Variant report

Variant	esv3429693
Chromosome Location	chr2:234627837-234638254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:305)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:234628602-234628886	IMR90	lung:	n/a	n/a
2	CEBPB	chr2:234628590-234628882	A549	lung:	n/a	n/a
3	CEBPB	chr2:234629392-234629647	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:234629404-234629738	IMR90	lung:	n/a	n/a
5	CEBPB	chr2:234629368-234629688	A549	lung:	n/a	n/a
6	CEBPB	chr2:234629469-234629743	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr2:234628578-234628882	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:234629490-234629688	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr2:234629399-234629733	A549	lung:	n/a	n/a
10	CEBPB	chr2:234629311-234629877	A549	lung:	n/a	chr2:234629859-234629872
11	CEBPB	chr2:234629390-234629729	MCF-7	breast:	n/a	n/a
12	CEBPB	chr2:234629433-234629733	K562	blood:	n/a	n/a
13	CEBPB	chr2:234628666-234628788	K562	blood:	n/a	n/a
14	CEBPB	chr2:234629363-234629630	K562	blood:	n/a	n/a
15	CEBPB	chr2:234629371-234629739	HepG2	liver:	n/a	n/a
16	CTCF	chr2:234636364-234636471	HepG2	liver:	n/a	n/a
17	CTCF	chr2:234636344-234636472	GM12892	blood:	n/a	n/a
18	CTCF	chr2:234636366-234636464	Gliobla	brain:	n/a	n/a
19	CTCF	chr2:234636348-234636467	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:234636400-234636416	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:234636332-234636470	GM19238	blood:	n/a	n/a
22	CTCF	chr2:234636328-234636471	NHEK	skin:	n/a	n/a
23	CTCF	chr2:234636380-234636530	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr2:234636341-234636470	GM12891	blood:	n/a	n/a
25	CTCF	chr2:234636400-234636550	GM12865	blood:	n/a	n/a
26	CTCF	chr2:234636363-234636464	MCF-7	breast:	n/a	n/a
27	CTCF	chr2:234636345-234636468	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:234636329-234636472	GM19240	blood:	n/a	n/a
29	CTCF	chr2:234636341-234636470	GM19239	blood:	n/a	n/a
30	CTCF	chr2:234633791-234633838	Fibrobl	skin:	n/a	n/a
31	CTCF	chr2:234636320-234636470	HRE	kidney:	n/a	n/a
32	CTCF	chr2:234636359-234636455	GM12878	blood:	n/a	n/a
33	CTCF	chr2:234636340-234636490	GM12866	blood:	n/a	n/a
34	CTCF	chr2:234636258-234636457	GM12878	blood:	n/a	n/a
35	CUX1	chr2:234631146-234631218	GM12878	blood:	n/a	n/a
36	FOXA1	chr2:234634199-234634572	HepG2	liver:	n/a	chr2:234634375-234634390
37	GATA3	chr2:234630047-234630579	MCF-7	breast:	n/a	n/a
38	MYC	chr2:234628255-234628318	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr2:234627988-234628011	H1-hESC	embryonic stem cell:	n/a	n/a
40	PAX5	chr2:234633548-234633936	GM12878	blood:	n/a	n/a
41	PAX5	chr2:234633586-234633890	GM12878	blood:	n/a	n/a
42	POLR2A	chr2:234637809-234637903	Gliobla	brain:	n/a	n/a
43	POLR2A	chr2:234637848-234637849	A549	lung:	n/a	n/a
44	POLR2A	chr2:234631611-234631697	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:234637803-234637807	A549	lung:	n/a	n/a
46	POLR2A	chr2:234631621-234631652	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:234637826-234637834	A549	lung:	n/a	n/a
48	POLR2A	chr2:234631612-234631636	K562	blood:	n/a	n/a
49	RUNX3	chr2:234629798-234630121	GM12878	blood:	n/a	chr2:234630069-234630078 chr2:234630069-234630078
50	RUNX3	chr2:234629888-234630122	GM12878	blood:	n/a	chr2:234630069-234630078 chr2:234630069-234630078

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234637306-234637356	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:234637667-234637717	BE2_C	brain:	n/a
3	chr2:234637574-234637624	H1-hESC	embryonic stem cell:	embryo
4	chr2:234637306-234637356	Hepatocyte	liver:	n/a
5	chr2:234637306-234637356	ovcar-3	ovarian:	n/a
6	chr2:234637253-234637303	ProgFib	skin:	n/a
7	chr2:234637253-234637303	GM12878	blood:	n/a
8	chr2:234637667-234637717	MCF10A-Er-Src	breast:	n/a
9	chr2:234637667-234637717	HCF	heart:	n/a
10	chr2:234636389-234636439	HNPCEpiC	eye:	n/a
11	chr2:234637253-234637303	ovcar-3	ovarian:	n/a
12	chr2:234637306-234637356	AG04449	skin:	fetal
13	chr2:234637574-234637624	BJ	skin:	n/a
14	chr2:234636389-234636439	AG10803	skin:	n/a
15	chr2:234637253-234637303	BJ	skin:	n/a
16	chr2:234637574-234637624	SK-N-SH	brain:	n/a
17	chr2:234637306-234637356	Hela-S3	cervix:	n/a
18	chr2:234636389-234636439	BE2_C	brain:	n/a
19	chr2:234636389-234636439	HPAEpiC	pulmonary alveolar:	n/a
20	chr2:234636389-234636439	GM06990	blood:	n/a
21	chr2:234637306-234637356	GM12878	blood:	n/a
22	chr2:234637574-234637624	Hela-S3	cervix:	n/a
23	chr2:234637306-234637356	BE2_C	brain:	n/a
24	chr2:234637253-234637303	HL-60	blood:	n/a
25	chr2:234637306-234637356	AG10803	skin:	n/a
26	chr2:234637253-234637303	HCT-116	colon:	n/a
27	chr2:234637574-234637624	NB4	blood:	n/a
28	chr2:234637306-234637356	HAEpiC	amniotic membrane:	n/a
29	chr2:234637253-234637303	HRPEpiC	eye:	n/a
30	chr2:234637253-234637303	NT2-D1	testis:	n/a
31	chr2:234637253-234637303	HCF	heart:	n/a
32	chr2:234637306-234637356	NH-A	brain:	n/a
33	chr2:234637253-234637303	HCM	heart:	n/a
34	chr2:234636389-234636439	NB4	blood:	n/a
35	chr2:234637574-234637624	GM12892	blood:	n/a
36	chr2:234637253-234637303	H1-hESC	embryonic stem cell:	embryo
37	chr2:234636389-234636439	HCPEpiC	choroid plexus:	n/a
38	chr2:234637306-234637356	PrEC	prostate:	n/a
39	chr2:234637306-234637356	AoSMC	blood vessel:	n/a
40	chr2:234637667-234637717	HepG2	liver:	n/a
41	chr2:234637306-234637356	NHBE	bronchial:	n/a
42	chr2:234637667-234637717	AoSMC	blood vessel:	n/a
43	chr2:234636389-234636439	NH-A	brain:	n/a
44	chr2:234637574-234637624	AG09319	gingival:	n/a
45	chr2:234636389-234636439	GM12891	blood:	n/a
46	chr2:234636389-234636439	HAEpiC	amniotic membrane:	n/a
47	chr2:234637667-234637717	BJ	skin:	n/a
48	chr2:234637306-234637356	CMK	blood:	n/a
49	chr2:234637253-234637303	U87	brain:	n/a
50	chr2:234636389-234636439	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234637896..234640536-chr2:234645854..234647790,2	MCF-7	breast:
2	2:234635414-234639782..2:234772667-234780240	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HJURP-5	chr2:234630168-234630711	NONHSAT077506

No data

Variant related genes	Relation type
UGT1A8	TF binding region
UGT1A3	TF binding region
RPL17P11	TF binding region
UGT1A8	CpG island
UGT1A3	CpG island
RPL17P11	CpG island
ENSG00000224287	chromatin interactions
ENSG00000248114	chromatin interactions

Extended variants
information (count: 517 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538577466	chr2:234627841-234627842	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147555582	chr2:234627846-234627847	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145806554	chr2:234627849-234627850	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147848546	chr2:234627850-234627851	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72551337	chr2:234627861-234627862	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375836466	chr2:234627890-234627891	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199688431	chr2:234627900-234627901	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12468274	chr2:234627914-234627915	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371816622	chr2:234627925-234627926	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2011404	chr2:234627937-234627938	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146073833	chr2:234627938-234627939	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149433426	chr2:234627939-234627940	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148565852	chr2:234627942-234627943	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs45467894	chr2:234627943-234627944	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs45516494	chr2:234627949-234627950	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149960993	chr2:234627951-234627952	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149079663	chr2:234627963-234627964	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368511777	chr2:234627964-234627965	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546499527	chr2:234627984-234627985	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188312736	chr2:234627987-234627988	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532530633	chr2:234627989-234627990	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs45540231	chr2:234627992-234627993	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569317540	chr2:234628009-234628010	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374656877	chr2:234628018-234628019	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141300284	chr2:234628032-234628033	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538242607	chr2:234628062-234628063	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368434736	chr2:234628063-234628064	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568794982	chr2:234628116-234628117	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138822211	chr2:234628133-234628134	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554107751	chr2:234628142-234628143	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191739325	chr2:234628153-234628154	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372293131	chr2:234628155-234628156	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377261801	chr2:234628177-234628178	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558234193	chr2:234628199-234628200	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112157197	chr2:234628225-234628226	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369777528	chr2:234628226-234628227	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147273707	chr2:234628237-234628238	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201293328	chr2:234628238-234628239	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200363835	chr2:234628241-234628242	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138347224	chr2:234628249-234628250	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74521813	chr2:234628250-234628251	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147312289	chr2:234628258-234628259	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574418679	chr2:234628269-234628270	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3732217	chr2:234628270-234628271	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs560127147	chr2:234628286-234628287	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147342917	chr2:234628292-234628293	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201461954	chr2:234628293-234628294	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375077876	chr2:234628315-234628316	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562977700	chr2:234628334-234628335	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2011219	chr2:234628376-234628377	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234617800-234631600	Weak transcription	Gastric	stomach
2	chr2:234620400-234659200	Weak transcription	Colonic Mucosa	Colon
3	chr2:234620600-234652200	Weak transcription	Esophagus	oesophagus
4	chr2:234626000-234634600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:234626200-234649600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:234626600-234628600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:234626600-234668400	Weak transcription	NHEK	skin
8	chr2:234627200-234630000	Active TSS	Liver	Liver
9	chr2:234627600-234629000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:234627600-234637200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:234627800-234636000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:234628600-234629000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr2:234630000-234630600	Flanking Active TSS	Liver	Liver
14	chr2:234630200-234630800	Enhancers	A549	lung
15	chr2:234630600-234630800	Active TSS	Liver	Liver
16	chr2:234630800-234631000	Flanking Active TSS	Liver	Liver
17	chr2:234630800-234634000	Weak transcription	A549	lung
18	chr2:234631000-234631400	Active TSS	Liver	Liver
19	chr2:234631400-234635800	Weak transcription	Liver	Liver
20	chr2:234633600-234634000	ZNF genes & repeats	Right Atrium	heart
21	chr2:234633800-234634000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:234634000-234634600	Enhancers	A549	lung
23	chr2:234634600-234639400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:234634600-234648400	Weak transcription	A549	lung
25	chr2:234635200-234637000	Weak transcription	Stomach Mucosa	stomach
26	chr2:234635800-234636600	Genic enhancers	Liver	Liver
27	chr2:234636000-234639000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:234636200-234636600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:234636200-234638400	Enhancers	Fetal Intestine Small	intestine
30	chr2:234636600-234637200	Enhancers	Liver	Liver
31	chr2:234636600-234637200	Weak transcription	Gastric	stomach
32	chr2:234637000-234638200	Enhancers	Stomach Mucosa	stomach
33	chr2:234637200-234637400	Flanking Active TSS	Liver	Liver
34	chr2:234637200-234637600	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:234637200-234638000	Enhancers	Gastric	stomach
36	chr2:234637400-234637800	Enhancers	Liver	Liver
37	chr2:234637600-234638200	Bivalent Enhancer	HepG2	liver
38	chr2:234637800-234638600	Flanking Active TSS	Liver	Liver

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