Variant report

Variant	rs13077134
Chromosome Location	chr3:47447673-47447674
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47447667-47447846	MCF-7	breast:	n/a	n/a
2	MAX	chr3:47447229-47448662	K562	blood:	n/a	chr3:47447588-47447598
3	E2F6	chr3:47447480-47448597	K562	blood:	n/a	chr3:47448299-47448310
4	MAX	chr3:47447639-47448496	K562	blood:	n/a	n/a
5	BHLHE40	chr3:47447624-47448411	K562	blood:	n/a	n/a
6	POLR2A	chr3:47447290-47448530	K562	blood:	n/a	n/a
7	CBX3	chr3:47447438-47448604	K562	blood:	n/a	n/a
8	MAZ	chr3:47447564-47448596	K562	blood:	n/a	chr3:47447588-47447598
9	ZNF263	chr3:47447290-47447814	HEK293-T-REx	kidney:	n/a	n/a
10	RCOR1	chr3:47447501-47448586	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47421193..47424069-chr3:47445764..47449832,6	MCF-7	breast:
2	chr3:47420808..47423598-chr3:47443683..47449500,5	K562	blood:
3	chr3:47420814..47424464-chr3:47445498..47448053,3	K562	blood:
4	chr3:47432633..47435080-chr3:47446859..47450404,3	K562	blood:
5	chr3:47446881..47449586-chr3:47515417..47517364,2	K562	blood:
6	chr3:47431748..47433338-chr3:47447535..47449419,2	MCF-7	breast:
7	chr3:47446357..47448699-chr3:47469117..47470926,2	K562	blood:

No data

Variant related genes	Relation type
PTPN23	TF binding region
ENSG00000114650	Chromatin interaction
ENSG00000260236	Chromatin interaction
ENSG00000076201	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1024036	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs1038393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	0.89[AMR][1000 genomes]
rs11707272	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12330516	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12491029	1.00[YRI][hapmap]
rs12631697	1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs13323092	1.00[EUR][1000 genomes]
rs1531874	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2170814	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs28735306	1.00[EUR][1000 genomes]
rs295431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs295444	1.00[EUR][1000 genomes]
rs295445	1.00[EUR][1000 genomes]
rs295448	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858834	0.89[AMR][1000 genomes]
rs4858855	0.87[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	1.00[EUR][1000 genomes]
rs6442068	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs6778673	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6778687	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6783591	1.00[EUR][1000 genomes]
rs6785538	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6788978	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808117	1.00[EUR][1000 genomes]
rs6808629	1.00[EUR][1000 genomes]
rs7372780	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7644043	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649413	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs900688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900693	0.89[YRI][hapmap]
rs900694	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	1.00[YRI][hapmap]
rs924009	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs9826488	1.00[EUR][1000 genomes]
rs9828124	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828473	1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	1.00[EUR][1000 genomes]
rs9869489	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47423800-47448000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:47423800-47449800	Weak transcription	A549	lung
3	chr3:47426200-47462400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:47427600-47448400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr3:47428200-47449000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:47430200-47449600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:47431000-47448600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:47436000-47454600	Weak transcription	Hela-S3	cervix
9	chr3:47436200-47462000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:47436600-47447800	Weak transcription	Small Intestine	intestine
11	chr3:47436600-47454800	Weak transcription	Fetal Kidney	kidney
12	chr3:47436800-47447800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:47437000-47448200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr3:47437000-47450000	Weak transcription	HUVEC	blood vessel
15	chr3:47437600-47453400	Weak transcription	Psoas Muscle	Psoas
16	chr3:47437800-47462800	Weak transcription	Fetal Brain Male	brain
17	chr3:47439000-47448000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:47439000-47448800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:47439200-47449200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:47439200-47455000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:47441200-47447800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr3:47441400-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:47441600-47448200	Weak transcription	Fetal Thymus	thymus
25	chr3:47442000-47452800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:47444800-47459400	Strong transcription	Liver	Liver
27	chr3:47445000-47449800	Strong transcription	Primary B cells from cord blood	blood
28	chr3:47445000-47451400	Strong transcription	Primary T cells from cord blood	blood
29	chr3:47445000-47462000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr3:47445000-47462400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:47445000-47462800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:47445200-47447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:47445200-47448000	Enhancers	HSMMtube	muscle
34	chr3:47445600-47462800	Strong transcription	Fetal Brain Female	brain
35	chr3:47445800-47455600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr3:47446000-47447800	Enhancers	Brain Anterior Caudate	brain
37	chr3:47446000-47447800	Enhancers	Right Atrium	heart
38	chr3:47446000-47448000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:47446000-47448000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:47446000-47448000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:47446000-47448200	Genic enhancers	Fetal Muscle Leg	muscle
42	chr3:47446000-47448400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr3:47446000-47448400	Genic enhancers	Gastric	stomach
44	chr3:47446000-47448400	Genic enhancers	Lung	lung
45	chr3:47446000-47448600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr3:47446000-47448600	Enhancers	Stomach Mucosa	stomach
47	chr3:47446000-47448800	Genic enhancers	Fetal Intestine Large	intestine
48	chr3:47446000-47449000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:47446000-47449600	Strong transcription	Thymus	Thymus
50	chr3:47446000-47450200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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