Variant report

Variant	rs56085338
Chromosome Location	chr2:182068040-182068041
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182067091..182069385-chr2:182080584..182082731,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11678840	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11684463	0.97[ASN][1000 genomes]
rs11692430	0.81[AMR][1000 genomes]
rs11692625	0.86[AMR][1000 genomes]
rs11693055	0.83[AMR][1000 genomes]
rs13002424	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029217	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13033038	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13035276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34366526	0.98[ASN][1000 genomes]
rs34405919	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34467063	0.85[AMR][1000 genomes]
rs34700861	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34774580	0.82[AMR][1000 genomes]
rs34790351	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35110674	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35190308	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35250663	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35357451	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35598315	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35702511	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4432412	0.98[ASN][1000 genomes]
rs4514840	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56096261	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6709702	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713632	0.98[ASN][1000 genomes]
rs6716261	0.83[AMR][1000 genomes]
rs6719732	0.83[AMR][1000 genomes]
rs6724365	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6752921	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72888919	0.81[AMR][1000 genomes]
rs72890540	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7581267	0.85[AMR][1000 genomes]
rs7598010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182063400-182068800	Weak transcription	Dnd41	blood
2	chr2:182064000-182068200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr2:182064800-182068200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:182064800-182072800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:182065400-182072800	Weak transcription	Thymus	Thymus
6	chr2:182066600-182069800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:182066600-182072800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr2:182066800-182068200	Enhancers	NHDF-Ad	bronchial
9	chr2:182067000-182069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:182067000-182069400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:182067800-182068600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:182067800-182068600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:182067800-182068800	Enhancers	NH-A	brain
14	chr2:182067800-182069000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:182067800-182069000	Enhancers	HMEC	breast
16	chr2:182067800-182069000	Enhancers	NHEK	skin
17	chr2:182067800-182069000	Enhancers	Osteobl	bone
18	chr2:182068000-182068200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:182068000-182068200	Enhancers	A549	lung
20	chr2:182068000-182068400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:182068000-182068400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:182068000-182068400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:182068000-182068400	Enhancers	Hela-S3	cervix
24	chr2:182068000-182068400	Enhancers	NHLF	lung
25	chr2:182068000-182068800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:182068000-182069000	Enhancers	HSMMtube	muscle
27	chr2:182068000-182069200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:182068000-182069200	Enhancers	HSMM	muscle

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