Variant report

Variant	nsv965795
Chromosome Location	chr6:26855844-26857981
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	chr6:26856706-26857257	K562	blood:	n/a	n/a
2	CTCF	chr6:26856798-26857038	K562	blood:	n/a	n/a
3	CTCF	chr6:26856849-26857041	K562	blood:	n/a	n/a

Variant related genes	Relation type
GUSBP2	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375238771	chr6:26855859-26855860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375069479	chr6:26855865-26855866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368399861	chr6:26855875-26855876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547325993	chr6:26855883-26855884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570294809	chr6:26855913-26855914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539273779	chr6:26855941-26855942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555962636	chr6:26855988-26855989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62400809	chr6:26856030-26856031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376414984	chr6:26856040-26856041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201856569	chr6:26856060-26856061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535545313	chr6:26856083-26856084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141974550	chr6:26856085-26856086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199541548	chr6:26856093-26856094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572054459	chr6:26856107-26856108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182368039	chr6:26856130-26856131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115289317	chr6:26856141-26856142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201768797	chr6:26856150-26856151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538557145	chr6:26856162-26856163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558523873	chr6:26856193-26856194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199665365	chr6:26856214-26856215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578201042	chr6:26856231-26856232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556169873	chr6:26856234-26856235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563924822	chr6:26856300-26856301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574012689	chr6:26856328-26856329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200098442	chr6:26856381-26856382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377208568	chr6:26856385-26856386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62400810	chr6:26856417-26856418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543112299	chr6:26856439-26856440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577713383	chr6:26856515-26856516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528518717	chr6:26856523-26856524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544735458	chr6:26856577-26856578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9379941	chr6:26856590-26856591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187084582	chr6:26856598-26856599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77338385	chr6:26856600-26856601	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
35	rs578248587	chr6:26856609-26856610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371940580	chr6:26856610-26856611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564008494	chr6:26856613-26856614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572090937	chr6:26856616-26856617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191136575	chr6:26856620-26856621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533073462	chr6:26856693-26856694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549524068	chr6:26856695-26856696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569834967	chr6:26856707-26856708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183571031	chr6:26856740-26856741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549102846	chr6:26856744-26856745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200250695	chr6:26856852-26856853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200882041	chr6:26856889-26856890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534630876	chr6:26856972-26856973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9885950	chr6:26856983-26856984	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62400811	chr6:26857010-26857011	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs578241981	chr6:26857034-26857035	Weak transcription	TF binding region	1 gene(s)	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:17 , 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	chr6:26838800-26857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:26844400-26856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:26844400-26865800	Weak transcription	Ovary	ovary
6	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:26844600-26857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:26844800-26857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
10	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:26852000-26866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:26852200-26856200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:26852200-26857400	Weak transcription	Liver	Liver
17	chr6:26853600-26864000	Weak transcription	Fetal Stomach	stomach

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