Variant report

Variant	rs574183
Chromosome Location	chr8:95973816-95973817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95972771..95975327-chr8:95979134..95982751,4	MCF-7	breast:
2	chr8:95972569..95974816-chr8:95983655..95986247,2	MCF-7	breast:
3	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1713669	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2515226	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515236	0.80[ASN][1000 genomes]
rs481887	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs509594	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs527234	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs572547	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62523081	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv818645	chr8:95967838-95974373	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs574183	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
2	chr8:95962800-95974200	Weak transcription	Gastric	stomach
3	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
4	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:95962800-95980200	Weak transcription	Ovary	ovary
7	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
9	chr8:95963000-95980400	Weak transcription	HSMM	muscle
10	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
11	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
12	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
13	chr8:95963600-95979600	Weak transcription	A549	lung
14	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:95964600-95979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:95964600-95980200	Weak transcription	Brain Substantia Nigra	brain
20	chr8:95964600-95980600	Weak transcription	Fetal Brain Female	brain
21	chr8:95964600-95992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:95964800-95977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:95964800-95980400	Weak transcription	Brain Anterior Caudate	brain
24	chr8:95964800-95981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:95966000-95986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:95966000-95993000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:95966200-95975400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:95968800-95975400	Weak transcription	Spleen	Spleen
33	chr8:95970000-95974200	Weak transcription	Right Atrium	heart
34	chr8:95970600-95976000	Weak transcription	Fetal Muscle Leg	muscle
35	chr8:95970600-96000800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:95971000-95977000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:95971000-95977800	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:95971200-95974600	Enhancers	Stomach Mucosa	stomach
39	chr8:95971400-95974400	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:95971400-95974400	Enhancers	Fetal Intestine Large	intestine
41	chr8:95971400-95986800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:95971400-95987400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:95971600-95974600	Enhancers	Primary hematopoietic stem cells	blood
44	chr8:95971600-95974800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:95971600-95976800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:95971600-95979800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:95971600-95983800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95971600-95987000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr8:95971600-95987000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr8:95971600-95987200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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