Variant report

Variant	esv3522684
Chromosome Location	chr17:18269127-18272675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:18272355-18272702	Hela-S3	cervix:	n/a	n/a
2	EP300	chr17:18272383-18272584	K562	blood:	n/a	chr17:18272538-18272545
3	FOS	chr17:18272336-18272638	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:18272393-18272622	MCF10A-Er-Src	breast:	n/a	n/a
5	HDAC2	chr17:18272300-18272717	MCF-7	breast:	n/a	n/a
6	JUND	chr17:18272266-18272588	K562	blood:	n/a	n/a
7	MYC	chr17:18272328-18272672	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr17:18272386-18272656	MCF10A-Er-Src	breast:	n/a	n/a
9	NR2F2	chr17:18272224-18272727	MCF-7	breast:	n/a	n/a
10	RCOR1	chr17:18272338-18272480	K562	blood:	n/a	n/a
11	SIN3AK20	chr17:18272147-18272737	MCF-7	breast:	n/a	n/a
12	STAT3	chr17:18272325-18272535	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr17:18271886-18272073	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF7L2	chr17:18272301-18272595	Hela-S3	cervix:	n/a	n/a
15	TEAD4	chr17:18272276-18272616	K562	blood:	n/a	n/a
16	TFAP2A	chr17:18272353-18272657	Hela-S3	cervix:	n/a	chr17:18272495-18272506 chr17:18272494-18272508 chr17:18272495-18272506 chr17:18272494-18272508 chr17:18272495-18272506 chr17:18272495-18272506 chr17:18272494-18272509
17	TFAP2C	chr17:18272293-18272662	Hela-S3	cervix:	n/a	chr17:18272494-18272509

No.	Distal block	Cell Line	Cell type
1	chr17:18269319..18271121-chr17:18273220..18274892,2	K562	blood:
2	chr17:18271239..18274758-chr17:18277396..18280809,3	MCF-7	breast:
3	chr17:18267096..18271121-chr17:18271318..18274892,4	K562	blood:
4	chr17:18267096..18271121-chr17:18271318..18274892,4	K562	blood:
5	chr17:18271062..18274039-chr17:18283398..18285584,2	MCF-7	breast:
6	chr17:18270877..18271410-chrX:146733355..146734096,2	MCF-7	breast:

Variant related genes	Relation type
SHMT1	TF binding region

Extended variants
information (count: 203 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559554654	chr17:18269139-18269140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557450428	chr17:18269143-18269144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530196473	chr17:18269153-18269154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139241920	chr17:18269154-18269155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565033040	chr17:18269156-18269157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141524152	chr17:18269184-18269185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572799852	chr17:18269207-18269208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541754939	chr17:18269230-18269231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561311079	chr17:18269231-18269232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8080816	chr17:18269245-18269246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139421774	chr17:18269248-18269249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538985704	chr17:18269255-18269256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532924840	chr17:18269267-18269268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190941784	chr17:18269297-18269298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554100690	chr17:18269310-18269311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182766687	chr17:18269311-18269312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548915209	chr17:18269336-18269337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568335974	chr17:18269392-18269393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530941011	chr17:18269408-18269409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550758947	chr17:18269421-18269422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150068889	chr17:18269424-18269425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367967440	chr17:18269440-18269441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371773998	chr17:18269441-18269442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35234808	chr17:18269442-18269443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142914599	chr17:18269443-18269444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72535838	chr17:18269444-18269445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397711175	chr17:18269445-18269446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539596399	chr17:18269462-18269463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552732754	chr17:18269463-18269464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34804270	chr17:18269468-18269469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60247154	chr17:18269493-18269494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566343287	chr17:18269499-18269500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535334752	chr17:18269508-18269509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188883690	chr17:18269558-18269559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61201180	chr17:18269597-18269598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58109991	chr17:18269649-18269650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146055296	chr17:18269665-18269666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544185378	chr17:18269678-18269679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34711277	chr17:18269698-18269699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59828391	chr17:18269701-18269702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551695021	chr17:18269727-18269728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192423148	chr17:18269729-18269730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60683894	chr17:18269730-18269731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28597812	chr17:18269758-18269759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs144966364	chr17:18269807-18269808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139340613	chr17:18269808-18269809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183081424	chr17:18269809-18269810	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
48	rs532066716	chr17:18269914-18269915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540365561	chr17:18269961-18269962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559952870	chr17:18269963-18269964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:162)

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
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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18267200-18271800	Weak transcription	Placenta	Placenta
2	chr17:18267200-18274600	Weak transcription	NHEK	skin
3	chr17:18267200-18288200	Weak transcription	Right Atrium	heart
4	chr17:18267400-18274600	Weak transcription	Hela-S3	cervix
5	chr17:18267400-18277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:18267600-18274800	Weak transcription	K562	blood
7	chr17:18271800-18273800	Enhancers	Placenta	Placenta
8	chr17:18272200-18272600	Enhancers	A549	lung
9	chr17:18272200-18272800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:18272600-18274600	Weak transcription	A549	lung

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