Variant report

Variant	rs6838546
Chromosome Location	chr4:96022750-96022751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:96020247..96022763-chr4:96027128..96028704,2	K562	blood:
2	chr4:96021956..96024897-chr4:96031645..96034367,2	K562	blood:
3	chr4:96020247..96024806-chr4:96024955..96029503,5	K562	blood:

Variant related genes	Relation type
ENSG00000138696	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10017056	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13103406	0.90[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13103870	0.89[CEU][hapmap]
rs13111378	0.92[CEU][hapmap];0.80[CHB][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13117435	0.81[AMR][1000 genomes]
rs13118960	0.80[AMR][1000 genomes]
rs13127255	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13128282	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs13131684	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13139927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13146146	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13152791	0.81[EUR][1000 genomes]
rs1434545	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17344975	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs17403454	0.91[CEU][hapmap]
rs17404327	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs17411701	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17411860	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1836264	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28601734	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34484245	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34745188	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34755714	0.81[EUR][1000 genomes]
rs34800104	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35653658	0.80[EUR][1000 genomes]
rs35697886	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35888953	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35966830	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4145994	0.92[CEU][hapmap];0.80[CHB][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4699831	0.87[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55888287	0.89[EUR][1000 genomes]
rs62316236	0.81[EUR][1000 genomes]
rs62316238	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62316240	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62316255	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6815593	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6815752	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6821072	0.85[CHB][hapmap]
rs6823424	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6836821	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6854585	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6855319	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7377902	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7669755	0.85[CHB][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682651	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7690400	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7694043	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs7699056	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv966206	chr4:96019551-96023007	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:96014000-96026400	Weak transcription	Aorta	Aorta
3	chr4:96014200-96026400	Weak transcription	Psoas Muscle	Psoas
4	chr4:96016000-96025600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
6	chr4:96016600-96025400	Weak transcription	Fetal Thymus	thymus
7	chr4:96016600-96054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:96020200-96022800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:96020800-96023000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:96022200-96027400	Enhancers	A549	lung
11	chr4:96022400-96023200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:96022400-96023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:96022600-96023200	Weak transcription	Dnd41	blood

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