Variant report

Variant	rs695629
Chromosome Location	chr22:28834769-28834770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:
2	chr22:28828789..28831593-chr22:28834204..28836919,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs134527	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134544	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752746	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5762668	0.81[EUR][1000 genomes]
rs5762670	0.82[AMR][1000 genomes]
rs6005790	0.85[AMR][1000 genomes]
rs695388	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs695567	0.86[AMR][1000 genomes]
rs695709	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7289516	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9613609	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
2	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
4	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:28827000-28837000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:28827200-28836200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:28827200-28836200	Weak transcription	Brain Germinal Matrix	brain
8	chr22:28827200-28836400	Weak transcription	Brain Anterior Caudate	brain
9	chr22:28827200-28836400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:28827200-28837400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:28829400-28834800	Weak transcription	Osteobl	bone
12	chr22:28829400-28837600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28831000-28836400	Weak transcription	Aorta	Aorta
14	chr22:28831800-28836400	Weak transcription	Brain Substantia Nigra	brain
15	chr22:28832000-28836400	Weak transcription	Liver	Liver
16	chr22:28832200-28836400	Weak transcription	Adipose Nuclei	Adipose
17	chr22:28832400-28836200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:28832400-28836400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr22:28832400-28836400	Weak transcription	NHLF	lung
20	chr22:28832400-28836600	Weak transcription	Fetal Heart	heart
21	chr22:28832400-28837000	Weak transcription	Small Intestine	intestine
22	chr22:28832600-28836000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:28832600-28836000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:28832600-28836200	Weak transcription	NHDF-Ad	bronchial
25	chr22:28832600-28836800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:28832800-28835400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:28832800-28837800	Weak transcription	HMEC	breast
28	chr22:28833400-28835800	Flanking Active TSS	Dnd41	blood
29	chr22:28833400-28840000	Active TSS	Fetal Brain Female	brain
30	chr22:28833600-28834800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:28833600-28835000	Enhancers	Fetal Lung	lung
32	chr22:28833600-28837600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:28833800-28837600	Weak transcription	Right Atrium	heart
34	chr22:28833800-28838000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:28833800-28838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr22:28834000-28835200	Weak transcription	Ovary	ovary
37	chr22:28834000-28836400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:28834000-28836600	Weak transcription	Fetal Kidney	kidney
39	chr22:28834000-28837600	Weak transcription	NHEK	skin
40	chr22:28834000-28837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr22:28834000-28837800	Weak transcription	Psoas Muscle	Psoas
42	chr22:28834200-28834800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:28834200-28835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:28834400-28834800	Flanking Active TSS	Fetal Brain Male	brain
45	chr22:28834400-28835400	Weak transcription	Colon Smooth Muscle	Colon
46	chr22:28834600-28835000	Enhancers	Muscle Satellite Cultured Cells	--

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