Variant report

Variant	rs12711125
Chromosome Location	chr4:126304931-126304932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10012726	1.00[AMR][1000 genomes]
rs10021774	1.00[MKK][hapmap]
rs10029125	1.00[AMR][1000 genomes]
rs10857105	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs11733424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11942648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12650153	1.00[MKK][hapmap]
rs1396700	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1509288	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1509293	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1509294	0.81[AFR][1000 genomes]
rs1509295	0.81[AFR][1000 genomes]
rs1509296	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1509297	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1509298	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1509300	1.00[YRI][hapmap]
rs1509301	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1605825	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1605826	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1605827	0.81[AFR][1000 genomes]
rs2055768	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2102461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2390840	1.00[MKK][hapmap]
rs2457262	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2663253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2663258	1.00[AMR][1000 genomes]
rs2663262	1.00[AMR][1000 genomes]
rs2663284	1.00[AMR][1000 genomes]
rs2710537	1.00[AMR][1000 genomes]
rs2710565	1.00[AMR][1000 genomes]
rs2710577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710585	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710586	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2710588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470542	1.00[AMR][1000 genomes]
rs28871071	1.00[AMR][1000 genomes]
rs4834029	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4834043	1.00[LWK][hapmap]
rs6844307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7660088	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7660325	0.81[AFR][1000 genomes]
rs906793	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs906794	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs925244	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs988314	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290400-126309200	Weak transcription	HSMM	muscle
2	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
3	chr4:126291600-126305000	Weak transcription	Fetal Lung	lung
4	chr4:126296000-126311200	Weak transcription	Aorta	Aorta
5	chr4:126301000-126308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:126302600-126309000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:126303600-126305000	Enhancers	HUVEC	blood vessel
8	chr4:126303800-126308200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:126304000-126305000	Enhancers	Fetal Kidney	kidney
10	chr4:126304200-126309600	Weak transcription	Fetal Heart	heart
11	chr4:126304600-126309200	Weak transcription	Rectal Smooth Muscle	rectum

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