Variant report

Variant	rs2140621
Chromosome Location	chr7:102592510-102592511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102589644..102592537-chr7:102602943..102605917,2	K562	blood:
2	chr7:102583146..102586073-chr7:102591265..102594000,2	K562	blood:
3	chr7:102583035..102585728-chr7:102590103..102592728,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10236090	0.89[AFR][1000 genomes]
rs10240915	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs10259205	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268849	1.00[MEX][hapmap]
rs10278727	0.89[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs10808121	0.84[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs1100047	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11560367	1.00[MEX][hapmap]
rs12671524	1.00[AMR][1000 genomes]
rs13242079	1.00[MEX][hapmap]
rs1404213	1.00[MEX][hapmap]
rs1477160	1.00[MEX][hapmap]
rs1543987	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs1916990	1.00[AMR][1000 genomes]
rs1968199	1.00[MEX][hapmap]
rs1969429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2041949	1.00[MEX][hapmap]
rs2177550	0.84[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[AMR][1000 genomes]
rs2193418	1.00[MEX][hapmap]
rs28393249	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2898638	1.00[ASW][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3181009	1.00[MEX][hapmap]
rs4255065	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4576360	0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs4727558	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4727561	1.00[MEX][hapmap]
rs4729872	1.00[MEX][hapmap]
rs6465883	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465888	0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs6465890	1.00[MEX][hapmap]
rs6950177	1.00[MEX][hapmap]
rs6958533	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6962336	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6973702	1.00[MEX][hapmap]
rs6977206	1.00[MEX][hapmap]
rs7341515	0.93[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs7783856	1.00[MEX][hapmap]
rs7784337	1.00[MEX][hapmap]
rs7805950	0.84[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap]
rs7806136	1.00[MEX][hapmap];0.80[MKK][hapmap]
rs7806691	1.00[MEX][hapmap];0.86[MKK][hapmap]
rs7809075	0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs847650	0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs847653	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs847655	1.00[AMR][1000 genomes]
rs847657	0.96[AFR][1000 genomes]
rs864709	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102574600-102594400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:102590200-102594000	Strong transcription	K562	blood
3	chr7:102591000-102592800	Weak transcription	Fetal Lung	lung
4	chr7:102591000-102619400	Weak transcription	HSMM	muscle

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