Variant report

Variant	nsv969477
Chromosome Location	chr6:26851087-26851911
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	chr6:26851495-26851720	GM12878	blood:	n/a	n/a
2	EP300	chr6:26851507-26851656	GM12878	blood:	n/a	n/a
3	IRF4	chr6:26851489-26851754	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:26851391-26851521	HepG2	liver:	n/a	n/a
5	POU2F2	chr6:26851395-26851755	GM12878	blood:	n/a	n/a
6	SP1	chr6:26851499-26851750	GM12878	blood:	n/a	chr6:26851719-26851728
7	TCF3	chr6:26851735-26851886	GM12878	blood:	n/a	n/a
8	ZBTB33	chr6:26851499-26851740	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GUSBP2	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200552384	chr6:26851103-26851104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550739761	chr6:26851115-26851116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182523628	chr6:26851140-26851141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529725664	chr6:26851156-26851157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185082650	chr6:26851157-26851158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567127247	chr6:26851158-26851159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538981749	chr6:26851167-26851168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567807406	chr6:26851170-26851171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569114466	chr6:26851187-26851188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537946901	chr6:26851198-26851199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2630954	chr6:26851209-26851210	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs554684772	chr6:26851267-26851268	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574726470	chr6:26851320-26851321	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540652212	chr6:26851404-26851405	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs181238656	chr6:26851411-26851412	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs77666565	chr6:26851415-26851416	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
17	rs185717674	chr6:26851422-26851423	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs10807012	chr6:26851448-26851449	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs530763433	chr6:26851543-26851544	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544306742	chr6:26851554-26851555	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs10807013	chr6:26851559-26851560	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs529771257	chr6:26851590-26851591	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs181626623	chr6:26851688-26851689	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143353164	chr6:26851781-26851782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10946859	chr6:26851785-26851786	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs532623251	chr6:26851877-26851878	Strong transcription 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:38 , 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	chr6:26838400-26853400	Weak transcription	Adipose Nuclei	Adipose
3	chr6:26838800-26857600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:26844400-26854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:26844400-26854800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:26844400-26856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:26844400-26865800	Weak transcription	Ovary	ovary
9	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:26844600-26853200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:26844600-26853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:26844600-26857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:26844800-26857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:26845000-26853400	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
16	chr6:26845200-26851600	Weak transcription	Gastric	stomach
17	chr6:26845400-26853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:26847600-26852800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:26847600-26853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:26847600-26854200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:26848400-26854800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:26848400-26854800	Weak transcription	Lung	lung
23	chr6:26848600-26852600	Strong transcription	Fetal Stomach	stomach
24	chr6:26848800-26851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:26849400-26851800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr6:26849400-26852000	Weak transcription	Brain Anterior Caudate	brain
28	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:26849600-26851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:26849600-26852000	Strong transcription	Spleen	Spleen
31	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:26850000-26851200	Weak transcription	Liver	Liver
33	chr6:26850200-26851200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:26851200-26852000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:26851200-26852200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:26851200-26852200	Strong transcription	Liver	Liver
38	chr6:26851600-26852200	Strong transcription	Gastric	stomach

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