Variant report

Variant	rs74089122
Chromosome Location	chr12:48536406-48536407
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	chr12:48530838..48533486-chr12:48533641..48536474,3	K562	blood:
2	chr12:48530838..48532658-chr12:48534908..48536474,2	K562	blood:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56009798	1.00[AFR][1000 genomes]
rs56692411	1.00[AFR][1000 genomes]
rs57539024	0.83[AFR][1000 genomes]
rs59233899	0.87[AFR][1000 genomes]
rs59896935	0.83[AFR][1000 genomes]
rs60432008	0.83[AFR][1000 genomes]
rs74086997	1.00[AFR][1000 genomes]
rs74089112	0.83[AFR][1000 genomes]
rs74089160	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv558790	chr12:48529168-48539888	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
8	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
13	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
15	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
22	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
23	chr12:48523400-48546600	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:48523800-48540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:48523800-48547400	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:48525000-48539800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:48525400-48536600	Weak transcription	Right Atrium	heart
28	chr12:48525600-48546200	Strong transcription	A549	lung
29	chr12:48526200-48547600	Strong transcription	Adipose Nuclei	Adipose
30	chr12:48526400-48540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:48526400-48543600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:48527000-48536600	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr12:48527200-48538200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:48529200-48536600	Weak transcription	Pancreas	Pancrea
35	chr12:48529200-48542000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:48529600-48539600	Weak transcription	K562	blood
37	chr12:48530200-48547600	Strong transcription	Placenta	Placenta
38	chr12:48530400-48539800	Strong transcription	Fetal Intestine Small	intestine
39	chr12:48531000-48540400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:48531000-48540800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:48531000-48541400	Strong transcription	Brain Anterior Caudate	brain
42	chr12:48531000-48541800	Strong transcription	Fetal Lung	lung
43	chr12:48531000-48546400	Strong transcription	Brain Angular Gyrus	brain
44	chr12:48531000-48547400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:48531000-48547800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:48531200-48540200	Strong transcription	Ovary	ovary
47	chr12:48531200-48540200	Strong transcription	NHLF	lung
48	chr12:48531200-48540400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:48531200-48540400	Strong transcription	Colon Smooth Muscle	Colon
50	chr12:48531200-48540400	Strong transcription	NHEK	skin

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