Variant report

Variant	rs57119189
Chromosome Location	chr22:29315287-29315288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11912894	1.00[EUR][1000 genomes]
rs11913224	1.00[EUR][1000 genomes]
rs11913805	1.00[EUR][1000 genomes]
rs17882995	1.00[EUR][1000 genomes]
rs55665300	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945584	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56089216	1.00[EUR][1000 genomes]
rs56332784	1.00[EUR][1000 genomes]
rs57188271	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57198336	1.00[EUR][1000 genomes]
rs57846969	1.00[EUR][1000 genomes]
rs58089713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162235	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60747358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs61581392	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs722590	1.00[EUR][1000 genomes]
rs7287244	1.00[EUR][1000 genomes]
rs73881187	1.00[EUR][1000 genomes]
rs73881189	1.00[EUR][1000 genomes]
rs73881197	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881200	1.00[EUR][1000 genomes]
rs73881201	1.00[EUR][1000 genomes]
rs73882404	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882405	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882406	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882414	1.00[EUR][1000 genomes]
rs73882422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882424	1.00[EUR][1000 genomes]
rs73882428	1.00[EUR][1000 genomes]
rs73882440	1.00[EUR][1000 genomes]
rs73882443	1.00[EUR][1000 genomes]
rs73882445	1.00[EUR][1000 genomes]
rs73882447	1.00[EUR][1000 genomes]
rs73882449	1.00[EUR][1000 genomes]
rs8138963	1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29311600-29315600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:29311600-29316000	Enhancers	Fetal Lung	lung
3	chr22:29312000-29315800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:29312200-29315800	Enhancers	Fetal Muscle Leg	muscle
5	chr22:29312200-29316000	Enhancers	Placenta	Placenta
6	chr22:29312400-29315400	Enhancers	Brain Anterior Caudate	brain
7	chr22:29312400-29315400	Enhancers	Ovary	ovary
8	chr22:29312400-29315600	Enhancers	Fetal Stomach	stomach
9	chr22:29312600-29315400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr22:29312600-29315400	Enhancers	Brain Angular Gyrus	brain
11	chr22:29312600-29316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:29312800-29315400	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:29312800-29315400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:29313000-29315800	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:29313200-29315400	Enhancers	Brain Hippocampus Middle	brain
16	chr22:29313200-29318600	Weak transcription	Spleen	Spleen
17	chr22:29313800-29315400	Enhancers	Fetal Intestine Small	intestine
18	chr22:29314200-29315400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr22:29314200-29315400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr22:29314200-29315400	Enhancers	Fetal Heart	heart
21	chr22:29314200-29318600	Weak transcription	Colonic Mucosa	Colon
22	chr22:29314200-29319800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr22:29314400-29318600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:29314400-29318800	Weak transcription	HMEC	breast
25	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
26	chr22:29314600-29315400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29314600-29315400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr22:29314600-29316600	Enhancers	HepG2	liver
29	chr22:29314600-29316800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:29314600-29316800	Weak transcription	A549	lung
31	chr22:29314600-29317200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:29314600-29317400	Weak transcription	NHEK	skin
33	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:29314800-29316000	Weak transcription	Liver	Liver
35	chr22:29314800-29316600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr22:29314800-29316800	Weak transcription	Esophagus	oesophagus
37	chr22:29314800-29319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:29314800-29319800	Weak transcription	NH-A	brain
39	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr22:29315000-29315400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:29315000-29315400	Enhancers	Colon Smooth Muscle	Colon
42	chr22:29315000-29315400	Enhancers	Rectal Smooth Muscle	rectum
43	chr22:29315000-29315400	Enhancers	HSMM	muscle
44	chr22:29315000-29315600	Enhancers	Fetal Kidney	kidney
45	chr22:29315000-29316400	Weak transcription	Pancreas	Pancrea
46	chr22:29315000-29316600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr22:29315000-29316800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr22:29315000-29316800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:29315000-29316800	Weak transcription	Lung	lung
50	chr22:29315000-29317400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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