Variant report

Variant	rs17194431
Chromosome Location	chr8:120612627-120612628
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	chr8:120612064..120614810-chr8:120616592..120619278,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12676315	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12678907	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1992721	0.85[ASW][hapmap];0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2249015	0.85[ASW][hapmap];0.97[LWK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs2289885	0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2326304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326305	1.00[ASN][1000 genomes]
rs2326306	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2875906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3793378	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.81[MEX][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6469833	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs7012253	0.93[AFR][1000 genomes]
rs7012371	0.93[AFR][1000 genomes]
rs9297600	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17194431	TRPS1	cis	cerebellum	SCAN
rs17194431	ENPP2	cis	multi-tissue	Pritchard

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
2	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
3	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
6	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
7	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
12	chr8:120601800-120614600	Weak transcription	Osteobl	bone
13	chr8:120602000-120613400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:120602000-120614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:120603000-120613200	Strong transcription	NHDF-Ad	bronchial
17	chr8:120607000-120614000	Strong transcription	Adipose Nuclei	Adipose
18	chr8:120607800-120613000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:120607800-120626600	Weak transcription	Liver	Liver
20	chr8:120609600-120614800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:120609800-120614200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:120609800-120617400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:120609800-120623600	Weak transcription	Placenta	Placenta
24	chr8:120610000-120613600	Weak transcription	Brain Substantia Nigra	brain
25	chr8:120610000-120614200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:120610000-120614800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:120610000-120614800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:120610000-120614800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:120610000-120614800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:120610000-120615000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:120610000-120618400	Weak transcription	Brain Angular Gyrus	brain
32	chr8:120610000-120621200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:120610200-120613600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:120610200-120614800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr8:120610200-120614800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:120610200-120614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:120611000-120635400	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:120611200-120613800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:120611600-120614600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:120611800-120612800	Weak transcription	Fetal Lung	lung
41	chr8:120611800-120614000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr8:120611800-120614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:120612400-120613200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:120612400-120613600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:120612400-120615400	Enhancers	Primary monocytes fromperipheralblood	blood

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