Variant report

Variant	rs2579551
Chromosome Location	chr2:96738585-96738586
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96737205..96741391-chr2:96751630..96755146,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs17119615	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs2161066	1.00[AFR][1000 genomes]
rs2315667	0.84[AFR][1000 genomes]
rs2692938	0.95[ASN][1000 genomes]
rs56088823	0.81[ASN][1000 genomes]
rs61624166	0.81[ASN][1000 genomes]
rs6576968	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs997547	1.00[LWK][hapmap];1.00[YRI][hapmap]

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	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2579551	TMEM127	cis	cerebellum	SCAN
rs2579551	ADRA2B	cis	Artery Aorta	GTEx
rs2579551	AC008268.2	cis	Adipose Subcutaneous	GTEx
rs2579551	MGAT4A	cis	parietal	SCAN
rs2579551	MAL	cis	parietal	SCAN
rs2579551	AC008268.2	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96734200-96749400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:96734400-96738600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:96734400-96758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:96735800-96738600	Enhancers	HSMM	muscle
5	chr2:96735800-96738800	Enhancers	Brain Hippocampus Middle	brain
6	chr2:96735800-96739000	Enhancers	Brain Anterior Caudate	brain
7	chr2:96735800-96739200	Enhancers	HSMMtube	muscle
8	chr2:96735800-96740200	Enhancers	Fetal Muscle Trunk	muscle
9	chr2:96735800-96740400	Enhancers	Fetal Muscle Leg	muscle
10	chr2:96736000-96738600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:96736600-96738600	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:96736600-96739000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:96736800-96738600	Enhancers	Brain Substantia Nigra	brain
14	chr2:96737400-96738600	Enhancers	Fetal Stomach	stomach
15	chr2:96737800-96739400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:96737800-96740400	Enhancers	Placenta	Placenta
17	chr2:96738000-96739400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:96738000-96740000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:96738200-96738800	Enhancers	Brain Angular Gyrus	brain
20	chr2:96738200-96738800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr2:96738400-96739600	Enhancers	Brain Germinal Matrix	brain

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