Variant report

Variant	rs73120206
Chromosome Location	chr1:223355705-223355706
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	chr1:223347773..223350235-chr1:223355257..223357879,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11485988	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11488551	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1640803	1.00[EUR][1000 genomes]
rs1773753	0.87[EUR][1000 genomes]
rs2430407	0.86[EUR][1000 genomes]
rs2430408	0.86[EUR][1000 genomes]
rs2430409	0.86[EUR][1000 genomes]
rs34071437	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34218350	0.86[EUR][1000 genomes]
rs35169648	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35227692	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35412940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35551279	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35644560	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35778136	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5744122	1.00[AMR][1000 genomes]
rs73118152	1.00[AMR][1000 genomes]
rs73118166	1.00[EUR][1000 genomes]
rs73118168	1.00[EUR][1000 genomes]
rs73118170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118176	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118177	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118181	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118186	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118187	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118190	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118193	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118194	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118198	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118201	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118202	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120203	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120204	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120207	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120209	0.81[AFR][1000 genomes]
rs73120214	1.00[AMR][1000 genomes]
rs73120219	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120224	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120229	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120232	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120234	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120236	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73120250	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73120253	0.86[EUR][1000 genomes]
rs73120257	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73120261	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73120265	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73120267	0.86[EUR][1000 genomes]
rs73120269	0.86[EUR][1000 genomes]
rs73120297	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs851145	0.86[EUR][1000 genomes]
rs851148	0.86[EUR][1000 genomes]
rs851150	0.86[EUR][1000 genomes]
rs851152	0.86[EUR][1000 genomes]
rs851154	0.86[EUR][1000 genomes]
rs851155	0.86[EUR][1000 genomes]
rs851158	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
3	chr1:223350000-223355800	Enhancers	Fetal Thymus	thymus
4	chr1:223352800-223358600	Enhancers	Primary T cells from cord blood	blood
5	chr1:223353000-223362000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:223353200-223356200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:223353800-223357200	Enhancers	HMEC	breast
8	chr1:223354400-223357200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:223354400-223357600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:223355000-223356400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:223355000-223356400	Weak transcription	NHDF-Ad	bronchial
12	chr1:223355000-223356600	Weak transcription	NHEK	skin
13	chr1:223355200-223356600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:223355400-223356800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:223355400-223357600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:223355600-223358000	Weak transcription	Stomach Mucosa	stomach
17	chr1:223355600-223358400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:223355600-223358600	Weak transcription	Esophagus	oesophagus

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