Variant report

Variant	nsv975876
Chromosome Location	chr11:6078574-6079748
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	CTCF	chr11:6078916-6078931	ProgFib	skin:	n/a	n/a
2	POLR2A	chr11:6079302-6079313	Gliobla	brain:	n/a	n/a
3	POLR2A	chr11:6078960-6079278	Gliobla	brain:	n/a	n/a
4	POLR2A	chr11:6078779-6079358	A549	lung:	n/a	n/a
5	POLR2A	chr11:6079077-6079141	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:6078895-6078937	Gliobla	brain:	n/a	n/a
7	POLR2A	chr11:6079066-6079070	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:6078941-6079052	GM12878	blood:	n/a	n/a
9	SPI1	chr11:6078741-6079083	HL-60	blood:	n/a	n/a
10	SPI1	chr11:6078888-6079066	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:6076616..6078585-chr11:6085137..6086663,2	K562	blood:

Variant related genes	Relation type
OR52L2P	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61739062	chr11:6078575-6078576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200952011	chr11:6078610-6078611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55876254	chr11:6078611-6078612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs191126518	chr11:6078615-6078616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182440698	chr11:6078618-6078619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534014064	chr11:6078638-6078639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555485726	chr11:6078651-6078652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573687888	chr11:6078668-6078669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113671256	chr11:6078690-6078691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556286683	chr11:6078715-6078716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73406099	chr11:6078724-6078725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187434209	chr11:6078727-6078728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370745483	chr11:6078732-6078733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61733539	chr11:6078741-6078742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201489518	chr11:6078747-6078748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148824863	chr11:6078778-6078779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542743171	chr11:6078843-6078844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199832348	chr11:6078861-6078862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191792092	chr11:6078866-6078867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531319669	chr11:6078900-6078901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183217359	chr11:6078927-6078928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564750090	chr11:6078937-6078938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61735879	chr11:6078940-6078941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374215123	chr11:6078953-6078954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs58557691	chr11:6078961-6078962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187496329	chr11:6078962-6078963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192015333	chr11:6078973-6078974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113761526	chr11:6078994-6078995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145147775	chr11:6079000-6079001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4448669	chr11:6079001-6079002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537973004	chr11:6079019-6079020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533517464	chr11:6079020-6079021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556484462	chr11:6079024-6079025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61735897	chr11:6079028-6079029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538901862	chr11:6079038-6079039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182631835	chr11:6079040-6079041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61739999	chr11:6079050-6079051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs549140265	chr11:6079068-6079069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554810797	chr11:6079088-6079089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187868116	chr11:6079137-6079138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543169746	chr11:6079139-6079140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564882881	chr11:6079154-6079155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540608647	chr11:6079173-6079174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192744804	chr11:6079184-6079185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146883274	chr11:6079189-6079190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527979136	chr11:6079199-6079200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549134533	chr11:6079203-6079204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567777906	chr11:6079240-6079241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531816039	chr11:6079248-6079249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550034131	chr11:6079279-6079280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6076000-6082400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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