Variant report

Variant	rs2340584
Chromosome Location	chr8:95916811-95916812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95913634..95919106-chr8:95960002..95963177,4	MCF-7	breast:
2	chr8:95910895..95913798-chr8:95915630..95917632,3	K562	blood:
3	chr8:95915511..95918504-chr8:96036526..96038312,2	MCF-7	breast:
4	chr8:95907473..95909813-chr8:95916100..95917629,3	K562	blood:

Variant related genes	Relation type
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10108430	0.85[EUR][1000 genomes]
rs12546365	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12548874	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12679044	0.91[ASN][1000 genomes]
rs1320164	0.84[EUR][1000 genomes]
rs13254283	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13255935	0.84[EUR][1000 genomes]
rs13262110	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735333	0.89[EUR][1000 genomes]
rs61663478	0.86[EUR][1000 genomes]
rs6987752	0.84[EUR][1000 genomes]
rs6991067	0.81[EUR][1000 genomes]
rs7003387	0.84[EUR][1000 genomes]
rs7845219	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs896852	0.85[EUR][1000 genomes]
rs896855	0.87[EUR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2340584	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95909400-95917200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:95909400-95917600	Weak transcription	Pancreas	Pancrea
3	chr8:95909400-95918000	Weak transcription	Gastric	stomach
4	chr8:95909400-95920800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:95909400-95932600	Weak transcription	Esophagus	oesophagus
6	chr8:95909400-95939000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:95909400-95941000	Weak transcription	Ovary	ovary
8	chr8:95909400-95941200	Weak transcription	Fetal Stomach	stomach
9	chr8:95909600-95917800	Weak transcription	Stomach Mucosa	stomach
10	chr8:95909600-95920600	Weak transcription	Brain Angular Gyrus	brain
11	chr8:95909600-95937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:95909600-95938400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:95909600-95941800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:95909800-95930400	Weak transcription	Fetal Brain Female	brain
15	chr8:95909800-95940600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:95910000-95940200	Weak transcription	Thymus	Thymus
17	chr8:95910400-95917200	Weak transcription	Fetal Thymus	thymus
18	chr8:95910400-95918200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:95910800-95931600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:95910800-95940200	Weak transcription	Hela-S3	cervix
21	chr8:95913600-95930200	Weak transcription	Brain Germinal Matrix	brain
22	chr8:95913600-95932600	Weak transcription	Fetal Brain Male	brain
23	chr8:95914000-95917800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:95915400-95917800	Enhancers	Primary hematopoietic stem cells	blood
25	chr8:95916000-95918400	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr8:95916200-95917800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:95916600-95918400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:95916800-95917400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:95916800-95917400	Enhancers	Dnd41	blood
30	chr8:95916800-95917400	Enhancers	K562	blood
31	chr8:95916800-95917600	Enhancers	HUVEC	blood vessel
32	chr8:95916800-95917800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:95916800-95918000	Enhancers	A549	lung
34	chr8:95916800-95918400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr8:95916800-95918600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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