Variant report

Variant	rs34578331
Chromosome Location	chr22:29347215-29347216
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13056243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13058453	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16986825	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16986838	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16986861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16986864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28360615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs739196	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs916332	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29332600-29347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29333800-29347800	Weak transcription	Gastric	stomach
3	chr22:29335800-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29336200-29347600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29338600-29347600	Weak transcription	Left Ventricle	heart
6	chr22:29339600-29347600	Weak transcription	Pancreas	Pancrea
7	chr22:29339800-29347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:29339800-29352600	Weak transcription	Stomach Mucosa	stomach
9	chr22:29340000-29349200	Weak transcription	Aorta	Aorta
10	chr22:29343000-29347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:29343800-29347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:29344400-29347400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:29344600-29347400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:29345200-29347600	Weak transcription	Esophagus	oesophagus
15	chr22:29345200-29350800	Enhancers	Fetal Muscle Leg	muscle
16	chr22:29345400-29349800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:29345400-29350000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:29345400-29350000	Enhancers	Fetal Lung	lung
19	chr22:29345600-29347600	Enhancers	Colon Smooth Muscle	Colon
20	chr22:29345600-29349600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:29345600-29350200	Enhancers	Fetal Kidney	kidney
22	chr22:29345800-29347800	Enhancers	Adipose Nuclei	Adipose
23	chr22:29345800-29349400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr22:29345800-29349800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr22:29345800-29350000	Enhancers	Rectal Smooth Muscle	rectum
26	chr22:29345800-29350600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr22:29345800-29351200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr22:29346000-29348600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:29346000-29350000	Enhancers	Liver	Liver
30	chr22:29346200-29347600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:29346200-29347600	Enhancers	Brain Germinal Matrix	brain
32	chr22:29346200-29348400	Enhancers	Brain Anterior Caudate	brain
33	chr22:29346400-29347400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr22:29346400-29347600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:29346400-29347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr22:29346400-29347600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr22:29346400-29347600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr22:29346400-29347600	Weak transcription	Psoas Muscle	Psoas
39	chr22:29346400-29347800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:29346400-29347800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:29346400-29347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr22:29346400-29347800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:29346400-29348000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr22:29346400-29348000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:29346400-29348200	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:29346400-29353800	Weak transcription	NHEK	skin
47	chr22:29346400-29357400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:29346600-29347600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr22:29346600-29347600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:29346600-29347800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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