Variant report

Variant	rs137145
Chromosome Location	chr22:27933155-27933156
allele	C/T
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]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs16984497	1.00[EUR][1000 genomes]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	1.00[EUR][1000 genomes]
rs2065061	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs5752574	1.00[EUR][1000 genomes]
rs5762216	1.00[EUR][1000 genomes]
rs5762219	1.00[EUR][1000 genomes]
rs5762223	1.00[EUR][1000 genomes]
rs5997259	1.00[EUR][1000 genomes]
rs6005462	1.00[EUR][1000 genomes]
rs6005466	1.00[EUR][1000 genomes]
rs6005472	1.00[EUR][1000 genomes]
rs6005473	1.00[EUR][1000 genomes]
rs6005474	1.00[EUR][1000 genomes]
rs6005475	1.00[EUR][1000 genomes]
rs6005478	1.00[EUR][1000 genomes]
rs60298679	1.00[EUR][1000 genomes]
rs73417186	1.00[EUR][1000 genomes]
rs738564	1.00[EUR][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	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	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr22:27923400-27933600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27929000-27933400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:27929800-27933400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:27930000-27933400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:27930000-27933400	Weak transcription	Ovary	ovary
6	chr22:27931200-27933400	Weak transcription	Fetal Intestine Large	intestine
7	chr22:27931200-27934600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:27931200-27940800	Weak transcription	Right Atrium	heart
9	chr22:27932200-27933400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:27932200-27933600	Enhancers	Fetal Stomach	stomach
11	chr22:27932200-27934600	Enhancers	Adipose Nuclei	Adipose
12	chr22:27932600-27934200	Enhancers	Fetal Lung	lung
13	chr22:27932600-27935000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:27932600-27938200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:27932800-27933600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:27932800-27934000	Enhancers	Fetal Brain Male	brain
17	chr22:27932800-27934000	Enhancers	Fetal Thymus	thymus
18	chr22:27932800-27934200	Enhancers	Fetal Kidney	kidney
19	chr22:27932800-27934200	Enhancers	Placenta	Placenta
20	chr22:27932800-27934400	Enhancers	Fetal Muscle Trunk	muscle
21	chr22:27932800-27936400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr22:27933000-27933200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr22:27933000-27933800	Enhancers	HUVEC	blood vessel
24	chr22:27933000-27934200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr22:27933000-27934600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:27933000-27934800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:27933000-27935000	Enhancers	Brain Germinal Matrix	brain

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