Variant report

Variant	rs2299129
Chromosome Location	chr7:39467305-39467306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10239767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10239968	0.82[CEU][hapmap]
rs10242113	0.86[CEU][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10261831	0.85[CEU][hapmap];0.95[JPT][hapmap]
rs10262012	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268273	0.82[CEU][hapmap]
rs10269203	0.94[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155269	0.82[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs12112809	0.82[CEU][hapmap]
rs17712872	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769600	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17769607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17769624	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024101	1.00[YRI][hapmap]
rs2073540	0.82[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2073541	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2073542	0.86[CEU][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2073543	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2073544	0.82[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs2073546	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2108719	0.90[CEU][hapmap]
rs2108720	0.82[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs2159154	0.81[CEU][hapmap]
rs2190888	0.82[CEU][hapmap]
rs2190890	0.95[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2190891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2215138	0.95[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2237369	0.86[CEU][hapmap];0.95[JPT][hapmap]
rs2237370	0.82[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs2237371	0.82[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs2237373	0.86[CEU][hapmap];0.95[JPT][hapmap]
rs2237374	0.86[CEU][hapmap];0.94[JPT][hapmap]
rs2237378	0.82[CEU][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs2237380	0.82[CEU][hapmap]
rs2237382	0.82[CEU][hapmap]
rs2237383	0.82[CEU][hapmap]
rs2237389	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2237390	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2237391	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237393	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237395	0.95[CEU][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2237403	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2282917	0.86[CEU][hapmap];0.86[TSI][hapmap]
rs2282918	0.80[CEU][hapmap]
rs2299123	0.82[CEU][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2299127	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2299128	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2299130	0.86[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299133	0.95[CEU][hapmap];0.81[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2302122	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.93[MEX][hapmap];0.80[MKK][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2302123	0.82[CEU][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap]
rs2302125	1.00[ASW][hapmap];0.86[CEU][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28473216	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28627325	0.86[AFR][1000 genomes]
rs2876837	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2876838	0.86[CEU][hapmap];0.95[JPT][hapmap]
rs3819420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819423	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57998785	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6462917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740510	0.86[CEU][hapmap]
rs7459210	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7797301	0.82[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs887014	0.82[CEU][hapmap]
rs887015	0.86[CEU][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39462600-39470800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:39466600-39467600	Weak transcription	HSMM	muscle
3	chr7:39467200-39468400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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