Variant report

Variant	rs73118194
Chromosome Location	chr1:223352455-223352456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223351680..223354342-chr1:223666424..223669098,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11485988	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11488551	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1640803	0.87[EUR][1000 genomes]
rs1773753	1.00[EUR][1000 genomes]
rs2160152	0.87[EUR][1000 genomes]
rs34071437	1.00[AMR][1000 genomes]
rs35169648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35227692	1.00[AMR][1000 genomes]
rs35412940	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35551279	1.00[AMR][1000 genomes]
rs35644560	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35778136	1.00[AMR][1000 genomes]
rs5744122	1.00[AMR][1000 genomes]
rs712862	0.87[EUR][1000 genomes]
rs73118152	1.00[AMR][1000 genomes]
rs73118166	0.87[EUR][1000 genomes]
rs73118168	0.87[EUR][1000 genomes]
rs73118170	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118175	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73118176	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118177	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118181	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118198	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118201	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73118202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120204	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120206	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120207	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120219	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120222	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120229	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120234	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73120236	1.00[AMR][1000 genomes]
rs73120250	1.00[AMR][1000 genomes]
rs73120257	1.00[AMR][1000 genomes]
rs73120261	1.00[AMR][1000 genomes]
rs73120265	1.00[AMR][1000 genomes]
rs73120297	1.00[AMR][1000 genomes]
rs851140	0.87[EUR][1000 genomes]
rs851144	0.87[EUR][1000 genomes]
rs851146	0.87[EUR][1000 genomes]
rs851147	0.87[EUR][1000 genomes]
rs851151	0.87[EUR][1000 genomes]
rs851156	0.87[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223348800-223355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:223349600-223355000	Enhancers	Adipose Nuclei	Adipose
4	chr1:223349600-223355000	Enhancers	Placenta	Placenta
5	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
6	chr1:223350000-223352600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:223350000-223355800	Enhancers	Fetal Thymus	thymus
8	chr1:223350200-223355400	Enhancers	Liver	Liver
9	chr1:223350600-223353000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:223350800-223353400	Enhancers	Pancreas	Pancrea
11	chr1:223351000-223352600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:223351800-223353400	Enhancers	Esophagus	oesophagus
13	chr1:223351800-223353400	Weak transcription	Stomach Mucosa	stomach
14	chr1:223351800-223354000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:223352000-223353000	Weak transcription	Primary B cells from cord blood	blood
16	chr1:223352000-223353400	Weak transcription	Lung	lung
17	chr1:223352000-223354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:223352000-223354200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:223352200-223352600	Enhancers	Brain Substantia Nigra	brain
20	chr1:223352200-223353400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:223352200-223353800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:223352400-223352600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:223352400-223353000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:223352400-223353000	Weak transcription	Brain Hippocampus Middle	brain
25	chr1:223352400-223353200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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