Variant report

Variant	esv3321985
Chromosome Location	chr3:79818462-79822960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr3:79819072-79819167	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr3:79820857-79820904	NB4	blood:	n/a	n/a
3	POLR2A	chr3:79818383-79818796	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr3:79819262-79819386	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr3:79820802-79820824	MCF10A-Er-Src	breast:	n/a	n/a
6	SP1	chr3:79818358-79818732	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr3:79818336-79818768	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:79818505-79818555	Caco-2	colon:	n/a
2	chr3:79818505-79818555	HCPEpiC	choroid plexus:	n/a
3	chr3:79818505-79818555	PANC-1	pancreas:	n/a
4	chr3:79818505-79818555	NHBE	bronchial:	n/a
5	chr3:79818505-79818555	BJ	skin:	n/a
6	chr3:79818505-79818555	NB4	blood:	n/a
7	chr3:79818505-79818555	NHDF-neo	bronchial:	n/a
8	chr3:79818505-79818555	GM19239	blood:	n/a
9	chr3:79818505-79818555	AG04450	lung:	fetal
10	chr3:79818505-79818555	GM06990	blood:	n/a
11	chr3:79818505-79818555	SK-N-MC	brain:	n/a
12	chr3:79818505-79818555	HIPEpiC	eye:	n/a
13	chr3:79818505-79818555	ProgFib	skin:	n/a
14	chr3:79818505-79818555	A549	lung:	n/a
15	chr3:79818505-79818555	GM12892	blood:	n/a
16	chr3:79818505-79818555	AG10803	skin:	n/a
17	chr3:79818505-79818555	CMK	blood:	n/a
18	chr3:79818505-79818555	GM12878	blood:	n/a
19	chr3:79818505-79818555	PrEC	prostate:	n/a
20	chr3:79818505-79818555	HCT-116	colon:	n/a
21	chr3:79818505-79818555	SK-N-SH_RA	brain:	n/a
22	chr3:79818505-79818555	SKMC	muscle:	n/a
23	chr3:79818505-79818555	T-47D	breast:	n/a
24	chr3:79818505-79818555	Jurkat	blood:	n/a
25	chr3:79818505-79818555	AG04449	skin:	fetal
26	chr3:79818505-79818555	SK-N-SH	brain:	n/a
27	chr3:79818505-79818555	K562	blood:	n/a
28	chr3:79818505-79818555	MCF-7	breast:	n/a
29	chr3:79818505-79818555	HCF	heart:	n/a
30	chr3:79818505-79818555	PFSK-1	brain:	n/a
31	chr3:79818505-79818555	GM12891	blood:	n/a
32	chr3:79818505-79818555	HRCEpiC	kidney:	n/a
33	chr3:79818505-79818555	HCM	heart:	n/a
34	chr3:79818505-79818555	AG09319	gingival:	n/a
35	chr3:79818505-79818555	AG09309	skin:	n/a
36	chr3:79818505-79818555	NT2-D1	testis:	n/a
37	chr3:79818505-79818555	HRPEpiC	eye:	n/a
38	chr3:79818505-79818555	MCF10A-Er-Src	breast:	n/a
39	chr3:79818505-79818555	NH-A	brain:	n/a
40	chr3:79818505-79818555	HepG2	liver:	n/a
41	chr3:79818505-79818555	ECC-1	luminal epithelium:	n/a
42	chr3:79818505-79818555	IMR90	lung:	fetal
43	chr3:79818505-79818555	ovcar-3	ovarian:	n/a
44	chr3:79818505-79818555	H1-hESC	embryonic stem cell:	embryo
45	chr3:79818505-79818555	Hela-S3	cervix:	n/a
46	chr3:79818505-79818555	HNPCEpiC	eye:	n/a
47	chr3:79818505-79818555	U87	brain:	n/a
48	chr3:79818505-79818555	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:79818505-79818555	SAEC	small airway:	n/a
50	chr3:79818505-79818555	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:79821220..79822809-chr3:79822885..79824428,2	MCF-7	breast:
2	chr3:79821220..79822809-chr3:79822885..79824428,2	MCF-7	breast:

No data

Variant related genes	Relation type
ROBO1	TF binding region
ROBO1	CpG island

Extended variants
information (count: 144 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144998529	chr3:79818472-79818473	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs551799717	chr3:79818488-79818489	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs113689416	chr3:79818505-79818506	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs527937623	chr3:79818506-79818507	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs547903563	chr3:79818532-79818533	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs569410673	chr3:79818535-79818536	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs567796515	chr3:79818562-79818563	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191950196	chr3:79818587-79818588	Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556569492	chr3:79818626-79818627	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569965863	chr3:79818641-79818642	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534261485	chr3:79818642-79818643	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs58139349	chr3:79818672-79818673	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs538103765	chr3:79818677-79818678	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557770626	chr3:79818689-79818690	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75251632	chr3:79818712-79818713	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540076703	chr3:79818716-79818717	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553433917	chr3:79818729-79818730	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144371420	chr3:79818750-79818751	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs142171415	chr3:79818784-79818785	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542332649	chr3:79818802-79818803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1502290	chr3:79818827-79818828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12632490	chr3:79818831-79818832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377390252	chr3:79818939-79818940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554045249	chr3:79818983-79818984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539958811	chr3:79819108-79819109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs374200465	chr3:79819135-79819136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376003750	chr3:79819167-79819168	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61343544	chr3:79819264-79819265	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9817283	chr3:79819273-79819274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs62256882	chr3:79819284-79819285	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs1463894	chr3:79819293-79819294	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs374541310	chr3:79819362-79819363	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs4547660	chr3:79819368-79819369	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368354685	chr3:79819372-79819373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs67572283	chr3:79820411-79820412	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs67005099	chr3:79820414-79820415	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546291623	chr3:79820419-79820420	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114954053	chr3:79820425-79820426	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200631768	chr3:79820432-79820433	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs71626839	chr3:79820435-79820436	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs199617378	chr3:79820443-79820444	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149711650	chr3:79820444-79820445	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547283148	chr3:79820445-79820446	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs567259045	chr3:79820446-79820447	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529879270	chr3:79820447-79820448	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549682371	chr3:79820450-79820451	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372758515	chr3:79820456-79820457	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs199511772	chr3:79820457-79820458	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs62635961	chr3:79820458-79820459	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs200522901	chr3:79820459-79820460	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79817600-79818600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr3:79817600-79818600	Enhancers	Fetal Brain Male	brain
3	chr3:79817800-79818800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr3:79818000-79818800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:79818000-79819000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:79818200-79818600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:79818200-79818600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:79818400-79818600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:79818600-79818800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:79818600-79819000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:79818600-79819000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:79820400-79821000	Bivalent/Poised TSS	Fetal Lung	lung

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