Variant report

Variant	rs2391284
Chromosome Location	chr7:26572971-26572972
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	chr7:26570553..26573015-chr7:26573523..26576136,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0087-3	chr7:26572740-26576639	NR_022006

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1047022	1.00[CHB][hapmap];0.85[CHD][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1076284	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537002	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12700741	0.92[ASN][1000 genomes]
rs12700742	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs17153945	0.85[ASN][1000 genomes]
rs17283843	0.90[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17284017	0.90[ASW][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs3757656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4289709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4719871	1.00[ASN][1000 genomes]
rs4719872	0.92[ASN][1000 genomes]
rs4722607	0.92[ASN][1000 genomes]
rs4722609	0.82[ASN][1000 genomes]
rs6957136	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968080	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968655	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71521775	0.82[ASN][1000 genomes]
rs71521777	0.82[ASN][1000 genomes]
rs73063761	1.00[ASN][1000 genomes]
rs73063763	0.94[ASN][1000 genomes]
rs73063794	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740185	0.82[ASN][1000 genomes]
rs740186	0.82[ASN][1000 genomes]
rs740187	0.82[ASN][1000 genomes]
rs757804	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2391284	CPVL	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26570800-26574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:26571000-26578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:26571200-26574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:26572400-26573000	Enhancers	Adipose Nuclei	Adipose
5	chr7:26572400-26573000	Enhancers	Fetal Lung	lung
6	chr7:26572400-26576200	Enhancers	Fetal Kidney	kidney
7	chr7:26572600-26574200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:26572800-26574000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr7:26572800-26574200	Enhancers	Fetal Stomach	stomach

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