Variant report

Variant	nsv982987
Chromosome Location	chr11:16502817-16506038
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	chr11:16503883-16504034	HepG2	liver:	n/a	chr11:16503939-16503950
2	CTCF	chr11:16505248-16505326	GM20000	blood:	n/a	n/a
3	CTCF	chr11:16505335-16505354	Kidney_OC	kidney:	n/a	n/a
4	E2F6	chr11:16505790-16505926	K562	blood:	n/a	n/a
5	POLR2A	chr11:16506018-16506035	A549	lung:	n/a	n/a
6	POLR2A	chr11:16505745-16505951	ProgFib	skin:	n/a	n/a
7	POLR2A	chr11:16505836-16506330	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr11:16504294-16504375	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SOX6	TF binding region

Extended variants
information (count: 120 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190533790	chr11:16502819-16502820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534442045	chr11:16502862-16502863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182262214	chr11:16502974-16502975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186169580	chr11:16502990-16502991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143851577	chr11:16502994-16502995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201656986	chr11:16503004-16503005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543364844	chr11:16503059-16503060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75553323	chr11:16503105-16503106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549641985	chr11:16503147-16503148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78078828	chr11:16503196-16503197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561703629	chr11:16503222-16503223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564994158	chr11:16503252-16503253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528738523	chr11:16503284-16503285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190446574	chr11:16503293-16503294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571189356	chr11:16503322-16503323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181301329	chr11:16503339-16503340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550239897	chr11:16503362-16503363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568659288	chr11:16503381-16503382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376139241	chr11:16503457-16503458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7101556	chr11:16503466-16503467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs36030535	chr11:16503499-16503500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397805109	chr11:16503507-16503508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554709722	chr11:16503528-16503529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185852370	chr11:16503605-16503606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34138863	chr11:16503629-16503630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558592950	chr11:16503658-16503659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578058096	chr11:16503664-16503665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545445710	chr11:16503667-16503668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143768513	chr11:16503673-16503674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76520708	chr11:16503676-16503677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11023959	chr11:16503720-16503721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61881806	chr11:16503773-16503774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575846310	chr11:16503825-16503826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4582933	chr11:16503826-16503827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191404870	chr11:16503837-16503838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182678347	chr11:16503859-16503860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187802515	chr11:16503874-16503875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531979533	chr11:16503878-16503879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550202615	chr11:16503884-16503885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529654736	chr11:16503945-16503946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35440460	chr11:16503995-16503996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568522688	chr11:16504005-16504006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143527840	chr11:16504020-16504021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549271271	chr11:16504058-16504059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548002320	chr11:16504078-16504079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566623889	chr11:16504127-16504128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370786645	chr11:16504131-16504132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376491449	chr11:16504137-16504138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533780773	chr11:16504169-16504170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558791716	chr11:16504228-16504229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16461600-16510000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:16492400-16506000	Weak transcription	Psoas Muscle	Psoas
3	chr11:16495200-16510200	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:16497200-16516600	Weak transcription	Left Ventricle	heart
5	chr11:16497400-16503000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:16497800-16505800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:16498000-16509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:16499600-16504600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:16503000-16503400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr11:16503400-16505600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:16504600-16505000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:16505000-16505200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:16505000-16509200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:16505600-16506200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:16505800-16506200	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:16506000-16506200	Enhancers	Pancreas	Pancrea
17	chr11:16506000-16506200	Enhancers	Psoas Muscle	Psoas
18	chr11:16506000-16506200	Enhancers	Right Ventricle	heart
19	chr11:16506000-16506400	Enhancers	Adipose Nuclei	Adipose

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