Variant report

Variant	nsv960642
Chromosome Location	chr18:113640-121309
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	BATF	chr18:120902-121146	GM12878	blood:	n/a	n/a
2	BATF	chr18:120882-121225	GM12878	blood:	n/a	n/a
3	CTCF	chr18:119360-119434	MCF-7	breast:	n/a	n/a
4	CTCF	chr18:117732-117812	ProgFib	skin:	n/a	n/a
5	IRF1	chr18:120877-121197	K562	blood:	n/a	n/a
6	IRF1	chr18:120882-121245	K562	blood:	n/a	n/a
7	POLR2A	chr18:120222-120359	MCF-7	breast:	n/a	n/a
8	POLR2A	chr18:119995-120002	MCF-7	breast:	n/a	n/a
9	POLR2A	chr18:120028-120151	MCF-7	breast:	n/a	n/a
10	POLR2A	chr18:120011-120023	MCF-7	breast:	n/a	n/a
11	POLR2A	chr18:120193-120199	MCF-7	breast:	n/a	n/a
12	USF1	chr18:120571-120792	K562	blood:	n/a	n/a

Variant related genes	Relation type
ROCK1P1	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527581988	chr18:120200-120201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146459788	chr18:120206-120207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560660599	chr18:120217-120218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4797475	chr18:120221-120222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs181161187	chr18:120226-120227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4239292	chr18:120245-120246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs186099998	chr18:120259-120260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113830689	chr18:120263-120264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200985170	chr18:120265-120266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370351890	chr18:120267-120268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554500633	chr18:120280-120281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573518364	chr18:120286-120287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57440971	chr18:120296-120297	Enhancers	n/a	n/a	Overlapped CNVs	disease
14	rs551259588	chr18:120365-120366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190936927	chr18:120398-120399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376093051	chr18:120428-120429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369456882	chr18:120457-120458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78119892	chr18:120465-120466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562575241	chr18:120501-120502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369213726	chr18:120528-120529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574546148	chr18:120573-120574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183439928	chr18:120606-120607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs8096198	chr18:120645-120646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187716944	chr18:120665-120666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12967551	chr18:120684-120685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2847089	chr18:120714-120715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs14025	chr18:120722-120723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552175273	chr18:120846-120847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564373517	chr18:120847-120848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531430198	chr18:120861-120862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143005099	chr18:120862-120863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569016965	chr18:120875-120876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536334535	chr18:120880-120881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs116450891	chr18:120881-120882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566730755	chr18:120882-120883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534542771	chr18:120899-120900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559001766	chr18:120958-120959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577437992	chr18:120966-120967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538451002	chr18:120984-120985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535830018	chr18:120994-120995	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:120200-121000	Enhancers	K562	blood

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