Variant report

Variant	rs2254217
Chromosome Location	chr19:37521217-37521218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1069756	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1069757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644644	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644646	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644653	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644655	0.88[AFR][1000 genomes]
rs1644680	0.88[AFR][1000 genomes]
rs1644694	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1644709	1.00[AMR][1000 genomes]
rs1667332	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667334	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1667362	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562588	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2562590	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35624635	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477893	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs486891	1.00[AMR][1000 genomes]
rs549031	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577844	1.00[AMR][1000 genomes]
rs703528	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703529	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703534	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs703536	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7250855	1.00[AMR][1000 genomes]
rs7251397	1.00[AMR][1000 genomes]
rs7251690	1.00[AMR][1000 genomes]
rs7255103	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7255177	1.00[AMR][1000 genomes]
rs7255728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7257279	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7258653	1.00[AMR][1000 genomes]
rs7259422	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7259881	1.00[AMR][1000 genomes]
rs8102364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs826286	1.00[AMR][1000 genomes]
rs826287	1.00[AMR][1000 genomes]
rs862248	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv960832	chr19:37519841-37553181	ZNF genes & repeats Weak transcription Enhancers Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37521200-37521400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:37521200-37522400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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