Variant report

Variant	rs7002058
Chromosome Location	chr8:95873993-95873994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95834884..95837235-chr8:95872737..95874453,2	MCF-7	breast:
2	chr8:95866505..95869055-chr8:95873345..95875262,2	MCF-7	breast:
3	chr8:95873342..95875592-chr8:95877936..95879771,2	K562	blood:
4	chr8:95873342..95877174-chr8:95877936..95881669,4	K562	blood:

Variant related genes	Relation type
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10096090	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10100651	0.95[ASN][1000 genomes]
rs10112232	0.91[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10441538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956929	0.83[CHB][hapmap]
rs1129152	0.92[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11996455	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155666	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545815	0.81[ASN][1000 genomes]
rs12550765	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12679044	1.00[CEU][hapmap];0.85[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13271375	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13271644	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2956216	0.83[CHB][hapmap]
rs3779789	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4073755	0.80[ASN][1000 genomes]
rs4075835	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4500055	0.95[CEU][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734285	0.91[ASN][1000 genomes]
rs4735328	0.83[CHB][hapmap]
rs550564	0.83[CHB][hapmap]
rs551270	0.83[CHB][hapmap]
rs6471497	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs6471499	0.83[CHB][hapmap]
rs6471500	0.83[CHB][hapmap]
rs6471504	0.92[CHB][hapmap];0.84[JPT][hapmap]
rs683832	0.83[CHB][hapmap]
rs6987256	0.83[CHB][hapmap]
rs6991067	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004862	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7005317	0.83[CHB][hapmap]
rs713113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817862	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896854	0.82[CHB][hapmap]
rs9643349	0.81[ASN][1000 genomes]
rs9650133	0.88[EUR][1000 genomes];0.87[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7002058	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95836800-95874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:95838800-95876000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:95847400-95890800	Weak transcription	Stomach Mucosa	stomach
8	chr8:95851600-95874200	Weak transcription	Pancreas	Pancrea
9	chr8:95855600-95874200	Strong transcription	Fetal Thymus	thymus
10	chr8:95861000-95881400	Strong transcription	GM12878-XiMat	blood
11	chr8:95861400-95874000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:95861400-95874200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:95863200-95883000	Weak transcription	Small Intestine	intestine
14	chr8:95864000-95875800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:95864200-95884800	Strong transcription	Fetal Stomach	stomach
16	chr8:95864800-95874600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:95868600-95874600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:95869200-95874400	Weak transcription	HUVEC	blood vessel
19	chr8:95870000-95874000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:95870000-95874000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:95870000-95875400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:95870000-95885200	Weak transcription	Brain Substantia Nigra	brain
23	chr8:95870000-95889800	Weak transcription	Esophagus	oesophagus
24	chr8:95870200-95874600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95870200-95877400	Weak transcription	NHEK	skin
26	chr8:95870200-95878600	Weak transcription	Spleen	Spleen
27	chr8:95870200-95885000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:95870200-95885000	Weak transcription	Psoas Muscle	Psoas
29	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:95870400-95877400	Weak transcription	HepG2	liver
31	chr8:95870600-95874400	Weak transcription	NH-A	brain
32	chr8:95870600-95874600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:95870600-95878000	Weak transcription	NHDF-Ad	bronchial
34	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:95871000-95875200	Weak transcription	Colonic Mucosa	Colon
36	chr8:95871000-95886200	Weak transcription	Fetal Brain Male	brain
37	chr8:95871400-95874600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr8:95871400-95874600	Weak transcription	Right Ventricle	heart
39	chr8:95871400-95875200	Weak transcription	Lung	lung
40	chr8:95871400-95889600	Weak transcription	NHLF	lung
41	chr8:95871600-95874000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:95871600-95874600	Weak transcription	Gastric	stomach
43	chr8:95871600-95874600	Weak transcription	K562	blood
44	chr8:95871600-95874800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:95871600-95882800	Weak transcription	Aorta	Aorta
46	chr8:95871800-95874200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:95871800-95874400	Weak transcription	Fetal Brain Female	brain
48	chr8:95871800-95877600	Weak transcription	Ovary	ovary
49	chr8:95872000-95874000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:95872200-95874000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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