Variant report

Variant	rs522606
Chromosome Location	chr1:160737568-160737569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16832344	0.90[EUR][1000 genomes]
rs16832349	0.90[EUR][1000 genomes]
rs16832357	0.90[EUR][1000 genomes]
rs2176874	0.90[EUR][1000 genomes]
rs492484	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs497896	0.90[EUR][1000 genomes]
rs522112	0.90[AMR][1000 genomes]
rs522947	0.90[EUR][1000 genomes]
rs524276	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526030	0.90[EUR][1000 genomes]
rs527342	0.90[EUR][1000 genomes]
rs529346	0.83[EUR][1000 genomes]
rs555421	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:160736400-160737600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr1:160736400-160737600	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr1:160736400-160737600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr1:160736400-160737600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:160736400-160737600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:160736400-160737600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:160736400-160737600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:160736400-160737600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:160736400-160737800	Enhancers	Primary T cells from cord blood	blood
10	chr1:160736400-160737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:160736400-160737800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:160736400-160737800	Enhancers	Dnd41	blood
13	chr1:160736400-160738200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:160736600-160737600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:160736600-160737600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:160736600-160737800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:160736600-160738200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:160736600-160738400	Enhancers	Fetal Thymus	thymus
19	chr1:160736800-160737600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:160736800-160737800	Enhancers	Primary B cells from peripheral blood	blood
21	chr1:160736800-160738400	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:160736800-160740000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:160737000-160737600	Weak transcription	Colonic Mucosa	Colon
24	chr1:160737000-160737800	Enhancers	K562	blood
25	chr1:160737200-160737600	Weak transcription	Esophagus	oesophagus
26	chr1:160737200-160738200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:160737200-160738200	Enhancers	HMEC	breast
28	chr1:160737200-160738400	Flanking Active TSS	NHEK	skin
29	chr1:160737400-160737600	Enhancers	Duodenum Mucosa	Duodenum
30	chr1:160737400-160738200	Enhancers	Primary B cells from cord blood	blood
31	chr1:160737400-160738200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:160737400-160738400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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