Variant report

Variant	nsv574448
Chromosome Location	chr17:15183627-15191921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:15185220-15185528	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr17:15185094-15185596	MCF-7	breast:	n/a	n/a
3	CEBPB	chr17:15185220-15185382	HepG2	liver:	n/a	n/a
4	CEBPB	chr17:15185182-15185520	ECC-1	luminal epithelium:	n/a	n/a
5	CEBPB	chr17:15185177-15185512	HepG2	liver:	n/a	n/a
6	CEBPB	chr17:15185173-15185515	K562	blood:	n/a	n/a
7	CEBPB	chr17:15185150-15185532	IMR90	lung:	n/a	n/a
8	CEBPB	chr17:15185212-15185442	A549	lung:	n/a	n/a
9	CEBPB	chr17:15185168-15185511	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr17:15185153-15185422	HepG2	liver:	n/a	n/a
11	CEBPB	chr17:15191324-15191449	A549	lung:	n/a	n/a
12	CEBPB	chr17:15185127-15185551	MCF-7	breast:	n/a	n/a
13	CEBPB	chr17:15185162-15185560	A549	lung:	n/a	n/a
14	CEBPB	chr17:15191216-15191559	IMR90	lung:	n/a	n/a
15	CEBPB	chr17:15185144-15185529	HepG2	liver:	n/a	n/a
16	CEBPB	chr17:15191278-15191487	HepG2	liver:	n/a	n/a
17	CEBPB	chr17:15185126-15185445	ECC-1	luminal epithelium:	n/a	n/a
18	E2F4	chr17:15185360-15185377	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr17:15191249-15191255	MCF10A-Er-Src	breast:	n/a	n/a
20	GATA3	chr17:15186839-15187028	SH-SY5Y	brain:	n/a	n/a
21	HNF4A	chr17:15185237-15185393	HepG2	liver:	n/a	n/a
22	MAFK	chr17:15187632-15187711	HepG2	liver:	n/a	n/a
23	MYC	chr17:15191432-15191435	NB4	blood:	n/a	n/a
24	MYC	chr17:15187764-15187946	MCF10A-Er-Src	breast:	n/a	n/a
25	NR3C1	chr17:15186771-15187231	A549	lung:	n/a	n/a
26	NR3C1	chr17:15186800-15187269	A549	lung:	n/a	n/a
27	NRF1	chr17:15188131-15188143	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr17:15187814-15188277	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr17:15191267-15191347	Gliobla	brain:	n/a	n/a
30	POLR2A	chr17:15187901-15188280	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr17:15187650-15187672	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr17:15191755-15191910	MCF10A-Er-Src	breast:	n/a	n/a
33	SETDB1	chr17:15185773-15186342	U2OS	brain:	n/a	n/a
34	STAT3	chr17:15191320-15191493	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15182846..15185726-chr17:15187592..15189351,3	MCF-7	breast:
2	chr17:15165826..15168738-chr17:15189800..15192284,3	MCF-7	breast:
3	chr17:15182819..15184688-chr17:15250956..15253066,2	K562	blood:
4	chr17:15181560..15183970-chr17:15189229..15191204,2	K562	blood:
5	chr17:15182846..15185726-chr17:15187592..15189351,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237377	TF binding region
ENSG00000109099	chromatin interactions
ENSG00000237377	chromatin interactions

Extended variants
information (count: 312 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:312 , 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	rs16951285	chr17:15183627-15183628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112953058	chr17:15183737-15183738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113114059	chr17:15183764-15183765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147107525	chr17:15183819-15183820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12449862	chr17:15183829-15183830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181257449	chr17:15183839-15183840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574631593	chr17:15183843-15183844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543907873	chr17:15183925-15183926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138488670	chr17:15184111-15184112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576210526	chr17:15184120-15184121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34320730	chr17:15184130-15184131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544943971	chr17:15184239-15184240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555042576	chr17:15184300-15184301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565212131	chr17:15184335-15184336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141640805	chr17:15184337-15184338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199774063	chr17:15184368-15184369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541075797	chr17:15184388-15184389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560956978	chr17:15184439-15184440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529707639	chr17:15184510-15184511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147380016	chr17:15184528-15184529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541843992	chr17:15184547-15184548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113245138	chr17:15184623-15184624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530608061	chr17:15184631-15184632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75976060	chr17:15184679-15184680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183493968	chr17:15184700-15184701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111241560	chr17:15184716-15184717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534687639	chr17:15184749-15184750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149480705	chr17:15184780-15184781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189188094	chr17:15184783-15184784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143893001	chr17:15184823-15184824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181076471	chr17:15184833-15184834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576144749	chr17:15184886-15184887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148605406	chr17:15184914-15184915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377187209	chr17:15185002-15185003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112172666	chr17:15185049-15185050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8070951	chr17:15185061-15185062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs187157289	chr17:15185069-15185070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561215811	chr17:15185070-15185071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370473780	chr17:15185099-15185100	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs560838120	chr17:15185124-15185125	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111374637	chr17:15185149-15185150	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543133596	chr17:15185161-15185162	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs181526970	chr17:15185162-15185163	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs532593397	chr17:15185176-15185177	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs113851353	chr17:15185185-15185186	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530557401	chr17:15185220-15185221	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs552394311	chr17:15185255-15185256	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs199601423	chr17:15185257-15185258	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146261854	chr17:15185260-15185261	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs555309387	chr17:15185354-15185355	Enhancers Weak transcription	TF binding region	1 gene(s)	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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
2	chr17:15182200-15187600	Weak transcription	Fetal Heart	heart
3	chr17:15182400-15184800	Weak transcription	HSMM	muscle
4	chr17:15183200-15183800	Weak transcription	Right Atrium	heart
5	chr17:15183200-15185200	Weak transcription	NH-A	brain
6	chr17:15183200-15189000	Weak transcription	HSMMtube	muscle
7	chr17:15183600-15185000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:15185000-15185400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:15185200-15185600	Enhancers	NH-A	brain
10	chr17:15185400-15191200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:15186600-15192200	Weak transcription	A549	lung
12	chr17:15187000-15187800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:15187000-15188000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr17:15187200-15187400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr17:15187600-15189200	Enhancers	Fetal Heart	heart
16	chr17:15187800-15188800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:15188000-15188200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:15188600-15189600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr17:15188800-15189600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:15189000-15189400	Enhancers	HSMMtube	muscle
21	chr17:15189000-15189600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr17:15189200-15190600	Weak transcription	Fetal Heart	heart
23	chr17:15189600-15191000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:15189600-15195000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr17:15190600-15191200	Enhancers	Right Atrium	heart
26	chr17:15190600-15191400	Enhancers	Fetal Stomach	stomach
27	chr17:15190600-15191400	Enhancers	Right Ventricle	heart
28	chr17:15190600-15191600	Enhancers	Adipose Nuclei	Adipose
29	chr17:15190600-15192400	Enhancers	Fetal Heart	heart
30	chr17:15190800-15191000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15190800-15191000	Enhancers	Fetal Lung	lung
32	chr17:15190800-15191200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:15190800-15191600	Enhancers	Colon Smooth Muscle	Colon
34	chr17:15190800-15193200	Enhancers	NHDF-Ad	bronchial
35	chr17:15191000-15191200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr17:15191000-15191200	Enhancers	Osteobl	bone
37	chr17:15191000-15191400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:15191000-15191400	Flanking Active TSS	Fetal Lung	lung
39	chr17:15191000-15191400	Enhancers	Fetal Muscle Leg	muscle
40	chr17:15191000-15191400	Enhancers	Psoas Muscle	Psoas
41	chr17:15191000-15191400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr17:15191000-15191600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:15191000-15192000	Enhancers	Rectal Smooth Muscle	rectum
44	chr17:15191200-15191400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr17:15191200-15191400	Enhancers	Gastric	stomach
46	chr17:15191200-15191400	Enhancers	Lung	lung
47	chr17:15191200-15191600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:15191200-15191600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr17:15191200-15191600	Flanking Active TSS	Osteobl	bone
50	chr17:15191200-15191800	Enhancers	Stomach Smooth Muscle	stomach

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