Variant report

Variant	rs2065061
Chromosome Location	chr22:27971941-27971942
allele	C/T
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:25)

rs_ID	r²[population]
rs10427806	1.00[EUR][1000 genomes]
rs12159414	1.00[EUR][1000 genomes]
rs12165696	1.00[EUR][1000 genomes]
rs137145	1.00[EUR][1000 genomes]
rs1547072	0.93[ASW][hapmap];0.86[LWK][hapmap]
rs16984534	1.00[EUR][1000 genomes]
rs16984627	1.00[EUR][1000 genomes]
rs16984638	1.00[EUR][1000 genomes]
rs2008329	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]
rs7290827	1.00[MEX][hapmap]
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	chr22:27967200-27973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:27967800-27972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:27969600-27972200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
5	chr22:27970000-27972200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr22:27970000-27972400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:27970000-27973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:27970000-27975800	Enhancers	Fetal Muscle Trunk	muscle
9	chr22:27970200-27972600	Weak transcription	Fetal Brain Female	brain
10	chr22:27970200-27979600	Weak transcription	Fetal Intestine Small	intestine
11	chr22:27970400-27972000	Weak transcription	Fetal Kidney	kidney
12	chr22:27970400-27973400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr22:27970400-27973400	Weak transcription	Fetal Thymus	thymus
14	chr22:27970600-27974000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr22:27970800-27972400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:27971000-27980400	Enhancers	Fetal Muscle Leg	muscle
17	chr22:27971200-27972200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:27971200-27973600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr22:27971400-27972200	Enhancers	Primary hematopoietic stem cells	blood
20	chr22:27971600-27972600	Enhancers	NHEK	skin
21	chr22:27971600-27973000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:27971600-27973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:27971600-27973600	Enhancers	Fetal Brain Male	brain
24	chr22:27971600-27974000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:27971600-27974000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:27971800-27972600	Enhancers	Fetal Lung	lung
27	chr22:27971800-27973200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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