Variant report

Variant	rs7571327
Chromosome Location	chr2:55945981-55945982
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55945407..55945989-chr2:56188428..56188986,2	MCF-7	breast:
2	chr2:55939884..55941673-chr2:55943999..55946003,2	K562	blood:
3	chr2:55943881..55946260-chr2:56171300..56172831,2	K562	blood:
4	chr2:55944515..55947437-chr2:56188349..56191143,2	MCF-7	breast:
5	chr2:55945011..55946407-chr2:56188187..56189117,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11125590	0.80[AMR][1000 genomes]
rs12616629	0.95[ASN][1000 genomes]
rs2868428	0.93[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4452190	0.89[ASN][1000 genomes]
rs6748165	0.97[ASN][1000 genomes]
rs7589673	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs782607	0.88[ASN][1000 genomes]
rs9677174	0.81[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	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7571327	PNPT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55940800-55950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:55941800-55948200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:55943200-55948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:55945200-55946800	Enhancers	Fetal Intestine Small	intestine
5	chr2:55945600-55946000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:55945600-55946000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:55945600-55946000	Enhancers	A549	lung
8	chr2:55945600-55946000	Enhancers	HSMM	muscle
9	chr2:55945600-55946200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:55945600-55946200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:55945600-55946400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:55945600-55946400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:55945800-55946000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:55945800-55946000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:55945800-55946000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:55945800-55946000	Enhancers	Brain Anterior Caudate	brain
17	chr2:55945800-55946000	Enhancers	Osteobl	bone
18	chr2:55945800-55946200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:55945800-55946200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:55945800-55946400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:55945800-55946400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:55945800-55946400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:55945800-55946400	Enhancers	Fetal Intestine Large	intestine

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