Variant report

Variant	nsv965694
Chromosome Location	chr6:26857981-26860369
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	FOXA1	chr6:26858126-26858442	HepG2	liver:	n/a	n/a
2	PBX3	chr6:26858272-26858414	GM12878	blood:	n/a	n/a
3	POU2F2	chr6:26858325-26858444	GM12878	blood:	n/a	n/a
4	SP1	chr6:26858234-26858483	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GUSBP2	TF binding region
ENSG00000243307	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75528464	chr6:26858016-26858017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534727116	chr6:26858017-26858018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370099396	chr6:26858031-26858032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10214927	chr6:26858032-26858033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549685745	chr6:26858063-26858064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200086893	chr6:26858103-26858104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10214924	chr6:26858109-26858110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10214678	chr6:26858112-26858113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551357437	chr6:26858113-26858114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373809465	chr6:26858125-26858126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571268331	chr6:26858159-26858160	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537739903	chr6:26858187-26858188	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs557668435	chr6:26858210-26858211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9295709	chr6:26858220-26858221	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370926630	chr6:26858221-26858222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs10214417	chr6:26858261-26858262	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533351798	chr6:26858268-26858269	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141658974	chr6:26858270-26858271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs139400474	chr6:26858272-26858273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142853593	chr6:26858318-26858319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200196409	chr6:26858368-26858369	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200831510	chr6:26858378-26858379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201796918	chr6:26858424-26858425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs536825225	chr6:26858425-26858426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs200583614	chr6:26858432-26858433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs201659484	chr6:26858440-26858441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs572961216	chr6:26858453-26858454	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200139853	chr6:26858463-26858464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs70981114	chr6:26858489-26858490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10214418	chr6:26858513-26858514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3925440	chr6:26858527-26858528	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs558523533	chr6:26858528-26858529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150883641	chr6:26858543-26858544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534070030	chr6:26858586-26858587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368178630	chr6:26858588-26858589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372130933	chr6:26858616-26858617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543337571	chr6:26858653-26858654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563628778	chr6:26858666-26858667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185844552	chr6:26858667-26858668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139372375	chr6:26858678-26858679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368093003	chr6:26858721-26858722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111642909	chr6:26858730-26858731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572780099	chr6:26858762-26858763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376439589	chr6:26858797-26858798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12181157	chr6:26858818-26858819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551549073	chr6:26858880-26858881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189825017	chr6:26858899-26858900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12177897	chr6:26858906-26858907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374707018	chr6:26858927-26858928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199620037	chr6:26858936-26858937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	21569311	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26838000-26866200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:26844400-26865800	Weak transcription	Ovary	ovary
4	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
6	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:26852000-26866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:26853600-26864000	Weak transcription	Fetal Stomach	stomach

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