Variant report

Variant	rs73429083
Chromosome Location	chr22:28036955-28036956
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28029275..28031835-chr22:28035425..28037037,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57183183	1.00[AMR][1000 genomes]
rs61690485	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv914956	chr22:27993597-28050390	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28028000-28037800	Enhancers	Fetal Heart	heart
2	chr22:28028800-28038400	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr22:28029400-28037200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:28033600-28037000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr22:28033600-28037400	Weak transcription	Brain Anterior Caudate	brain
6	chr22:28033600-28039200	Enhancers	Fetal Muscle Leg	muscle
7	chr22:28033800-28037000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr22:28033800-28037000	Weak transcription	HSMMtube	muscle
9	chr22:28034000-28037000	Weak transcription	Brain Substantia Nigra	brain
10	chr22:28034000-28037400	Weak transcription	Brain Angular Gyrus	brain
11	chr22:28034200-28037000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr22:28034200-28037000	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:28034400-28037200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:28034600-28037000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr22:28034800-28037600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:28035000-28037000	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28035400-28037000	Weak transcription	Fetal Intestine Small	intestine
18	chr22:28035400-28038400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:28035400-28040400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:28035400-28042000	Weak transcription	Spleen	Spleen
21	chr22:28035600-28037000	Weak transcription	Fetal Lung	lung
22	chr22:28035600-28037200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:28035600-28037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:28035600-28037400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:28035600-28037400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:28035600-28037400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr22:28035600-28037400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:28035600-28037400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:28035600-28037400	Weak transcription	Left Ventricle	heart
30	chr22:28035600-28037400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:28035600-28039000	Enhancers	Fetal Muscle Trunk	muscle
32	chr22:28035600-28046600	Weak transcription	Right Atrium	heart
33	chr22:28035800-28037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:28035800-28037000	Weak transcription	Fetal Stomach	stomach
35	chr22:28035800-28037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:28035800-28037400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:28035800-28037400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr22:28036000-28037000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:28036000-28037000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:28036000-28037200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:28036000-28037400	Weak transcription	Placenta	Placenta
42	chr22:28036000-28037400	Weak transcription	Psoas Muscle	Psoas
43	chr22:28036200-28037600	Enhancers	NHEK	skin
44	chr22:28036600-28037600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:28036800-28037200	Weak transcription	HSMM	muscle
46	chr22:28036800-28037600	Enhancers	Fetal Intestine Large	intestine
47	chr22:28036800-28038400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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