Variant report

Variant	rs12632454
Chromosome Location	chr3:139741147-139741148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10433430	0.88[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10935364	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12636795	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs13080273	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs1426024	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap]
rs6769310	0.85[YRI][hapmap]
rs7619667	0.81[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.83[ASN][1000 genomes]
rs768336	0.93[ASN][1000 genomes]
rs768337	0.95[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.93[ASN][1000 genomes]
rs9828795	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9836684	0.93[ASN][1000 genomes]
rs9844385	0.88[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.84[MEX][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[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	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
3	nsv916193	chr3:139187767-139821526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv530058	chr3:139243971-139814419	Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv998423	chr3:139526446-139947336	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv829738	chr3:139670836-139851945	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv877545	chr3:139738645-139821310	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12632454	MRAS	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139714400-139741200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139732400-139741200	Weak transcription	Fetal Brain Female	brain
3	chr3:139732400-139742600	Weak transcription	HSMMtube	muscle
4	chr3:139736000-139741800	Weak transcription	Spleen	Spleen
5	chr3:139738600-139743600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:139738800-139742000	Weak transcription	Aorta	Aorta
7	chr3:139738800-139743200	Enhancers	Brain Substantia Nigra	brain
8	chr3:139739200-139743600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:139739600-139754400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:139739800-139741200	Weak transcription	Brain Germinal Matrix	brain
11	chr3:139739800-139743600	Enhancers	Brain Cingulate Gyrus	brain
12	chr3:139739800-139743600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:139740000-139743400	Enhancers	Stomach Smooth Muscle	stomach
14	chr3:139740200-139743600	Enhancers	Brain Angular Gyrus	brain
15	chr3:139740400-139743400	Enhancers	Brain Anterior Caudate	brain
16	chr3:139740600-139743600	Enhancers	Colon Smooth Muscle	Colon
17	chr3:139740800-139741200	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:139740800-139743000	Enhancers	Fetal Brain Male	brain
19	chr3:139740800-139743600	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:139740800-139744800	Enhancers	Ovary	ovary
21	chr3:139741000-139741400	Enhancers	Left Ventricle	heart
22	chr3:139741000-139741800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:139741000-139741800	Enhancers	Right Atrium	heart
24	chr3:139741000-139742800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr3:139741000-139743200	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:139741000-139743200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:139741000-139743400	Enhancers	Adipose Nuclei	Adipose

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