Variant report

Variant	rs10873203
Chromosome Location	chr14:67974505-67974506
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	chr14:67973423..67975623-chr14:67977106..67978835,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10133655	0.99[ASN][1000 genomes]
rs10134226	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10144299	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158672	0.83[AFR][1000 genomes]
rs11622515	0.89[ASN][1000 genomes]
rs11622608	0.92[ASN][1000 genomes]
rs11626771	0.88[ASN][1000 genomes]
rs11626910	0.92[ASN][1000 genomes]
rs11850406	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12881607	0.81[ASN][1000 genomes]
rs17093620	0.99[ASN][1000 genomes]
rs1885038	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1885040	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2004555	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28373080	0.88[AFR][1000 genomes]
rs2874093	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3818242	0.92[ASN][1000 genomes]
rs61988189	0.92[ASN][1000 genomes]
rs61988190	0.99[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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10873203	RAB24	cis	Frontal Cortex	GTEx
rs10873203	EIF2S1	cis	cerebellum	SCAN
rs10873203	MTHFD1	cis	cerebellum	SCAN
rs10873203	KCNH5	cis	cerebellum	SCAN
rs10873203	HSPA2	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67935000-67977200	Weak transcription	Brain Angular Gyrus	brain
2	chr14:67956000-67978000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:67956200-67981000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr14:67959400-67979800	Weak transcription	Fetal Brain Male	brain
5	chr14:67961400-67979400	Weak transcription	Primary B cells from cord blood	blood
6	chr14:67961400-67979400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:67961600-67976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:67961600-67979400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr14:67961800-67976400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:67962800-67979200	Weak transcription	Pancreas	Pancrea
11	chr14:67964200-67980800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:67965000-67979400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:67965000-67980200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:67965200-67980200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:67965400-67980800	Weak transcription	Primary T cells from cord blood	blood
16	chr14:67968800-67980400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr14:67970200-67980200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:67970200-67980800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:67970400-67974800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:67970400-67980200	Weak transcription	Placenta	Placenta
21	chr14:67971000-67980600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:67971200-67977000	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:67972800-67974800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:67973000-67974600	Enhancers	NHEK	skin
25	chr14:67973000-67974800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:67973200-67977000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:67973400-67976800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:67974000-67977000	Weak transcription	HMEC	breast
29	chr14:67974200-67976400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:67974400-67974600	Genic enhancers	Fetal Intestine Small	intestine
31	chr14:67974400-67975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:67974400-67975800	Enhancers	Fetal Intestine Large	intestine
33	chr14:67974400-67976600	Enhancers	Primary monocytes fromperipheralblood	blood

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