Variant report

Variant	esv3315146
Chromosome Location	chr17:15183136-15186071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:15185220-15185382	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:15185212-15185442	A549	lung:	n/a	n/a
3	CEBPB	chr17:15185177-15185512	HepG2	liver:	n/a	n/a
4	CEBPB	chr17:15185126-15185445	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr17:15185220-15185528	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr17:15185153-15185422	HepG2	liver:	n/a	n/a
7	CEBPB	chr17:15185162-15185560	A549	lung:	n/a	n/a
8	CEBPB	chr17:15185168-15185511	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr17:15185182-15185520	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr17:15185150-15185532	IMR90	lung:	n/a	n/a
11	CEBPB	chr17:15185127-15185551	MCF-7	breast:	n/a	n/a
12	CEBPB	chr17:15185144-15185529	HepG2	liver:	n/a	n/a
13	CEBPB	chr17:15185173-15185515	K562	blood:	n/a	n/a
14	CEBPB	chr17:15185094-15185596	MCF-7	breast:	n/a	n/a
15	E2F4	chr17:15185360-15185377	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr17:15183549-15183577	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr17:15182015-15183186	A549	lung:	n/a	n/a
18	HNF4A	chr17:15185237-15185393	HepG2	liver:	n/a	n/a
19	MAX	chr17:15181610-15183338	A549	lung:	n/a	chr17:15182713-15182723
20	MAX	chr17:15182162-15183271	A549	lung:	n/a	chr17:15182713-15182723
21	SETDB1	chr17:15185773-15186342	U2OS	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15183229-15183279	HRPEpiC	eye:	n/a
2	chr17:15183229-15183279	MCF10A-Er-Src	breast:	n/a
3	chr17:15183229-15183279	RPTEC	kidney:	n/a
4	chr17:15183229-15183279	T-47D	breast:	n/a
5	chr17:15183229-15183279	PANC-1	pancreas:	n/a
6	chr17:15183229-15183279	GM12878	blood:	n/a
7	chr17:15183229-15183279	AG10803	skin:	n/a
8	chr17:15183229-15183279	NT2-D1	testis:	n/a
9	chr17:15183229-15183279	Hepatocyte	liver:	n/a
10	chr17:15183229-15183279	HIPEpiC	eye:	n/a
11	chr17:15183229-15183279	HepG2	liver:	n/a
12	chr17:15183229-15183279	HEK293	kidney:	embryo
13	chr17:15183229-15183279	NHDF-neo	bronchial:	n/a
14	chr17:15183229-15183279	ECC-1	luminal epithelium:	n/a
15	chr17:15183229-15183279	SAEC	small airway:	n/a
16	chr17:15183229-15183279	HCT-116	colon:	n/a
17	chr17:15183229-15183279	NHBE	bronchial:	n/a
18	chr17:15183229-15183279	GM06990	blood:	n/a
19	chr17:15183229-15183279	HMEC	breast:	n/a
20	chr17:15183229-15183279	K562	blood:	n/a
21	chr17:15183229-15183279	NH-A	brain:	n/a
22	chr17:15183229-15183279	Caco-2	colon:	n/a
23	chr17:15183229-15183279	ProgFib	skin:	n/a
24	chr17:15183229-15183279	LNCaP	prostate:	n/a
25	chr17:15183229-15183279	ovcar-3	ovarian:	n/a
26	chr17:15183229-15183279	IMR90	lung:	fetal
27	chr17:15183229-15183279	MCF-7	breast:	n/a
28	chr17:15183229-15183279	A549	lung:	n/a
29	chr17:15183229-15183279	AG09309	skin:	n/a
30	chr17:15183229-15183279	PrEC	prostate:	n/a
31	chr17:15183229-15183279	HRCEpiC	kidney:	n/a
32	chr17:15183229-15183279	AoSMC	blood vessel:	n/a
33	chr17:15183229-15183279	GM12892	blood:	n/a
34	chr17:15183229-15183279	HNPCEpiC	eye:	n/a
35	chr17:15183229-15183279	HCPEpiC	choroid plexus:	n/a
36	chr17:15183229-15183279	SK-N-SH_RA	brain:	n/a
37	chr17:15183229-15183279	AG09319	gingival:	n/a
38	chr17:15183229-15183279	Jurkat	blood:	n/a
39	chr17:15183229-15183279	GM12891	blood:	n/a
40	chr17:15183229-15183279	H1-hESC	embryonic stem cell:	embryo
41	chr17:15183229-15183279	HAEpiC	amniotic membrane:	n/a
42	chr17:15183229-15183279	HUVEC	blood vessel:	n/a
43	chr17:15183229-15183279	SKMC	muscle:	n/a
44	chr17:15183229-15183279	GM19239	blood:	n/a
45	chr17:15183229-15183279	NB4	blood:	n/a
46	chr17:15183229-15183279	HRE	kidney:	n/a
47	chr17:15183229-15183279	HEEpiC	esophagus:	n/a
48	chr17:15183229-15183279	HL-60	blood:	n/a
49	chr17:15183229-15183279	BJ	skin:	n/a
50	chr17:15183229-15183279	SK-N-SH	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15182819..15184688-chr17:15250956..15253066,2	K562	blood:
2	chr17:15182846..15185726-chr17:15187592..15189351,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237377	TF binding region
ENSG00000237377	CpG island

Extended variants
information (count: 104 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9894454	chr17:15183182-15183183	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377699695	chr17:15183183-15183184	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188442664	chr17:15183192-15183193	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558702117	chr17:15183203-15183204	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs564701743	chr17:15183229-15183230	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs76476804	chr17:15183230-15183231	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs76920564	chr17:15183271-15183272	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs34432599	chr17:15183272-15183273	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs375888594	chr17:15183275-15183276	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs397762611	chr17:15183276-15183277	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs80343157	chr17:15183277-15183278	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs199996635	chr17:15183279-15183280	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs35386588	chr17:15183296-15183297	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs397796905	chr17:15183302-15183303	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs148295259	chr17:15183309-15183310	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77660907	chr17:15183317-15183318	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs530315544	chr17:15183394-15183395	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs538718172	chr17:15183438-15183439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140632748	chr17:15183515-15183516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538934744	chr17:15183586-15183587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16951285	chr17:15183627-15183628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs112953058	chr17:15183737-15183738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113114059	chr17:15183764-15183765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147107525	chr17:15183819-15183820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12449862	chr17:15183829-15183830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs181257449	chr17:15183839-15183840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574631593	chr17:15183843-15183844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543907873	chr17:15183925-15183926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138488670	chr17:15184111-15184112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576210526	chr17:15184120-15184121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34320730	chr17:15184130-15184131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544943971	chr17:15184239-15184240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555042576	chr17:15184300-15184301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565212131	chr17:15184335-15184336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141640805	chr17:15184337-15184338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199774063	chr17:15184368-15184369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541075797	chr17:15184388-15184389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560956978	chr17:15184439-15184440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529707639	chr17:15184510-15184511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147380016	chr17:15184528-15184529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541843992	chr17:15184547-15184548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113245138	chr17:15184623-15184624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530608061	chr17:15184631-15184632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75976060	chr17:15184679-15184680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183493968	chr17:15184700-15184701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111241560	chr17:15184716-15184717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534687639	chr17:15184749-15184750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149480705	chr17:15184780-15184781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189188094	chr17:15184783-15184784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143893001	chr17:15184823-15184824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
2	chr17:15180800-15183600	Enhancers	Hela-S3	cervix
3	chr17:15181600-15183400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr17:15181600-15183400	Flanking Active TSS	A549	lung
5	chr17:15181800-15183200	Enhancers	HSMMtube	muscle
6	chr17:15182200-15183200	Enhancers	HMEC	breast
7	chr17:15182200-15183200	Enhancers	NH-A	brain
8	chr17:15182200-15183200	Enhancers	NHLF	lung
9	chr17:15182200-15183600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:15182200-15187600	Weak transcription	Fetal Heart	heart
11	chr17:15182400-15183200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:15182400-15183400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:15182400-15183400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr17:15182400-15183600	Enhancers	NHDF-Ad	bronchial
15	chr17:15182400-15184800	Weak transcription	HSMM	muscle
16	chr17:15182800-15183200	Enhancers	Osteobl	bone
17	chr17:15183000-15183200	Enhancers	Right Atrium	heart
18	chr17:15183000-15183400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:15183200-15183800	Weak transcription	Right Atrium	heart
20	chr17:15183200-15185200	Weak transcription	NH-A	brain
21	chr17:15183200-15189000	Weak transcription	HSMMtube	muscle
22	chr17:15183600-15185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:15185000-15185400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:15185200-15185600	Enhancers	NH-A	brain
25	chr17:15185400-15191200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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