Variant report

Variant	esv3426338
Chromosome Location	chr17:16842157-16842598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:16842299-16842597	GM12878	blood:	n/a	n/a
2	CTCF	chr17:16842200-16842350	GM12864	blood:	n/a	n/a
3	POLR2A	chr17:16841832-16842208	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:16834953-16843440	GM12878	blood:	n/a	n/a
5	POLR2A	chr17:16841240-16842318	GM12892	blood:	n/a	n/a
6	POLR2A	chr17:16842305-16842837	GM12892	blood:	n/a	n/a
7	POLR2A	chr17:16841704-16842306	GM12891	blood:	n/a	n/a
8	POLR2A	chr17:16842369-16842735	GM12891	blood:	n/a	n/a
9	POLR2A	chr17:16841850-16842214	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:16842393-16842588	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:16841814-16842175	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:16841769-16842269	GM12892	blood:	n/a	n/a
13	POLR2A	chr17:16841701-16842897	GM12892	blood:	n/a	n/a
14	POLR2A	chr17:16840620-16844926	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:16842452-16842658	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:16841790-16842195	GM12891	blood:	n/a	n/a
17	POLR2A	chr17:16841768-16842201	GM12892	blood:	n/a	n/a
18	POLR2A	chr17:16841754-16842240	GM12891	blood:	n/a	n/a
19	POLR2A	chr17:16842329-16842754	GM12891	blood:	n/a	n/a
20	POLR2A	chr17:16841818-16842234	GM12878	blood:	n/a	n/a
21	RUNX3	chr17:16842343-16842631	GM12878	blood:	n/a	n/a
22	STAT5A	chr17:16837390-16842245	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16842469-16842519	SK-N-MC	brain:	n/a
2	chr17:16842469-16842519	ECC-1	luminal epithelium:	n/a
3	chr17:16842469-16842519	HRPEpiC	eye:	n/a
4	chr17:16842469-16842519	PrEC	prostate:	n/a
5	chr17:16842469-16842519	HMEC	breast:	n/a
6	chr17:16842469-16842519	SK-N-SH	brain:	n/a
7	chr17:16842469-16842519	PFSK-1	brain:	n/a
8	chr17:16842469-16842519	HAEpiC	amniotic membrane:	n/a
9	chr17:16842469-16842519	AG04450	lung:	fetal
10	chr17:16842469-16842519	T-47D	breast:	n/a
11	chr17:16842469-16842519	SKMC	muscle:	n/a
12	chr17:16842469-16842519	A549	lung:	n/a
13	chr17:16842469-16842519	GM06990	blood:	n/a
14	chr17:16842469-16842519	GM12878	blood:	n/a
15	chr17:16842469-16842519	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:16842469-16842519	HL-60	blood:	n/a
17	chr17:16842469-16842519	Hepatocyte	liver:	n/a
18	chr17:16842469-16842519	AG10803	skin:	n/a
19	chr17:16842469-16842519	LNCaP	prostate:	n/a
20	chr17:16842469-16842519	BE2_C	brain:	n/a
21	chr17:16842469-16842519	Hela-S3	cervix:	n/a
22	chr17:16842469-16842519	NT2-D1	testis:	n/a
23	chr17:16842469-16842519	GM12892	blood:	n/a
24	chr17:16842469-16842519	HRE	kidney:	n/a
25	chr17:16842469-16842519	MCF-7	breast:	n/a
26	chr17:16842469-16842519	BJ	skin:	n/a
27	chr17:16842469-16842519	NH-A	brain:	n/a
28	chr17:16842469-16842519	Caco-2	colon:	n/a
29	chr17:16842469-16842519	K562	blood:	n/a
30	chr17:16842469-16842519	NHBE	bronchial:	n/a
31	chr17:16842469-16842519	GM12891	blood:	n/a
32	chr17:16842469-16842519	AG09319	gingival:	n/a
33	chr17:16842469-16842519	HEEpiC	esophagus:	n/a
34	chr17:16842469-16842519	CMK	blood:	n/a
35	chr17:16842469-16842519	HUVEC	blood vessel:	n/a
36	chr17:16842469-16842519	GM19239	blood:	n/a
37	chr17:16842469-16842519	HCF	heart:	n/a
38	chr17:16842469-16842519	MCF10A-Er-Src	breast:	n/a
39	chr17:16842469-16842519	U87	brain:	n/a
40	chr17:16842469-16842519	PANC-1	pancreas:	n/a
41	chr17:16842469-16842519	SK-N-SH_RA	brain:	n/a
42	chr17:16842469-16842519	HepG2	liver:	n/a
43	chr17:16842469-16842519	IMR90	lung:	fetal
44	chr17:16842469-16842519	ProgFib	skin:	n/a
45	chr17:16842469-16842519	NHDF-neo	bronchial:	n/a
46	chr17:16842469-16842519	SAEC	small airway:	n/a
47	chr17:16842469-16842519	HIPEpiC	eye:	n/a
48	chr17:16842469-16842519	ovcar-3	ovarian:	n/a
49	chr17:16842469-16842519	Jurkat	blood:	n/a
50	chr17:16842469-16842519	AG04449	skin:	fetal

No data

Variant related genes	Relation type
TBC1D27	TF binding region
TBC1D27	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539758391	chr17:16842203-16842204	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139423949	chr17:16842232-16842233	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566345616	chr17:16842270-16842271	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559795581	chr17:16842271-16842272	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs374647952	chr17:16842276-16842277	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs55672385	chr17:16842313-16842314	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs55703181	chr17:16842323-16842324	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557754207	chr17:16842335-16842336	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs56399647	chr17:16842376-16842377	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs55866333	chr17:16842386-16842387	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs55701306	chr17:16842447-16842448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs190709636	chr17:16842469-16842470	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs71362290	chr17:16842472-16842473	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs56059714	chr17:16842508-16842509	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs562213676	chr17:16842512-16842513	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs531106002	chr17:16842567-16842568	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551158631	chr17:16842585-16842586	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs564544575	chr17:16842586-16842587	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs561141258	chr17:16842587-16842588	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
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
Melanoma	18172304	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
Oral squamous cell carcinoma	17134496	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
Colorectal cancer	16774939	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16834800-16842800	Weak transcription	Spleen	Spleen
2	chr17:16837200-16844400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr17:16838400-16843000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:16840000-16843800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:16840800-16847400	Strong transcription	GM12878-XiMat	blood
6	chr17:16841000-16846600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr17:16841400-16842600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr17:16841400-16843000	Enhancers	Fetal Thymus	thymus
9	chr17:16841600-16842400	Enhancers	Fetal Muscle Leg	muscle
10	chr17:16841800-16842400	Flanking Active TSS	Dnd41	blood
11	chr17:16841800-16844200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:16841800-16844400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:16842000-16842400	Enhancers	Brain Anterior Caudate	brain
14	chr17:16842000-16842600	Enhancers	Fetal Brain Female	brain
15	chr17:16842000-16843000	Enhancers	Thymus	Thymus
16	chr17:16842000-16843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr17:16842000-16844800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:16842400-16842600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:16842400-16842800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:16842400-16842800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr17:16842400-16843400	Enhancers	Dnd41	blood
22	chr17:16842400-16846400	Weak transcription	Brain Anterior Caudate	brain

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