Variant report

Variant	rs60147095
Chromosome Location	chr7:48465060-48465061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10254742	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10256975	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10262407	0.85[AFR][1000 genomes]
rs10271606	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10273249	0.85[AFR][1000 genomes]
rs10273640	0.85[AFR][1000 genomes]
rs10274174	0.85[AFR][1000 genomes]
rs10499682	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10499683	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1109443	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12669930	0.92[EUR][1000 genomes]
rs12669976	0.92[EUR][1000 genomes]
rs12674031	0.92[EUR][1000 genomes]
rs12718266	0.85[AFR][1000 genomes]
rs1316821	0.92[EUR][1000 genomes]
rs13236501	0.81[AFR][1000 genomes]
rs13307295	0.85[AFR][1000 genomes]
rs1405920	0.92[EUR][1000 genomes]
rs1433506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1433509	0.85[AFR][1000 genomes]
rs1433510	0.83[AFR][1000 genomes]
rs1527840	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17132335	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17132373	0.92[EUR][1000 genomes]
rs17132376	0.92[EUR][1000 genomes]
rs17132383	0.92[EUR][1000 genomes]
rs17132388	0.92[EUR][1000 genomes]
rs17132402	0.90[EUR][1000 genomes]
rs17132417	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1865194	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1918613	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2217710	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2362307	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28454544	0.85[AFR][1000 genomes]
rs28481588	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2885484	0.90[EUR][1000 genomes]
rs55650796	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56232183	0.92[EUR][1000 genomes]
rs56945649	0.85[AFR][1000 genomes]
rs58054917	0.92[EUR][1000 genomes]
rs58553345	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60560717	0.85[AFR][1000 genomes]
rs61562434	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66501875	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66898358	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67132562	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67163301	0.92[EUR][1000 genomes]
rs67223065	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67985903	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6968069	0.92[EUR][1000 genomes]
rs6972440	0.92[EUR][1000 genomes]
rs6973231	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73107574	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7357308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7781150	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs875810	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48449400-48467800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48460000-48465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:48461600-48466200	Weak transcription	Osteobl	bone
4	chr7:48461600-48466600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:48461800-48466000	Weak transcription	NH-A	brain
6	chr7:48464600-48465200	Enhancers	HMEC	breast
7	chr7:48464600-48466400	Enhancers	NHEK	skin
8	chr7:48464600-48469200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:48464600-48470000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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