Variant report

Variant	rs5749404
Chromosome Location	chr22:32732169-32732170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16990228	0.93[ASN][1000 genomes]
rs2076034	0.95[ASN][1000 genomes]
rs2076040	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55844652	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56188006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749405	0.97[ASN][1000 genomes]
rs5753985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753986	0.99[ASN][1000 genomes]
rs5753989	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5753992	0.97[ASN][1000 genomes]
rs5753995	0.84[ASN][1000 genomes]
rs5754000	0.83[ASN][1000 genomes]
rs5998425	0.99[ASN][1000 genomes]
rs61693297	0.96[ASN][1000 genomes]
rs62239307	0.99[ASN][1000 genomes]
rs62239312	0.95[ASN][1000 genomes]
rs7285060	0.87[AFR][1000 genomes]
rs7287174	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7290125	0.93[ASN][1000 genomes]
rs7292007	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs732884	0.93[ASN][1000 genomes]
rs8139945	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active 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	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32728400-32732200	Weak transcription	HUVEC	blood vessel
2	chr22:32729400-32732600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:32730200-32733200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr22:32730400-32732200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:32730800-32732200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr22:32730800-32734600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:32731000-32733200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr22:32731000-32737200	Weak transcription	Right Atrium	heart
9	chr22:32731000-32737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:32731200-32732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr22:32731200-32734600	Weak transcription	Left Ventricle	heart
12	chr22:32731400-32733400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr22:32731600-32733200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:32731800-32732800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:32731800-32732800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr22:32731800-32732800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr22:32731800-32733200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr22:32731800-32733600	Enhancers	Fetal Muscle Leg	muscle
19	chr22:32731800-32734000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:32731800-32734400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:32732000-32732200	Enhancers	Brain Hippocampus Middle	brain
22	chr22:32732000-32732800	Enhancers	Brain Germinal Matrix	brain
23	chr22:32732000-32733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:32732000-32733000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr22:32732000-32733200	Enhancers	Fetal Brain Female	brain
26	chr22:32732000-32733800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:32732000-32733800	Enhancers	Brain Anterior Caudate	brain

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