Variant report

Variant	rs11588502
Chromosome Location	chr1:91779927-91779928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801861	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923009	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164779	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165364	0.83[EUR][1000 genomes]
rs11165744	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165778	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11484907	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11484931	0.81[AMR][1000 genomes]
rs11487638	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1158437	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584478	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589490	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060327	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077518	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12077563	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12080491	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978902	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978903	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083450	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119251	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs281939	0.87[AMR][1000 genomes]
rs28445469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512702	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs483386	0.83[AMR][1000 genomes]
rs487069	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56110253	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56355433	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580070	0.83[AMR][1000 genomes]
rs584910	0.83[AMR][1000 genomes]
rs615020	0.85[AMR][1000 genomes]
rs72726264	0.83[AMR][1000 genomes]
rs72726267	0.81[AMR][1000 genomes]
rs9324415	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701353	0.86[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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91772800-91793800	Weak transcription	Left Ventricle	heart
2	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
3	chr1:91774800-91794400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:91775000-91793800	Weak transcription	Pancreas	Pancrea
5	chr1:91775200-91794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:91776600-91793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:91777000-91780400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:91777600-91781400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:91777600-91790600	Weak transcription	Fetal Brain Female	brain
10	chr1:91777600-91790600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:91777600-91790800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:91777600-91794000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:91777800-91794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:91778000-91790600	Weak transcription	Brain Germinal Matrix	brain
15	chr1:91778000-91790600	Weak transcription	Fetal Lung	lung
16	chr1:91778000-91793800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:91778000-91794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:91778000-91794000	Weak transcription	Fetal Intestine Small	intestine
19	chr1:91778200-91782400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:91778600-91790400	Weak transcription	Fetal Stomach	stomach
21	chr1:91778600-91793800	Weak transcription	Ovary	ovary
22	chr1:91779000-91784400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:91779000-91793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:91779800-91782400	Weak transcription	Fetal Brain Male	brain

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