Variant report

Variant	rs7714974
Chromosome Location	chr5:115677389-115677390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1031363	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1035370	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1549629	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1567336	0.84[YRI][hapmap]
rs17139218	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs17139272	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17139308	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17139323	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17139432	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17139507	0.92[EUR][1000 genomes]
rs17139559	0.94[AFR][1000 genomes]
rs17139650	0.88[AFR][1000 genomes]
rs2900096	1.00[CEU][hapmap]
rs4342363	1.00[AMR][1000 genomes]
rs4392665	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4403214	1.00[CEU][hapmap]
rs58594358	1.00[AMR][1000 genomes]
rs60462627	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60647033	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6861593	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs6863773	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6872204	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs6897052	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7700792	0.94[AFR][1000 genomes]
rs7701626	1.00[CEU][hapmap]
rs7701783	1.00[AMR][1000 genomes]
rs7704900	0.81[EUR][1000 genomes]
rs7706895	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7708270	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7728830	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7729217	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7737283	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
2	chr5:115666800-115683600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:115670800-115679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:115670800-115679600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:115672200-115683400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:115675800-115679200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr5:115676400-115677800	Enhancers	GM12878-XiMat	blood
8	chr5:115677000-115679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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