Variant report

Variant	rs7589371
Chromosome Location	chr2:183758560-183758561
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183757338..183762208-chr2:183763229..183766079,6	K562	blood:
2	chr2:183758074..183761061-chr2:183762442..183764748,3	MCF-7	breast:
3	chr2:183752548..183754823-chr2:183756546..183759081,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10177372	0.90[ASN][1000 genomes]
rs10177746	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs10181110	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10803961	0.82[EUR][1000 genomes]
rs12471947	0.89[ASN][1000 genomes]
rs12693328	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1584734	0.82[EUR][1000 genomes]
rs21714	0.81[EUR][1000 genomes]
rs28796879	0.83[ASN][1000 genomes]
rs288248	0.81[EUR][1000 genomes]
rs3924496	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs409238	0.81[EUR][1000 genomes]
rs430350	0.81[EUR][1000 genomes]
rs6433991	0.82[EUR][1000 genomes]
rs6433992	0.82[EUR][1000 genomes]
rs6433993	0.83[EUR][1000 genomes]
rs6753522	0.85[ASN][1000 genomes]
rs7558974	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7577404	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7580696	0.94[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7585988	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7595276	0.87[ASN][1000 genomes]
rs7606391	0.96[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs974908	0.83[EUR][1000 genomes]
rs9973853	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7589371	FRZB	cis	Nerve Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183748200-183758600	Weak transcription	Pancreas	Pancrea
2	chr2:183748800-183758800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:183752400-183772000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:183755000-183772200	Weak transcription	HSMM	muscle
5	chr2:183756000-183758600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:183756000-183759200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:183756000-183760800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:183756600-183761600	Weak transcription	NHDF-Ad	bronchial
9	chr2:183757000-183758800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:183757000-183773800	Weak transcription	Fetal Intestine Large	intestine
11	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:183758200-183759200	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr2:183758400-183759000	ZNF genes & repeats	Left Ventricle	heart
14	chr2:183758400-183759200	Enhancers	Stomach Smooth Muscle	stomach
15	chr2:183758400-183759600	Enhancers	Aorta	Aorta
16	chr2:183758400-183760200	Enhancers	Placenta	Placenta

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