Variant report

Variant	rs74153319
Chromosome Location	chr1:242244982-242244983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242242880..242245765-chr1:242247540..242249469,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1519903	1.00[AMR][1000 genomes]
rs1810357	1.00[AMR][1000 genomes]
rs2139471	1.00[AMR][1000 genomes]
rs2139472	1.00[AMR][1000 genomes]
rs2176765	1.00[AMR][1000 genomes]
rs2176766	1.00[AMR][1000 genomes]
rs4554709	1.00[AMR][1000 genomes]
rs56098544	1.00[AMR][1000 genomes]
rs56313862	1.00[AMR][1000 genomes]
rs56654625	1.00[AMR][1000 genomes]
rs57210464	1.00[AMR][1000 genomes]
rs60423113	1.00[AMR][1000 genomes]
rs6429330	1.00[AMR][1000 genomes]
rs6659309	1.00[AMR][1000 genomes]
rs6668482	1.00[AMR][1000 genomes]
rs6678852	1.00[AMR][1000 genomes]
rs6690719	1.00[AMR][1000 genomes]
rs6695174	1.00[AMR][1000 genomes]
rs74150804	1.00[AMR][1000 genomes]
rs74150805	1.00[AMR][1000 genomes]
rs74150806	1.00[AMR][1000 genomes]
rs74150808	1.00[AMR][1000 genomes]
rs74150815	1.00[AMR][1000 genomes]
rs74150817	1.00[AMR][1000 genomes]
rs74150825	1.00[AMR][1000 genomes]
rs74150828	1.00[AMR][1000 genomes]
rs74150835	1.00[AMR][1000 genomes]
rs74153339	1.00[AMR][1000 genomes]
rs74153345	1.00[AMR][1000 genomes]
rs74153346	1.00[AMR][1000 genomes]
rs74153352	1.00[AMR][1000 genomes]
rs74153361	1.00[AMR][1000 genomes]
rs7537433	1.00[AMR][1000 genomes]
rs7543347	1.00[AMR][1000 genomes]
rs908968	1.00[AMR][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	nsv528016	chr1:242223399-242451350	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242244000-242245400	Enhancers	HSMM	muscle
2	chr1:242244400-242245400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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