Variant report

Variant	rs951374
Chromosome Location	chr15:39988353-39988354
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39980861..39985158-chr15:39988045..39992700,5	K562	blood:
2	chr15:39987378..39989028-chr15:39993423..39995543,2	K562	blood:
3	chr15:39976358..39978991-chr15:39987825..39990232,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16952186	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16969621	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16969789	0.89[AMR][1000 genomes]
rs4923838	0.91[ASN][1000 genomes]
rs4924379	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4924381	0.84[AMR][1000 genomes]
rs4924383	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59180773	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs59434895	0.90[AMR][1000 genomes]
rs60431166	0.90[AMR][1000 genomes]
rs61620785	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61695850	0.90[AMR][1000 genomes]
rs7173020	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72727050	0.85[ASN][1000 genomes]
rs8024166	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8032864	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8034520	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8034550	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8035291	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035986	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39977200-39990600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:39983000-39989800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:39983200-39990800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:39985600-39989400	Weak transcription	Fetal Muscle Leg	muscle
5	chr15:39985600-39996600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:39985800-39988800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:39985800-39992000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:39985800-39992200	Weak transcription	Fetal Lung	lung
9	chr15:39985800-39996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:39985800-39996600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:39986200-39988800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:39986800-39988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:39987200-39988400	Enhancers	K562	blood
14	chr15:39987800-39988400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:39988000-39996600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:39988200-39988400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:39988200-39990800	Weak transcription	Fetal Intestine Large	intestine

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