Variant report

Variant	rs515129
Chromosome Location	chr6:36397474-36397475
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36391946..36393446-chr6:36395564..36398109,2	MCF-7	breast:
2	chr6:36386375..36388666-chr6:36396163..36398250,2	K562	blood:
3	chr6:36388047..36404187-chr6:36407090..36418492,47	K562	blood:
4	chr6:36393812..36400727-chr6:36401208..36405433,7	K562	blood:
5	chr6:36389876..36393968-chr6:36394401..36398329,5	MCF-7	breast:
6	chr6:36390037..36391654-chr6:36397187..36400029,2	K562	blood:
7	chr6:36395657..36401114-chr6:36407932..36413764,7	MCF-7	breast:
8	chr6:36388539..36397962-chr6:36560062..36566089,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112078	Chromatin interaction
ENSG00000112081	Chromatin interaction
ENSG00000179165	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1003250	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10440841	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10947609	0.83[ASN][1000 genomes]
rs12209346	0.90[ASN][1000 genomes]
rs12214285	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12215889	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570368	0.87[ASN][1000 genomes]
rs1742757	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1744654	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752478	0.82[ASN][1000 genomes]
rs3798471	0.82[ASN][1000 genomes]
rs4140593	0.86[ASN][1000 genomes]
rs4711450	0.91[ASN][1000 genomes]
rs4711452	0.86[ASN][1000 genomes]
rs4711453	0.87[ASN][1000 genomes]
rs515186	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs517890	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs522179	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs544267	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546272	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs546353	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547026	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs547966	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566742	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57389119	0.87[ASN][1000 genomes]
rs584196	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584418	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59440875	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs595954	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597153	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs600192	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs609067	0.84[ASN][1000 genomes]
rs614028	0.87[ASN][1000 genomes]
rs619011	0.86[ASN][1000 genomes]
rs621796	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs628213	0.83[ASN][1000 genomes]
rs628314	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629297	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs629560	0.83[ASN][1000 genomes]
rs629721	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs632943	0.88[ASN][1000 genomes]
rs6457918	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659726	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs664370	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6923993	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73411054	0.87[ASN][1000 genomes]
rs7744363	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs853881	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs853882	0.91[ASN][1000 genomes]
rs860513	0.82[ASN][1000 genomes]
rs863815	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9357214	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9470274	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470278	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9470285	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9470309	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885806	chr6:36349890-36621178	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs515129	ETV7	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36391800-36397600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:36392000-36398800	Weak transcription	Osteobl	bone
3	chr6:36392000-36399200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:36392000-36400000	Weak transcription	Fetal Heart	heart
5	chr6:36392000-36404200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:36393800-36399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:36394200-36399600	Weak transcription	NHEK	skin
8	chr6:36394200-36399800	Weak transcription	HMEC	breast
9	chr6:36395800-36398000	Weak transcription	HepG2	liver
10	chr6:36396000-36397800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:36396000-36398200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:36396000-36398200	Weak transcription	HSMMtube	muscle
13	chr6:36396000-36399400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:36396000-36399400	Weak transcription	HSMM	muscle
15	chr6:36396000-36399600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:36396000-36399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:36396000-36400000	Weak transcription	A549	lung
18	chr6:36396200-36397800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:36396400-36398000	Weak transcription	K562	blood
20	chr6:36397000-36397800	Weak transcription	Placenta	Placenta
21	chr6:36397200-36399000	Weak transcription	Hela-S3	cervix

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