Variant report

Variant	rs12618637
Chromosome Location	chr2:112899438-112899439
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112896674..112899558-chr2:113471538..113473155,2	K562	blood:
2	chr2:112893664..112896750-chr2:112899027..112902371,4	MCF-7	breast:
3	chr2:112898707..112900411-chr2:112905803..112908114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144152	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10165845	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10175143	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10178449	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10182333	0.90[ASN][1000 genomes]
rs1045300	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10779884	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10864898	0.90[ASN][1000 genomes]
rs11675437	0.84[EUR][1000 genomes]
rs4241121	0.90[ASN][1000 genomes]
rs4257409	0.90[ASN][1000 genomes]
rs4848993	0.88[ASN][1000 genomes]
rs4849007	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4849044	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707397	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730057	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731563	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7577442	0.87[ASN][1000 genomes]
rs7580507	0.90[ASN][1000 genomes]
rs7591702	0.90[ASN][1000 genomes]
rs7595574	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9308669	0.90[ASN][1000 genomes]
rs9653401	0.90[ASN][1000 genomes]
rs9653422	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12618637	FBLN7	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112896400-112934600	Weak transcription	Aorta	Aorta
2	chr2:112896800-112907000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:112898000-112907000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:112898200-112899600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:112898200-112899600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:112898200-112899800	Weak transcription	Lung	lung
7	chr2:112898200-112900800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:112898200-112906200	Weak transcription	Right Atrium	heart
9	chr2:112898200-112915000	Weak transcription	Pancreas	Pancrea
10	chr2:112898400-112900000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:112898400-112905000	Weak transcription	Osteobl	bone
12	chr2:112898400-112907400	Weak transcription	NHLF	lung
13	chr2:112898800-112902400	Weak transcription	NHDF-Ad	bronchial
14	chr2:112898800-112906200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:112899000-112906800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:112899000-112913000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:112899200-112905200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:112899200-112906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:112899200-112914000	Weak transcription	HepG2	liver
20	chr2:112899400-112900200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:112899400-112906800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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