Variant report

Variant	rs57230076
Chromosome Location	chr22:29910717-29910718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16987752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2072303	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2074949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267146	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2270079	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302142	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57995671	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58189880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511168	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29894600-29914800	Weak transcription	Hela-S3	cervix
2	chr22:29895800-29916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:29897600-29934600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29898400-29911400	Weak transcription	Fetal Kidney	kidney
6	chr22:29900400-29913200	Weak transcription	Fetal Heart	heart
7	chr22:29900400-29929000	Strong transcription	Fetal Stomach	stomach
8	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr22:29900600-29918000	Strong transcription	Fetal Thymus	thymus
10	chr22:29900800-29918000	Strong transcription	Fetal Muscle Leg	muscle
11	chr22:29900800-29929000	Strong transcription	Fetal Intestine Small	intestine
12	chr22:29900800-29930600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:29901000-29918000	Strong transcription	Fetal Intestine Large	intestine
14	chr22:29901000-29918400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:29901000-29947600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:29901200-29913400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr22:29901200-29916600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:29901200-29917000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:29901200-29918000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:29901200-29925200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:29901200-29929600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29901200-29941600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:29901200-29945600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:29901400-29937200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr22:29901400-29945800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:29901800-29918000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr22:29902000-29917800	Strong transcription	Brain Anterior Caudate	brain
28	chr22:29902000-29918000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr22:29902000-29918000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:29902200-29914400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:29902200-29937000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr22:29902400-29923800	Strong transcription	Lung	lung
33	chr22:29902400-29930000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:29902400-29941200	Strong transcription	Placenta	Placenta
35	chr22:29902600-29914400	Weak transcription	Stomach Mucosa	stomach
36	chr22:29902600-29918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr22:29902600-29949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:29903200-29918000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:29903600-29931000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29904600-29911200	Weak transcription	GM12878-XiMat	blood
41	chr22:29904600-29927600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr22:29905600-29910800	Weak transcription	Small Intestine	intestine
43	chr22:29907600-29912400	Weak transcription	Psoas Muscle	Psoas
44	chr22:29908000-29911400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:29908000-29912200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr22:29908200-29911000	Weak transcription	HUVEC	blood vessel
47	chr22:29908200-29911400	Weak transcription	Colonic Mucosa	Colon
48	chr22:29908200-29911800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr22:29908200-29912400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:29908200-29912400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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