Variant report

Variant	rs4512702
Chromosome Location	chr1:91833761-91833762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10493846	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801861	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10923009	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164779	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165364	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11165744	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165778	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158437	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584478	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588502	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589490	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060327	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080491	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12094120	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978902	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978903	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083450	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119251	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445469	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56110253	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56355433	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56382425	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324415	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9701353	0.83[AMR][1000 genomes];0.96[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	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
5	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr1:91819400-91845200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:91820600-91842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:91822800-91849000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:91824800-91852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:91825000-91852600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:91825800-91839600	Weak transcription	Left Ventricle	heart
7	chr1:91826000-91839000	Weak transcription	Ovary	ovary
8	chr1:91829800-91852600	Weak transcription	Brain Germinal Matrix	brain
9	chr1:91830000-91839600	Weak transcription	Fetal Lung	lung
10	chr1:91832000-91852600	Weak transcription	Fetal Heart	heart
11	chr1:91832200-91839600	Weak transcription	Fetal Kidney	kidney
12	chr1:91832400-91839600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:91832800-91839600	Weak transcription	Pancreas	Pancrea
14	chr1:91833000-91838000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:91833000-91838000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:91833000-91839000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:91833000-91852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:91833000-91852600	Weak transcription	Fetal Stomach	stomach

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