Variant report

Variant	rs5752541
Chromosome Location	chr22:27811651-27811652
allele	A/T
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:11)

rs_ID	r²[population]
rs11705548	0.95[EUR][1000 genomes]
rs16984522	0.95[EUR][1000 genomes]
rs56237734	0.95[EUR][1000 genomes]
rs5762126	0.95[EUR][1000 genomes]
rs5762127	0.95[EUR][1000 genomes]
rs5762128	0.95[EUR][1000 genomes]
rs5762130	0.95[EUR][1000 genomes]
rs5762131	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs5762132	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73158457	0.85[EUR][1000 genomes]
rs8184960	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27804000-27812000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:27806800-27811800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:27809000-27812000	Weak transcription	Spleen	Spleen
4	chr22:27809600-27812200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:27809800-27812000	Weak transcription	HMEC	breast
6	chr22:27809800-27812600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:27810000-27812000	Weak transcription	NHEK	skin
8	chr22:27810000-27812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr22:27810400-27812000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:27810400-27812600	Enhancers	Brain Germinal Matrix	brain
11	chr22:27810800-27813800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr22:27810800-27814000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:27810800-27814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr22:27810800-27814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:27811000-27812000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:27811000-27812000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:27811200-27812000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:27811200-27812000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr22:27811200-27812000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:27811200-27814600	Enhancers	Fetal Brain Male	brain
21	chr22:27811400-27811800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:27811600-27811800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr22:27811600-27812600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:27811600-27813800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:27811600-27813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:27811600-27813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:27811600-27814000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr22:27811600-27814200	Enhancers	Fetal Brain Female	brain

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