Variant report

Variant	rs10761383
Chromosome Location	chr9:93222465-93222466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93211161..93212918-chr9:93221258..93222920,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10761373	0.86[CHB][hapmap]
rs10761380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821443	0.82[CHB][hapmap]
rs10821444	0.87[CHB][hapmap]
rs10821467	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10993468	0.87[CHB][hapmap]
rs10993469	0.87[CHB][hapmap]
rs10993499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1426507	0.81[CEU][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap]
rs1529333	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs1549508	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1549509	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1820465	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989547	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2114350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2386543	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4142937	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6479595	0.87[CHB][hapmap]
rs7022730	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7029610	0.87[CHB][hapmap];0.85[JPT][hapmap]
rs7036826	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7858582	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7870764	0.87[CHB][hapmap]

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	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv482748	chr9:93123377-93279526	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv893565	chr9:93130796-93392332	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv614853	chr9:93183404-93266508	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv614854	chr9:93209923-93266508	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv893566	chr9:93209923-93439259	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10761383	RP11-389K14.3	cis	lung	GTEx
rs10761383	SPTLC1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93206400-93222600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:93220800-93222600	Enhancers	GM12878-XiMat	blood
3	chr9:93221800-93222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:93222000-93223200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:93222200-93223600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr9:93222400-93222600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:93222400-93222800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr9:93222400-93222800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:93222400-93223000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:93222400-93223000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:93222400-93223000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:93222400-93223000	Enhancers	Duodenum Mucosa	Duodenum
13	chr9:93222400-93223000	Enhancers	Fetal Intestine Large	intestine
14	chr9:93222400-93223000	Enhancers	Fetal Intestine Small	intestine
15	chr9:93222400-93223000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr9:93222400-93223200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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