Variant report

Variant	rs12170282
Chromosome Location	chr22:29753239-29753240
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29702501..29704221-chr22:29752358..29754347,2	K562	blood:

Variant related genes	Relation type
ENSG00000185340	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12166223	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12167481	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12169052	1.00[EUR][1000 genomes]
rs28425720	1.00[EUR][1000 genomes]
rs5742311	1.00[EUR][1000 genomes]
rs73397027	1.00[EUR][1000 genomes]
rs73397030	1.00[EUR][1000 genomes]
rs73397032	1.00[EUR][1000 genomes]
rs73399041	1.00[EUR][1000 genomes]
rs73399052	1.00[EUR][1000 genomes]
rs73399059	1.00[EUR][1000 genomes]
rs9620871	1.00[EUR][1000 genomes]
rs9620872	1.00[EUR][1000 genomes]
rs9620884	1.00[EUR][1000 genomes]
rs9625764	1.00[EUR][1000 genomes]
rs9625773	1.00[EUR][1000 genomes]
rs9625784	1.00[EUR][1000 genomes]
rs9625785	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29721800-29756800	Strong transcription	Primary T cells from cord blood	blood
2	chr22:29722000-29759200	Strong transcription	Dnd41	blood
3	chr22:29722000-29759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29722200-29755800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:29722200-29756400	Strong transcription	Thymus	Thymus
6	chr22:29722200-29756600	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr22:29722200-29759800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:29722400-29756800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr22:29722400-29758400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:29722600-29755400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr22:29722600-29756000	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr22:29722600-29757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:29722600-29758000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr22:29722600-29758800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:29723000-29758800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr22:29723000-29765000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:29725400-29756200	Strong transcription	Primary B cells from cord blood	blood
18	chr22:29727400-29756200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:29728000-29756200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:29728400-29755400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr22:29731800-29755400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr22:29738200-29755800	Strong transcription	Spleen	Spleen
23	chr22:29739000-29762800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr22:29739200-29755400	Weak transcription	Right Atrium	heart
25	chr22:29739400-29755600	Strong transcription	Gastric	stomach
26	chr22:29739800-29757200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:29740200-29755600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:29740200-29756400	Strong transcription	Fetal Thymus	thymus
29	chr22:29740600-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:29740800-29756000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:29740800-29759000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr22:29741000-29755200	Strong transcription	Fetal Stomach	stomach
33	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
34	chr22:29741600-29755400	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr22:29741600-29755400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:29741800-29756200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:29741800-29757200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr22:29741800-29760200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29742000-29755800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:29742000-29755800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr22:29742000-29755800	Strong transcription	Osteobl	bone
42	chr22:29742000-29756000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr22:29742000-29756000	Strong transcription	NHEK	skin
44	chr22:29742000-29757000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:29742200-29755400	Strong transcription	Esophagus	oesophagus
46	chr22:29742200-29756200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:29742200-29756200	Strong transcription	Lung	lung
48	chr22:29742400-29755600	Strong transcription	Colonic Mucosa	Colon
49	chr22:29742400-29756000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:29743000-29755400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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