Variant report

Variant	rs60422087
Chromosome Location	chr12:124234660-124234661
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124233860-124235793	K562	blood:	n/a	n/a
2	E2F4	chr12:124234466-124234662	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ATP6V0A2	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11833681	1.00[EUR][1000 genomes]
rs11835416	1.00[EUR][1000 genomes]
rs11836598	1.00[EUR][1000 genomes]
rs56025259	1.00[EUR][1000 genomes]
rs56096831	1.00[EUR][1000 genomes]
rs57024764	1.00[EUR][1000 genomes]
rs58292766	1.00[EUR][1000 genomes]
rs59107032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59540041	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59689888	1.00[EUR][1000 genomes]
rs60509888	1.00[EUR][1000 genomes]
rs60571579	1.00[EUR][1000 genomes]
rs60654678	1.00[EUR][1000 genomes]
rs60890562	1.00[EUR][1000 genomes]
rs61174884	1.00[EUR][1000 genomes]
rs61231375	1.00[EUR][1000 genomes]
rs61730202	1.00[EUR][1000 genomes]
rs61735933	1.00[EUR][1000 genomes]
rs61756271	1.00[EUR][1000 genomes]
rs7135932	1.00[EUR][1000 genomes]
rs7296360	1.00[EUR][1000 genomes]
rs73420341	1.00[EUR][1000 genomes]
rs73420349	1.00[EUR][1000 genomes]
rs73420352	1.00[EUR][1000 genomes]
rs7962743	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7962913	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973463	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124201800-124247800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:124202200-124242600	Strong transcription	Fetal Stomach	stomach
3	chr12:124202600-124245200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:124202600-124245200	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:124203400-124239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:124203600-124242400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:124203600-124242400	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:124203600-124244600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:124203600-124246000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:124203800-124240000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:124203800-124245000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:124203800-124248000	Strong transcription	Dnd41	blood
13	chr12:124204000-124235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:124204000-124235800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:124204000-124239800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:124205000-124242400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr12:124206000-124241800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:124206200-124237200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:124206400-124237600	Strong transcription	Adipose Nuclei	Adipose
20	chr12:124208800-124244800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:124209200-124236000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr12:124209200-124242600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:124209800-124239600	Strong transcription	Brain Germinal Matrix	brain
24	chr12:124213000-124243400	Strong transcription	Fetal Intestine Small	intestine
25	chr12:124215400-124236200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr12:124215400-124242600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:124215400-124244800	Strong transcription	Liver	Liver
28	chr12:124215800-124240000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr12:124215800-124242400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:124217200-124240000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:124217400-124239800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:124220200-124236200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:124221800-124246200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:124223200-124240000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:124223400-124240000	Strong transcription	Fetal Intestine Large	intestine
36	chr12:124224200-124238800	Weak transcription	Fetal Kidney	kidney
37	chr12:124224200-124246400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:124226200-124239600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:124228000-124236000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:124228600-124235800	Strong transcription	HSMM	muscle
41	chr12:124229400-124240000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:124229600-124235800	Strong transcription	Primary B cells from cord blood	blood
43	chr12:124229800-124246400	Weak transcription	Psoas Muscle	Psoas
44	chr12:124230200-124246000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:124230800-124240000	Strong transcription	Fetal Brain Female	brain
46	chr12:124231000-124236000	Strong transcription	Gastric	stomach
47	chr12:124231400-124235800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:124231600-124235200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:124231600-124235800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:124231600-124235800	Strong transcription	Aorta	Aorta

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