Variant report

Variant	rs492593
Chromosome Location	chr6:23621366-23621367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1407242	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2145771	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4712770	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs500694	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs505304	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs510023	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs527469	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs527583	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs531565	0.85[EUR][1000 genomes]
rs541250	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562814	0.82[EUR][1000 genomes]
rs571515	0.90[ASN][1000 genomes]
rs574440	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576816	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv830608	chr6:23558655-23644405	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv883478	chr6:23615399-23659465	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3323771	chr6:23619198-23621746	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23620600-23622000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:23620800-23621400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:23620800-23622000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:23620800-23622000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr6:23620800-23622200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr6:23621000-23621400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:23621000-23621600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:23621000-23621600	Enhancers	Brain Hippocampus Middle	brain
9	chr6:23621000-23621600	Enhancers	Fetal Kidney	kidney
10	chr6:23621000-23621600	Enhancers	Fetal Muscle Leg	muscle
11	chr6:23621000-23621800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:23621000-23621800	Enhancers	Fetal Brain Male	brain
13	chr6:23621000-23622000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:23621000-23622000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:23621000-23622200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:23621200-23621400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr6:23621200-23621600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:23621200-23621600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:23621200-23621600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:23621200-23621600	Enhancers	Brain Substantia Nigra	brain
21	chr6:23621200-23621800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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