Variant report

Variant	rs2644148
Chromosome Location	chr1:227698833-227698834
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	chr1:227696113..227699015-chr1:227705081..227707461,4	K562	blood:
2	chr1:227696655..227700997-chr1:227705079..227707461,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10159323	0.86[LWK][hapmap];0.93[MKK][hapmap]
rs10916168	0.86[LWK][hapmap];0.93[MKK][hapmap]
rs1495844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1495854	1.00[AMR][1000 genomes]
rs1587156	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1988973	1.00[AMR][1000 genomes]
rs2029838	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs2246657	1.00[AMR][1000 genomes]
rs2453681	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644152	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2644155	1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814065	1.00[ASW][hapmap];1.00[LWK][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814076	1.00[AMR][1000 genomes]
rs2814083	1.00[AMR][1000 genomes]
rs2819495	0.93[LWK][hapmap];0.86[MKK][hapmap]
rs2819499	1.00[AMR][1000 genomes]
rs2819504	0.92[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819505	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2935148	0.86[LWK][hapmap];0.86[MKK][hapmap]
rs2935150	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2999749	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745453	1.00[AMR][1000 genomes]
rs903688	1.00[AMR][1000 genomes]
rs903696	0.93[LWK][hapmap];1.00[MKK][hapmap]
rs963297	1.00[AMR][1000 genomes]
rs976960	0.93[LWK][hapmap];1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv945337	chr1:227680551-227712483	ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227696600-227699600	Weak transcription	Right Atrium	heart

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