Variant report

Variant	rs34293193
Chromosome Location	chr22:29360450-29360451
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	chr22:29357505..29361534-chr22:29364431..29368155,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10483152	0.83[EUR][1000 genomes]
rs11704960	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12484882	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13055470	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17518058	0.90[EUR][1000 genomes]
rs5762925	0.82[EUR][1000 genomes]
rs7290686	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs997567	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29348200-29365000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:29349200-29365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29349200-29371800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29349200-29371800	Weak transcription	HSMM	muscle
5	chr22:29350000-29363000	Weak transcription	Liver	Liver
6	chr22:29350000-29372800	Weak transcription	Aorta	Aorta
7	chr22:29350400-29361000	Weak transcription	Ovary	ovary
8	chr22:29351400-29362200	Genic enhancers	HepG2	liver
9	chr22:29354800-29360600	Weak transcription	Right Ventricle	heart
10	chr22:29354800-29364800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:29354800-29365600	Weak transcription	Lung	lung
12	chr22:29355200-29365400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr22:29355400-29360800	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:29355400-29363600	Weak transcription	Fetal Stomach	stomach
15	chr22:29355400-29364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:29355400-29365000	Weak transcription	Right Atrium	heart
17	chr22:29355400-29365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:29355400-29372800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr22:29355800-29364600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29356000-29365400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:29356800-29366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:29357400-29360600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:29357600-29360600	Weak transcription	Psoas Muscle	Psoas
24	chr22:29357600-29364800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:29357800-29364800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr22:29358000-29360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr22:29358000-29360600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:29358400-29369400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:29358600-29365000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr22:29358600-29365200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr22:29358800-29361000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:29358800-29364800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:29358800-29372200	Weak transcription	Fetal Kidney	kidney
34	chr22:29359200-29372000	Weak transcription	Brain Substantia Nigra	brain
35	chr22:29359400-29360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:29359600-29361000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:29359600-29361400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr22:29359600-29361600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:29359600-29363200	Weak transcription	Fetal Muscle Leg	muscle
40	chr22:29359600-29373000	Weak transcription	Fetal Intestine Large	intestine
41	chr22:29359800-29372000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:29360000-29364800	Weak transcription	Gastric	stomach
43	chr22:29360000-29365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:29360200-29361200	Enhancers	Pancreas	Pancrea
45	chr22:29360200-29361600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr22:29360400-29360600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr22:29360400-29360800	Enhancers	Brain Anterior Caudate	brain
48	chr22:29360400-29361200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr22:29360400-29361200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr22:29360400-29361200	Enhancers	Esophagus	oesophagus

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