Variant report

Variant	rs10993267
Chromosome Location	chr9:97385948-97385949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:97377917..97381579-chr9:97382484..97386312,5	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10114605	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10123016	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10123666	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10761345	0.87[EUR][1000 genomes]
rs10761347	0.85[CEU][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10761348	1.00[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs10821375	0.80[EUR][1000 genomes]
rs10993269	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap];0.80[ASN][1000 genomes]
rs10993271	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10993276	0.85[CEU][hapmap]
rs1410972	1.00[CEU][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes]
rs28402381	0.82[AFR][1000 genomes]
rs3739747	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3780554	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3780555	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4129220	0.85[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs4744360	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6479557	0.83[LWK][hapmap];0.80[YRI][hapmap]
rs7025121	0.88[AFR][1000 genomes]
rs7031924	0.96[CEU][hapmap];0.93[GIH][hapmap];0.93[TSI][hapmap];0.98[EUR][1000 genomes]
rs7041301	0.88[AFR][1000 genomes]
rs7041595	0.88[AFR][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	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv614918	chr9:97380597-97412037	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10993267	IPPK	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97371400-97401000	Weak transcription	Spleen	Spleen
2	chr9:97374600-97392600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:97374600-97393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:97381400-97389800	Weak transcription	Pancreas	Pancrea
5	chr9:97381400-97400400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:97381600-97401000	Weak transcription	Right Atrium	heart
7	chr9:97382600-97392800	Weak transcription	Lung	lung
8	chr9:97382600-97393000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:97382800-97387000	Weak transcription	Fetal Intestine Large	intestine
10	chr9:97382800-97387600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr9:97382800-97388200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:97382800-97399400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr9:97383800-97390200	Strong transcription	Fetal Intestine Small	intestine
14	chr9:97384000-97386000	Enhancers	Fetal Muscle Leg	muscle
15	chr9:97384200-97386000	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:97384400-97387200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:97384800-97387600	Weak transcription	Gastric	stomach
18	chr9:97385000-97388200	Weak transcription	Fetal Thymus	thymus
19	chr9:97385200-97387200	Weak transcription	Fetal Stomach	stomach
20	chr9:97385400-97386600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr9:97385600-97386000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:97385600-97386200	Enhancers	Stomach Mucosa	stomach
23	chr9:97385800-97386200	Flanking Active TSS	HepG2	liver
24	chr9:97385800-97386400	Genic enhancers	Liver	Liver
25	chr9:97385800-97392800	Weak transcription	Fetal Lung	lung

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