Variant report

Variant	rs11590053
Chromosome Location	chr1:222007187-222007188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11577677	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010889	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010850	0.86[EUR][1000 genomes]
rs4418610	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4528124	0.82[JPT][hapmap]
rs4551601	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639769	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825191	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825193	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825195	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514382	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519761	0.82[JPT][hapmap]
rs7544656	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441877	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441974	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441979	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:222000000-222010200	Enhancers	HMEC	breast
3	chr1:222000600-222019000	Weak transcription	Lung	lung
4	chr1:222000800-222008000	Weak transcription	Psoas Muscle	Psoas
5	chr1:222000800-222009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:222000800-222011000	Weak transcription	Thymus	Thymus
7	chr1:222001200-222011000	Weak transcription	Fetal Thymus	thymus
8	chr1:222001400-222008600	Enhancers	NHEK	skin
9	chr1:222001800-222009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:222002400-222008400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:222003000-222008000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:222003200-222007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:222003200-222008000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:222003400-222009200	Weak transcription	GM12878-XiMat	blood
15	chr1:222003600-222009800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:222004200-222008400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:222004200-222011000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:222004200-222012800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:222004400-222011000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:222004600-222011200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:222004800-222008600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:222004800-222009600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:222005200-222007600	Enhancers	HUVEC	blood vessel
24	chr1:222005600-222009400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:222005800-222007400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:222005800-222019000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:222006200-222012600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:222006400-222008000	Weak transcription	Fetal Lung	lung
29	chr1:222006400-222011400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:222006800-222008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:222006800-222012600	Weak transcription	Esophagus	oesophagus
32	chr1:222007000-222010600	Enhancers	Hela-S3	cervix

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