Variant report

Variant	rs1177007
Chromosome Location	chr7:147546371-147546372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10233374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233755	0.90[CHB][hapmap]
rs10246256	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1186173	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13235812	1.00[CEU][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1613285	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1861010	0.94[JPT][hapmap]
rs1922892	0.81[ASN][1000 genomes]
rs2160017	0.86[CHB][hapmap];0.83[GIH][hapmap]
rs2247042	0.81[ASN][1000 genomes]
rs2247043	0.81[ASN][1000 genomes]
rs2247137	0.81[ASN][1000 genomes]
rs2247143	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2247149	0.81[ASN][1000 genomes]
rs2373269	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2373270	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2373273	0.94[JPT][hapmap]
rs2538972	0.94[JPT][hapmap]
rs2538974	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.80[ASN][1000 genomes]
rs2538977	0.81[ASN][1000 genomes]
rs2538979	0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538983	0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538984	0.81[ASN][1000 genomes]
rs2538985	0.81[ASN][1000 genomes]
rs2538986	0.81[ASN][1000 genomes]
rs2538987	0.81[ASN][1000 genomes]
rs2538988	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538989	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538990	0.86[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538991	0.81[ASN][1000 genomes]
rs2538992	0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2538994	0.95[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2708238	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2708239	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2708240	0.86[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2708241	0.81[ASN][1000 genomes]
rs2708243	0.89[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs2708257	0.94[JPT][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs2708270	0.94[JPT][hapmap]
rs2710096	0.81[ASN][1000 genomes]
rs2710102	0.90[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap]
rs2710104	0.94[JPT][hapmap];0.81[AMR][1000 genomes]
rs2710105	0.84[CHB][hapmap];0.93[JPT][hapmap]
rs2710107	0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs2710108	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2710114	0.94[JPT][hapmap]
rs2710117	0.94[JPT][hapmap]
rs2710118	0.80[AMR][1000 genomes]
rs2710139	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2710140	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs2888536	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.90[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4140925	0.85[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs4305811	0.91[CHB][hapmap]
rs4308647	0.86[CHB][hapmap]
rs4523170	0.85[CHB][hapmap]
rs4725747	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs4726892	0.80[AFR][1000 genomes]
rs4726893	0.86[CHB][hapmap]
rs6955775	0.86[CHB][hapmap]
rs6958954	0.86[CHB][hapmap]
rs759177	0.90[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs759178	0.90[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs7794345	0.91[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs851704	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs851715	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933973	chr7:147438206-147549993	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
2	nsv889397	chr7:147471710-147585819	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv465193	chr7:147512619-147583680	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv608965	chr7:147512619-147583680	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1023913	chr7:147521075-147806318	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1026058	chr7:147521109-147783042	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv539179	chr7:147521109-147783042	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv934002	chr7:147521110-147807705	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1017610	chr7:147523752-147806427	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1177007	NT5E	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147546000-147546600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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