-234705119	K562	blood:
23	2:234498935-234505513..2:234635414-234639782	Hela-S3	cervix:

No data

Variant related genes	Relation type
UGT1A12P	TF binding region
ENSG00000185038	chromatin interactions
ENSG00000228949	chromatin interactions
ENSG00000242366	chromatin interactions
ENSG00000244122	chromatin interactions
ENSG00000243135	chromatin interactions
ENSG00000241635	chromatin interactions
ENSG00000241119	chromatin interactions
ENSG00000072080	chromatin interactions
ENSG00000123485	chromatin interactions
ENSG00000244474	chromatin interactions
ENSG00000242515	chromatin interactions
ENSG00000144481	chromatin interactions
ENSG00000234143	chromatin interactions
ENSG00000085982	chromatin interactions

Extended variants
information (count: 316 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368243354	chr2:234492701-234492702	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs569386914	chr2:234492731-234492732	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs554572458	chr2:234492734-234492735	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs28966988	chr2:234492772-234492773	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs540227500	chr2:234492834-234492835	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs554456333	chr2:234492842-234492843	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs140698004	chr2:234492869-234492870	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs577416723	chr2:234492877-234492878	Active TSS Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs191631526	chr2:234492949-234492950	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs28968500	chr2:234492961-234492962	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs141023663	chr2:234492974-234492975	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs544300852	chr2:234493003-234493004	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs569339079	chr2:234493026-234493027	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs4129945	chr2:234493048-234493049	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183868807	chr2:234493055-234493056	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs546234106	chr2:234493056-234493057	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs554876089	chr2:234493079-234493080	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs566808234	chr2:234493123-234493124	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs149828607	chr2:234493179-234493180	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs534248078	chr2:234493202-234493203	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs144931451	chr2:234493210-234493211	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs574410534	chr2:234493248-234493249	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs528550173	chr2:234493268-234493269	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs142092458	chr2:234493297-234493298	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs368649042	chr2:234493386-234493387	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs537623536	chr2:234493391-234493392	Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs76145205	chr2:234493409-234493410	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs568175163	chr2:234493436-234493437	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs17863749	chr2:234493440-234493441	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs955939	chr2:234493494-234493495	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs191247757	chr2:234493514-234493515	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs141434216	chr2:234493561-234493562	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs368708092	chr2:234493562-234493563	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs372298406	chr2:234493594-234493595	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs577345715	chr2:234493639-234493640	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs955938	chr2:234493659-234493660	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148809144	chr2:234493663-234493664	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs28968501	chr2:234493669-234493670	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556822312	chr2:234493673-234493674	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs576731187	chr2:234493694-234493695	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs143578548	chr2:234493698-234493699	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs148062747	chr2:234493702-234493703	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs529752917	chr2:234493790-234493791	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs150952849	chr2:234493829-234493830	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs373551053	chr2:234493834-234493835	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs186726456	chr2:234493836-234493837	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs4132954	chr2:234493876-234493877	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532466840	chr2:234493880-234493881	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs374744692	chr2:234493980-234493981	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs563019870	chr2:234494055-234494056	Enhancers Weak transcription	Chromatin interactive region	4 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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234486400-234494800	Weak transcription	A549	lung
2	chr2:234492200-234493000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:234492200-234493200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:234492200-234493200	Active TSS	K562	blood
5	chr2:234492200-234493400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:234492400-234492800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr2:234492400-234493200	Enhancers	Liver	Liver
8	chr2:234493000-234493200	Enhancers	HepG2	liver
9	chr2:234493000-234494200	Enhancers	Spleen	Spleen
10	chr2:234493200-234493600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:234493400-234493600	Enhancers	Placenta	Placenta
12	chr2:234495000-234497000	Enhancers	GM12878-XiMat	blood
13	chr2:234496600-234497000	Enhancers	Fetal Intestine Small	intestine
14	chr2:234496600-234497600	Enhancers	Fetal Intestine Large	intestine
15	chr2:234499000-234499400	Bivalent Enhancer	HepG2	liver
16	chr2:234500600-234501200	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:234500600-234502200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:234501200-234501600	Weak transcription	GM12878-XiMat	blood

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