Variant report

Variant	nsv9567
Chromosome Location	chr17:45596159-45598008
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	chr17:45596411-45596603	IMR90	lung:	n/a	n/a
2	FOS	chr17:45596396-45596589	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr17:45596407-45596586	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:45596416-45596422	MCF10A-Er-Src	breast:	n/a	n/a
5	FOSL2	chr17:45596358-45596595	HepG2	liver:	n/a	n/a
6	JUN	chr17:45596397-45596606	HepG2	liver:	n/a	chr17:45596451-45596464
7	JUND	chr17:45596545-45596592	K562	blood:	n/a	n/a
8	JUND	chr17:45596391-45596613	HepG2	liver:	n/a	n/a
9	MAFF	chr17:45596241-45596432	K562	blood:	n/a	chr17:45596383-45596401
10	MAFF	chr17:45596229-45596483	HepG2	liver:	n/a	chr17:45596383-45596401
11	MAFK	chr17:45596223-45596481	HepG2	liver:	n/a	chr17:45596386-45596397 chr17:45596384-45596398 chr17:45596386-45596406 chr17:45596386-45596397
12	MAFK	chr17:45596228-45596474	HepG2	liver:	n/a	chr17:45596386-45596397 chr17:45596384-45596398 chr17:45596386-45596406 chr17:45596386-45596397
13	MAFK	chr17:45596233-45596433	Hela-S3	cervix:	n/a	chr17:45596386-45596397 chr17:45596384-45596398 chr17:45596386-45596406 chr17:45596386-45596397
14	MAFK	chr17:45596278-45596436	K562	blood:	n/a	chr17:45596386-45596397 chr17:45596384-45596398 chr17:45596386-45596406 chr17:45596386-45596397
15	MAFK	chr17:45596221-45596599	IMR90	lung:	n/a	chr17:45596386-45596397 chr17:45596384-45596398 chr17:45596386-45596406 chr17:45596386-45596397
16	POLR2A	chr17:45597787-45597896	MCF-7	breast:	n/a	n/a
17	STAT3	chr17:45596407-45596584	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
NPEPPS	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559436132	chr17:45596257-45596258	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs146531170	chr17:45596273-45596274	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs372484336	chr17:45596400-45596401	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534233304	chr17:45596405-45596406	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs143331284	chr17:45596415-45596416	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs145566180	chr17:45596417-45596418	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568218047	chr17:45596518-45596519	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs143505567	chr17:45596603-45596604	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550537087	chr17:45596618-45596619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570292646	chr17:45596643-45596644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374201696	chr17:45596714-45596715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553043298	chr17:45596727-45596728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572914038	chr17:45596764-45596765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535438802	chr17:45596804-45596805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568287007	chr17:45596819-45596820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs138591852	chr17:45596845-45596846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575810326	chr17:45596890-45596891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544872363	chr17:45596943-45596944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376581845	chr17:45596966-45596967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564695404	chr17:45597089-45597090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4794058	chr17:45597098-45597099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs185028601	chr17:45597124-45597125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115053463	chr17:45597135-45597136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528095681	chr17:45597257-45597258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547842937	chr17:45597313-45597314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561709927	chr17:45597330-45597331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530743062	chr17:45597338-45597339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569081171	chr17:45597348-45597349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs8066119	chr17:45597373-45597374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550850330	chr17:45597390-45597391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190953688	chr17:45597401-45597402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539208342	chr17:45597477-45597478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8078333	chr17:45597516-45597517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546694864	chr17:45597522-45597523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557731108	chr17:45597563-45597564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs8078365	chr17:45597588-45597589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566601742	chr17:45597599-45597600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535854620	chr17:45597606-45597607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374940412	chr17:45597607-45597608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8078492	chr17:45597618-45597619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs8070617	chr17:45597645-45597646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146062967	chr17:45597649-45597650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534064650	chr17:45597657-45597658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538201149	chr17:45597681-45597682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555560324	chr17:45597684-45597685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369084408	chr17:45597703-45597704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs8066721	chr17:45597724-45597725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6504974	chr17:45597726-45597727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs540783349	chr17:45597727-45597728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372882168	chr17:45597837-45597838	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45589400-45596200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr17:45589600-45596600	Weak transcription	A549	lung
3	chr17:45590600-45596400	Weak transcription	Osteobl	bone
4	chr17:45596000-45596800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr17:45596000-45597200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:45596200-45596800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:45596200-45596800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:45596200-45596800	Enhancers	NH-A	brain
9	chr17:45596200-45596800	Enhancers	NHEK	skin
10	chr17:45596400-45596800	Enhancers	Osteobl	bone
11	chr17:45596400-45597800	Enhancers	K562	blood
12	chr17:45596600-45596800	Enhancers	A549	lung
13	chr17:45596600-45598200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr17:45596800-45597200	Weak transcription	A549	lung
15	chr17:45597200-45597600	Enhancers	A549	lung

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