Variant report

Variant	rs57188271
Chromosome Location	chr22:29320261-29320262
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	chr22:29315873..29318298-chr22:29320072..29322086,2	K562	blood:

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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55945584	0.86[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]
rs57119189	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58221763	1.00[EUR][1000 genomes]
rs59519868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59546292	1.00[EUR][1000 genomes]
rs60003056	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6005942	1.00[EUR][1000 genomes]
rs60187407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60747358	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60780652	1.00[EUR][1000 genomes]
rs61257487	1.00[EUR][1000 genomes]
rs61581392	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	0.86[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882405	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73882406	0.86[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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29314400-29342800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:29314600-29321800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr22:29314800-29328400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29315200-29326400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29315800-29325000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:29316400-29322600	Enhancers	Fetal Lung	lung
7	chr22:29316600-29322600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:29317000-29321000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr22:29317200-29322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29317600-29321800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:29317600-29325400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:29317800-29321200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr22:29317800-29321400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:29317800-29329400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:29318200-29326600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr22:29318400-29320400	Enhancers	Fetal Heart	heart
17	chr22:29318400-29321000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr22:29318600-29320400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:29318600-29320600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr22:29318600-29320600	Enhancers	Lung	lung
21	chr22:29318600-29320600	Enhancers	Ovary	ovary
22	chr22:29318600-29321000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr22:29318600-29321000	Enhancers	Placenta	Placenta
24	chr22:29318600-29321000	Enhancers	Pancreas	Pancrea
25	chr22:29318600-29321600	Enhancers	Fetal Intestine Small	intestine
26	chr22:29318600-29322000	Enhancers	Fetal Intestine Large	intestine
27	chr22:29318600-29322200	Enhancers	Fetal Kidney	kidney
28	chr22:29318800-29320400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:29318800-29320400	Enhancers	Gastric	stomach
30	chr22:29318800-29320400	Enhancers	HMEC	breast
31	chr22:29319000-29320400	Enhancers	Colon Smooth Muscle	Colon
32	chr22:29319000-29321200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr22:29319200-29320400	Enhancers	A549	lung
34	chr22:29319200-29320600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:29319200-29320600	Enhancers	Fetal Muscle Trunk	muscle
36	chr22:29319400-29326200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr22:29319600-29320400	Enhancers	Brain Angular Gyrus	brain
38	chr22:29319600-29320400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr22:29319600-29320600	Enhancers	Fetal Muscle Leg	muscle
40	chr22:29319800-29320400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr22:29319800-29320400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr22:29319800-29320400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr22:29319800-29320400	Flanking Active TSS	HepG2	liver
44	chr22:29319800-29320400	Enhancers	NH-A	brain
45	chr22:29319800-29320400	Flanking Active TSS	NHEK	skin
46	chr22:29319800-29320600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:29319800-29320600	Enhancers	Brain Cingulate Gyrus	brain
48	chr22:29319800-29320600	Enhancers	Fetal Brain Male	brain
49	chr22:29319800-29320600	Enhancers	Psoas Muscle	Psoas
50	chr22:29319800-29320800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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