Variant report

Variant	rs1444921
Chromosome Location	chr4:95916509-95916510
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	FOS	chr4:95916390-95916755	MCF10A-Er-Src	breast:	n/a	chr4:95916557-95916567 chr4:95916557-95916567 chr4:95916557-95916567
2	GATA3	chr4:95915652-95916593	MCF-7	breast:	n/a	chr4:95916106-95916114
3	FOS	chr4:95916390-95916747	MCF10A-Er-Src	breast:	n/a	chr4:95916557-95916567 chr4:95916557-95916567 chr4:95916557-95916567
4	FOS	chr4:95916426-95916741	MCF10A-Er-Src	breast:	n/a	chr4:95916557-95916567 chr4:95916557-95916567 chr4:95916557-95916567

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1023800	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1023801	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1023802	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1023803	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1023804	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11097454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160695	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12507710	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13113714	0.80[ASN][1000 genomes]
rs13128586	0.92[ASN][1000 genomes]
rs13129054	0.92[ASN][1000 genomes]
rs13129062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145631	0.90[ASN][1000 genomes]
rs1318972	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1347346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1434546	0.92[ASN][1000 genomes]
rs1434548	0.88[ASN][1000 genomes]
rs1444920	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444923	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1444926	0.96[ASN][1000 genomes]
rs1469336	0.88[ASN][1000 genomes]
rs1470409	0.96[ASN][1000 genomes]
rs1530459	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1545326	0.92[ASN][1000 genomes]
rs1545327	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1545329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560909	0.84[ASN][1000 genomes]
rs1821451	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1822826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1834718	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1838501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044328	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2099996	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2120831	0.87[AMR][1000 genomes]
rs2120832	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2865398	0.88[ASN][1000 genomes]
rs3755874	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3775034	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4145993	0.96[ASN][1000 genomes]
rs4331783	0.96[ASN][1000 genomes]
rs4397000	0.96[ASN][1000 genomes]
rs4426786	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4450936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588466	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699825	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699826	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4699827	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699828	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532520	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6532523	0.92[ASN][1000 genomes]
rs6532524	0.87[AMR][1000 genomes]
rs6815448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816059	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6820199	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6836504	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6840826	0.96[ASN][1000 genomes]
rs6841746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843668	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6844029	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6846665	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6853845	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6855395	0.96[ASN][1000 genomes]
rs716190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665167	0.86[ASN][1000 genomes]
rs7698787	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895105	0.90[ASN][1000 genomes]
rs920911	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs920912	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs965447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs973887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996659	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9995627	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv997787	chr4:95859839-95934105	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv537190	chr4:95859839-95934105	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95912600-95916600	Weak transcription	Fetal Kidney	kidney
2	chr4:95913400-95916800	Weak transcription	Fetal Thymus	thymus
3	chr4:95915200-95916600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:95915200-95916800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:95915400-95916600	Enhancers	A549	lung
6	chr4:95915400-95916800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:95915400-95916800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:95915400-95916800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:95915400-95916800	Enhancers	Thymus	Thymus
10	chr4:95915400-95917000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:95915400-95917000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:95915600-95917000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:95915800-95916800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:95915800-95916800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:95915800-95916800	Weak transcription	HUVEC	blood vessel
16	chr4:95916000-95917000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:95916000-95917000	Enhancers	Fetal Muscle Leg	muscle
18	chr4:95916000-95917600	Enhancers	HMEC	breast
19	chr4:95916200-95917000	Weak transcription	Aorta	Aorta
20	chr4:95916400-95916600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:95916400-95916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:95916400-95917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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