Variant report

Variant	rs6664325
Chromosome Location	chr1:242215240-242215241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10157604	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159085	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10737871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10754745	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10803009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10803011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1519903	0.87[AFR][1000 genomes]
rs1592224	1.00[AMR][1000 genomes]
rs1592225	1.00[AMR][1000 genomes]
rs1810357	0.94[AFR][1000 genomes]
rs1832943	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2139471	1.00[AFR][1000 genomes]
rs2139472	1.00[AFR][1000 genomes]
rs2176765	0.94[AFR][1000 genomes]
rs2176766	1.00[AFR][1000 genomes]
rs4554709	1.00[AFR][1000 genomes]
rs4658402	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6429329	1.00[AMR][1000 genomes]
rs6429330	0.81[AFR][1000 genomes]
rs6659309	0.81[AFR][1000 genomes]
rs6661349	1.00[AMR][1000 genomes]
rs6678852	0.94[AFR][1000 genomes]
rs6683254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690719	1.00[AFR][1000 genomes]
rs6691394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537433	0.87[AFR][1000 genomes]
rs7543347	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869647	chr1:242141471-242248271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv508703	chr1:242146940-242252101	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv3386659	chr1:242208979-242215777	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242215000-242215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:242215000-242215800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:242215000-242216400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:242215200-242216200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:242215200-242216400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:242215200-242216400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:242215200-242216600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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