Variant report

Variant	rs7644043
Chromosome Location	chr3:47470569-47470570
allele	C/T
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	GATA1	chr3:47469774-47470728	PBDE	blood:	n/a	chr3:47469909-47469916
2	YY1	chr3:47470279-47470576	H1-hESC	embryonic stem cell:	n/a	chr3:47470455-47470467 chr3:47470396-47470408
3	STAT1	chr3:47470337-47470738	Hela-S3	cervix:	n/a	chr3:47470542-47470553
4	YY1	chr3:47470272-47470576	K562	blood:	n/a	chr3:47470455-47470467 chr3:47470396-47470408
5	YY1	chr3:47470219-47470612	H1-hESC	embryonic stem cell:	n/a	chr3:47470455-47470467 chr3:47470396-47470408
6	YY1	chr3:47470299-47470591	GM12878	blood:	n/a	chr3:47470455-47470467 chr3:47470396-47470408

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47446357..47448699-chr3:47469117..47470926,2	K562	blood:
2	chr3:47422408..47424430-chr3:47469124..47471898,2	K562	blood:

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

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1024036	1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs1038393	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10865945	1.00[EUR][1000 genomes]
rs10865947	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1091068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11707272	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11922925	1.00[EUR][1000 genomes]
rs12488371	1.00[EUR][1000 genomes]
rs12491029	1.00[YRI][hapmap]
rs12631697	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13077134	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13078181	1.00[EUR][1000 genomes]
rs1531874	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1872165	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874264	1.00[EUR][1000 genomes]
rs1979736	1.00[EUR][1000 genomes]
rs2170814	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2350642	1.00[EUR][1000 genomes]
rs295431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295432	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295434	1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295443	0.91[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];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];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295450	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295451	0.82[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295454	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295456	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295457	0.82[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs295459	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs448018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858823	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858855	1.00[AMR][1000 genomes]
rs4858896	1.00[EUR][1000 genomes]
rs6442062	1.00[EUR][1000 genomes]
rs6442063	1.00[EUR][1000 genomes]
rs6442066	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6442068	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442069	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs648226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6767868	1.00[EUR][1000 genomes]
rs6772449	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs6778673	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787210	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs6788978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6789730	0.84[AFR][1000 genomes];0.87[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];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831482	1.00[EUR][1000 genomes]
rs7612191	0.87[AMR][1000 genomes]
rs7615774	1.00[EUR][1000 genomes]
rs7621853	0.87[AMR][1000 genomes]
rs7630154	1.00[EUR][1000 genomes]
rs7639121	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs7643150	1.00[EUR][1000 genomes]
rs7649413	0.90[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs7652492	1.00[EUR][1000 genomes]
rs807930	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs807933	1.00[EUR][1000 genomes]
rs900688	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900689	0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900690	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900691	1.00[EUR][1000 genomes]
rs900692	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs900693	0.90[ASW][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs900694	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs903538	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs924009	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9828124	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852167	1.00[EUR][1000 genomes]
rs9859947	1.00[MEX][hapmap]
rs9861247	1.00[EUR][1000 genomes]
rs9861265	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47441000-47476800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47450400-47484800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:47456000-47473000	Strong transcription	Thymus	Thymus
4	chr3:47461800-47478800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:47463000-47470600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:47463000-47485200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:47463200-47470600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:47463200-47472800	Weak transcription	HUVEC	blood vessel
9	chr3:47463200-47472800	Weak transcription	NHDF-Ad	bronchial
10	chr3:47463200-47473000	Weak transcription	NH-A	brain
11	chr3:47463200-47474400	Weak transcription	Fetal Kidney	kidney
12	chr3:47463400-47470600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:47463400-47471200	Weak transcription	Fetal Brain Male	brain
14	chr3:47463400-47475400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr3:47463400-47477600	Strong transcription	Fetal Thymus	thymus
16	chr3:47463400-47484600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:47463600-47471600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:47463600-47472400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:47463600-47476800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:47463600-47476800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:47463600-47484800	Strong transcription	Primary T cells from cord blood	blood
22	chr3:47463800-47471400	Strong transcription	Fetal Brain Female	brain
23	chr3:47463800-47472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr3:47463800-47473000	Strong transcription	Fetal Stomach	stomach
25	chr3:47463800-47476800	Strong transcription	Fetal Muscle Leg	muscle
26	chr3:47463800-47479400	Weak transcription	A549	lung
27	chr3:47464000-47470800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:47464000-47474800	Weak transcription	HSMM	muscle
29	chr3:47464000-47476600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr3:47464000-47476800	Strong transcription	Dnd41	blood
31	chr3:47464000-47484200	Weak transcription	Right Atrium	heart
32	chr3:47464600-47470800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:47464600-47471400	Weak transcription	Fetal Heart	heart
34	chr3:47464600-47473200	Strong transcription	Primary B cells from cord blood	blood
35	chr3:47464600-47474000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:47464600-47476800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:47464600-47476800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:47464800-47471600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:47464800-47472800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:47464800-47476600	Strong transcription	Spleen	Spleen
41	chr3:47464800-47477200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr3:47465200-47472600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr3:47465200-47476600	Strong transcription	Lung	lung
44	chr3:47465200-47476800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:47465200-47476800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr3:47465200-47476800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr3:47465200-47476800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:47465400-47473200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:47465400-47484600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr3:47465600-47476800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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