Variant report

Variant	rs4722590
Chromosome Location	chr7:26354882-26354883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26353571..26356318-chr7:26357830..26359410,2	K562	blood:
2	chr7:26343995..26346313-chr7:26352554..26355349,2	K562	blood:
3	chr7:26225325..26227141-chr7:26354018..26356821,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10464319	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10499574	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11525780	0.82[CEU][hapmap]
rs11973583	0.81[CEU][hapmap]
rs13222190	0.85[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs13223339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227895	0.83[ASN][1000 genomes]
rs13229994	0.83[ASN][1000 genomes]
rs13238680	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243412	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153429	0.82[CEU][hapmap];0.80[CHB][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs34272723	0.86[ASN][1000 genomes]
rs34319640	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34809078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34822078	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35255654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35424926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6953792	0.86[ASN][1000 genomes]
rs6975395	0.82[CEU][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6976271	0.80[EUR][1000 genomes]
rs9639532	0.80[CHB][hapmap]
rs9648323	0.80[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv2761313	chr7:26340970-26389772	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4722590	NUPL2	cis	cerebellum	SCAN
rs4722590	CYCS	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26335200-26386400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:26343200-26355800	Weak transcription	Fetal Intestine Small	intestine
3	chr7:26345600-26386200	Weak transcription	Thymus	Thymus
4	chr7:26345800-26375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:26346000-26368200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:26346000-26373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:26346600-26358200	Weak transcription	Liver	Liver
8	chr7:26346800-26360600	Weak transcription	Fetal Thymus	thymus
9	chr7:26347000-26356600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:26347800-26358600	Weak transcription	Adipose Nuclei	Adipose
11	chr7:26349600-26356200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:26349800-26360400	Weak transcription	HepG2	liver
13	chr7:26349800-26360600	Weak transcription	Primary T cells from cord blood	blood
14	chr7:26351400-26360600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:26351600-26356200	Weak transcription	Pancreas	Pancrea
16	chr7:26352600-26355200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:26353000-26355200	Enhancers	GM12878-XiMat	blood
18	chr7:26353400-26355400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:26353400-26356200	Enhancers	Primary B cells from peripheral blood	blood
20	chr7:26353600-26358600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:26353600-26368000	Weak transcription	Spleen	Spleen
22	chr7:26354000-26358000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:26354600-26356400	Enhancers	Primary B cells from cord blood	blood
24	chr7:26354600-26356400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:26354600-26359200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:26354800-26358200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:26354800-26358600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:26354800-26358600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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