Variant report

Variant	rs1897810
Chromosome Location	chr4:96016055-96016056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95930676..95931407-chr4:96015895..96017114,4	MCF-7	breast:
2	chr4:95678022..95682059-chr4:96013803..96017357,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138696	Chromatin interaction
ENSG00000249599	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1035810	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1036352	0.84[EUR][1000 genomes]
rs10516957	0.84[ASN][1000 genomes]
rs1158368	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1158792	0.83[AMR][1000 genomes]
rs1158793	0.83[AMR][1000 genomes]
rs13103264	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13103826	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13134042	0.87[ASN][1000 genomes]
rs13134763	0.86[ASN][1000 genomes]
rs13134993	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13152580	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1319809	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17022989	0.82[AMR][1000 genomes]
rs1816461	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1816463	0.81[AMR][1000 genomes]
rs1836260	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34355615	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4699408	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6532530	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6816834	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6822629	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs723367	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7671545	0.90[EUR][1000 genomes];0.85[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	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1897810	BMPR1B	cis	Heart Left Ventricle	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96009200-96017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:96012400-96016400	Active TSS	A549	lung
4	chr4:96012400-96016600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:96012800-96016600	Active TSS	Fetal Thymus	thymus
6	chr4:96014000-96026400	Weak transcription	Aorta	Aorta
7	chr4:96014200-96026400	Weak transcription	Psoas Muscle	Psoas
8	chr4:96014400-96021200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:96015400-96016800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:96015800-96017000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:96015800-96020200	Weak transcription	HUVEC	blood vessel
12	chr4:96016000-96016400	Enhancers	Dnd41	blood
13	chr4:96016000-96025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:96016000-96060600	Weak transcription	Thymus	Thymus

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