Variant report

Variant	rs16983862
Chromosome Location	chr22:27571345-27571346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16983866	0.80[AFR][1000 genomes]
rs16983868	0.80[AFR][1000 genomes]
rs16983873	0.80[AFR][1000 genomes]
rs16986784	0.84[AFR][1000 genomes]
rs16986786	0.81[AFR][1000 genomes]
rs62223777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62223778	0.80[AFR][1000 genomes]
rs62223810	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62223812	0.80[AFR][1000 genomes]
rs62223814	0.80[AFR][1000 genomes]
rs62223815	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv459861	chr22:27549141-27575542	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv588873	chr22:27549141-27575542	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762118	chr22:27549920-27579317	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv459863	chr22:27550764-27575542	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv588874	chr22:27550764-27575542	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1063215	chr22:27557040-27581253	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27567200-27572600	Weak transcription	Ovary	ovary
2	chr22:27567800-27571400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:27569800-27573200	Enhancers	Fetal Brain Female	brain
4	chr22:27570400-27571800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr22:27570400-27571800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr22:27570400-27572600	Enhancers	Fetal Brain Male	brain
7	chr22:27570600-27571600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27570600-27571800	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr22:27570600-27572400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:27570600-27572400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:27570600-27572600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr22:27570800-27571400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:27570800-27571600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27570800-27571600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:27570800-27571800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:27570800-27571800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:27570800-27572600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr22:27570800-27574000	Weak transcription	Spleen	Spleen
19	chr22:27571000-27571400	Weak transcription	HUVEC	blood vessel
20	chr22:27571000-27571600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr22:27571000-27572200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:27571000-27579600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:27571200-27571400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
24	chr22:27571200-27571400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr22:27571200-27571400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr22:27571200-27571600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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