Variant report

Variant	esv3390185
Chromosome Location	chr6:26849873-26861071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

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	CTCF	chr6:26856798-26857038	K562	blood:	n/a	n/a
3	CTCF	chr6:26856706-26857257	K562	blood:	n/a	n/a
4	CTCF	chr6:26856849-26857041	K562	blood:	n/a	n/a
5	EP300	chr6:26851507-26851656	GM12878	blood:	n/a	n/a
6	EP300	chr6:26853724-26853852	GM12878	blood:	n/a	n/a
7	FOXA1	chr6:26858126-26858442	HepG2	liver:	n/a	n/a
8	FOXP2	chr6:26855306-26855674	PFSK-1	brain:	n/a	n/a
9	GABPA	chr6:26855462-26855567	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr6:26850344-26850580	Hela-S3	cervix:	n/a	n/a
11	IRF4	chr6:26851489-26851754	GM12878	blood:	n/a	n/a
12	PAX5	chr6:26850876-26851060	GM12878	blood:	n/a	n/a
13	PAX5	chr6:26854000-26854189	GM12878	blood:	n/a	n/a
14	PBX3	chr6:26858272-26858414	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:26851391-26851521	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:26861030-26861150	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr6:26850872-26851059	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr6:26853993-26854188	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:26853963-26854228	GM12878	blood:	n/a	n/a
20	POU2F2	chr6:26851395-26851755	GM12878	blood:	n/a	n/a
21	POU2F2	chr6:26858325-26858444	GM12878	blood:	n/a	n/a
22	SP1	chr6:26851499-26851750	GM12878	blood:	n/a	chr6:26851719-26851728
23	SP1	chr6:26858234-26858483	GM12878	blood:	n/a	n/a
24	SPI1	chr6:26853720-26853900	GM12878	blood:	n/a	n/a
25	SPI1	chr6:26853712-26853883	K562	blood:	n/a	n/a
26	TCF3	chr6:26853983-26854212	GM12878	blood:	n/a	n/a
27	TCF3	chr6:26851735-26851886	GM12878	blood:	n/a	n/a
28	ZBTB33	chr6:26851499-26851740	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26860451-26860501	PrEC	prostate:	n/a
2	chr6:26860451-26860501	HAEpiC	amniotic membrane:	n/a
3	chr6:26860451-26860501	ECC-1	luminal epithelium:	n/a
4	chr6:26860451-26860501	AoSMC	blood vessel:	n/a
5	chr6:26860451-26860501	HL-60	blood:	n/a
6	chr6:26860451-26860501	NT2-D1	testis:	n/a
7	chr6:26860451-26860501	HepG2	liver:	n/a
8	chr6:26860451-26860501	SAEC	small airway:	n/a
9	chr6:26860451-26860501	K562	blood:	n/a
10	chr6:26860451-26860501	GM12878	blood:	n/a
11	chr6:26860451-26860501	GM06990	blood:	n/a
12	chr6:26860451-26860501	ProgFib	skin:	n/a
13	chr6:26860451-26860501	HEK293	kidney:	embryo
14	chr6:26860451-26860501	H1-hESC	embryonic stem cell:	embryo
15	chr6:26860451-26860501	MCF10A-Er-Src	breast:	n/a
16	chr6:26860451-26860501	AG10803	skin:	n/a
17	chr6:26860451-26860501	GM12891	blood:	n/a
18	chr6:26860451-26860501	HUVEC	blood vessel:	n/a
19	chr6:26860451-26860501	SK-N-MC	brain:	n/a
20	chr6:26860451-26860501	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:26860451-26860501	Hepatocyte	liver:	n/a
22	chr6:26860451-26860501	HCM	heart:	n/a
23	chr6:26860451-26860501	CMK	blood:	n/a
24	chr6:26860451-26860501	HRCEpiC	kidney:	n/a
25	chr6:26860451-26860501	PFSK-1	brain:	n/a
26	chr6:26860451-26860501	NHDF-neo	bronchial:	n/a
27	chr6:26860451-26860501	ovcar-3	ovarian:	n/a
28	chr6:26860451-26860501	AG09319	gingival:	n/a
29	chr6:26860451-26860501	HEEpiC	esophagus:	n/a
30	chr6:26860451-26860501	SK-N-SH_RA	brain:	n/a
31	chr6:26860451-26860501	Caco-2	colon:	n/a
32	chr6:26860451-26860501	HMEC	breast:	n/a
33	chr6:26860451-26860501	IMR90	lung:	fetal
34	chr6:26860451-26860501	Jurkat	blood:	n/a
35	chr6:26860451-26860501	SK-N-SH	brain:	n/a
36	chr6:26860451-26860501	AG09309	skin:	n/a
37	chr6:26860451-26860501	MCF-7	breast:	n/a
38	chr6:26860451-26860501	HCF	heart:	n/a
39	chr6:26860451-26860501	AG04449	skin:	fetal
40	chr6:26860451-26860501	HIPEpiC	eye:	n/a
41	chr6:26860451-26860501	NH-A	brain:	n/a
42	chr6:26860451-26860501	NHBE	bronchial:	n/a
43	chr6:26860451-26860501	HNPCEpiC	eye:	n/a
44	chr6:26860451-26860501	SKMC	muscle:	n/a
45	chr6:26860451-26860501	T-47D	breast:	n/a
46	chr6:26860451-26860501	HRPEpiC	eye:	n/a
47	chr6:26860451-26860501	Hela-S3	cervix:	n/a
48	chr6:26860451-26860501	A549	lung:	n/a
49	chr6:26860451-26860501	NB4	blood:	n/a
50	chr6:26860451-26860501	AG04450	lung:	fetal

No data

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

Extended variants
information (count: 388 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536960460	chr6:26849891-26849892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191286493	chr6:26849894-26849895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10946858	chr6:26849915-26849916	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs12191453	chr6:26849933-26849934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs565069594	chr6:26849935-26849936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575214668	chr6:26849936-26849937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544174504	chr6:26849942-26849943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6905150	chr6:26849991-26849992	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs372693636	chr6:26850002-26850003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529137126	chr6:26850020-26850021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375047806	chr6:26850086-26850087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559279443	chr6:26850104-26850105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528330889	chr6:26850115-26850116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551174684	chr6:26850121-26850122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571335830	chr6:26850148-26850149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537157218	chr6:26850274-26850275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560454569	chr6:26850326-26850327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550554016	chr6:26850347-26850348	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs567273704	chr6:26850375-26850376	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs116175603	chr6:26850466-26850467	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553666071	chr6:26850468-26850469	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs28648073	chr6:26850476-26850477	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573339595	chr6:26850506-26850507	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs113670014	chr6:26850594-26850595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28563091	chr6:26850672-26850673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539246698	chr6:26850744-26850745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28533801	chr6:26850761-26850762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184588192	chr6:26850780-26850781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142456016	chr6:26850782-26850783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2984039	chr6:26850783-26850784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28497262	chr6:26850830-26850831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11759066	chr6:26850836-26850837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs560903676	chr6:26850869-26850870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28631751	chr6:26850886-26850887	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150226043	chr6:26850888-26850889	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs138786869	chr6:26850889-26850890	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556981003	chr6:26850918-26850919	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs376905853	chr6:26850919-26850920	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545187965	chr6:26850948-26850949	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565083723	chr6:26851045-26851046	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530574620	chr6:26851059-26851060	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200552384	chr6:26851103-26851104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550739761	chr6:26851115-26851116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182523628	chr6:26851140-26851141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529725664	chr6:26851156-26851157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185082650	chr6:26851157-26851158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567127247	chr6:26851158-26851159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538981749	chr6:26851167-26851168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567807406	chr6:26851170-26851171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569114466	chr6:26851187-26851188	Weak transcription Strong 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:50 , 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	chr6:26839000-26850600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:26841400-26866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:26844400-26854200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:26844400-26854800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:26844400-26856000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:26844400-26865800	Weak transcription	Ovary	ovary
10	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
11	chr6:26844600-26853200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr6:26844600-26853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:26844600-26857600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:26844800-26857800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:26845000-26853400	Weak transcription	Brain Hippocampus Middle	brain
16	chr6:26845000-26864200	Weak transcription	Pancreas	Pancrea
17	chr6:26845200-26851600	Weak transcription	Gastric	stomach
18	chr6:26845400-26853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:26847600-26852800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:26847600-26853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:26847600-26854200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:26848400-26854800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:26848400-26854800	Weak transcription	Lung	lung
24	chr6:26848600-26852600	Strong transcription	Fetal Stomach	stomach
25	chr6:26848800-26850000	Strong transcription	Liver	Liver
26	chr6:26848800-26851400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:26849200-26866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:26849400-26851800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:26849400-26852000	Weak transcription	Brain Anterior Caudate	brain
30	chr6:26849400-26866600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:26849600-26851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:26849600-26852000	Strong transcription	Spleen	Spleen
33	chr6:26849800-26850200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr6:26849800-26850400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:26849800-26864200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:26850000-26851200	Weak transcription	Liver	Liver
37	chr6:26850200-26851200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:26850400-26865000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:26851200-26852000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:26851200-26852200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:26851200-26852200	Strong transcription	Liver	Liver
42	chr6:26851600-26852200	Strong transcription	Gastric	stomach
43	chr6:26852000-26853600	Weak transcription	Spleen	Spleen
44	chr6:26852000-26866200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr6:26852200-26853800	Weak transcription	Gastric	stomach
46	chr6:26852200-26856200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:26852200-26857400	Weak transcription	Liver	Liver
48	chr6:26852600-26853000	Weak transcription	Fetal Stomach	stomach
49	chr6:26853000-26853600	Strong transcription	Fetal Stomach	stomach
50	chr6:26853600-26864000	Weak transcription	Fetal Stomach	stomach

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