Variant report

Variant	rs10993276
Chromosome Location	chr9:97407189-97407190
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	chr9:97406984..97409530-chr9:97419873..97421419,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10761347	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10761348	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10993267	0.85[CEU][hapmap]
rs10993271	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1410972	0.85[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28402381	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3739747	0.82[CEU][hapmap]
rs3780554	0.82[CEU][hapmap]
rs3780555	0.82[CEU][hapmap]
rs4129220	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744360	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4744363	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6479561	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7025121	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7031924	0.82[CEU][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7041301	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7041595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
rs10993276	IPPK	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97402200-97410400	Weak transcription	Esophagus	oesophagus
2	chr9:97402400-97420000	Weak transcription	Right Atrium	heart
3	chr9:97402600-97411000	Weak transcription	Gastric	stomach
4	chr9:97402600-97415400	Weak transcription	Spleen	Spleen
5	chr9:97402800-97411600	Weak transcription	Primary B cells from cord blood	blood
6	chr9:97403000-97410600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:97404000-97408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:97405000-97410400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:97405200-97411200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:97405400-97407200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr9:97405600-97407200	Bivalent Enhancer	HepG2	liver
12	chr9:97405600-97407600	Enhancers	Stomach Mucosa	stomach
13	chr9:97405800-97410400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:97405800-97418400	Weak transcription	Fetal Stomach	stomach
15	chr9:97406000-97407200	Enhancers	Hela-S3	cervix
16	chr9:97406200-97408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:97406200-97410400	Weak transcription	Lung	lung
18	chr9:97406400-97410800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr9:97406600-97407200	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:97406800-97407200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:97406800-97407200	Enhancers	Aorta	Aorta
22	chr9:97406800-97407200	Enhancers	Fetal Intestine Small	intestine
23	chr9:97406800-97407400	Enhancers	Fetal Intestine Large	intestine
24	chr9:97406800-97407400	Enhancers	HMEC	breast
25	chr9:97406800-97407400	Enhancers	NHEK	skin
26	chr9:97406800-97407600	Enhancers	HSMM	muscle
27	chr9:97406800-97408400	Enhancers	HSMMtube	muscle
28	chr9:97406800-97409000	Enhancers	Fetal Heart	heart
29	chr9:97407000-97407200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr9:97407000-97407600	Enhancers	Left Ventricle	heart
31	chr9:97407000-97408200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr9:97407000-97410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:97407000-97410800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:97407000-97410800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:97407000-97411600	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:97407000-97411800	Weak transcription	Placenta	Placenta

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