Variant report

Variant	rs60425908
Chromosome Location	chr12:122706224-122706225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:122706017-122706269	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122698849..122704062-chr12:122705218..122711671,13	MCF-7	breast:
2	chr12:122687145..122691347-chr12:122704062..122708275,6	MCF-7	breast:
3	chr12:122705056..122708320-chr12:122708578..122712255,7	MCF-7	breast:
4	chr12:122694941..122697159-chr12:122703894..122706602,2	K562	blood:
5	chr12:122236562..122239093-chr12:122704867..122707653,2	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:

No data

Variant related genes	Relation type
DIABLO	TF binding region
ENSG00000176383	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1001178	1.00[EUR][1000 genomes]
rs12310939	1.00[EUR][1000 genomes]
rs28439749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536732	1.00[EUR][1000 genomes]
rs28579554	1.00[EUR][1000 genomes]
rs55639239	1.00[EUR][1000 genomes]
rs56229172	1.00[EUR][1000 genomes]
rs56276573	1.00[EUR][1000 genomes]
rs58044975	1.00[EUR][1000 genomes]
rs58583917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58865449	1.00[EUR][1000 genomes]
rs58928984	1.00[EUR][1000 genomes]
rs59315366	0.85[AMR][1000 genomes]
rs59638725	1.00[EUR][1000 genomes]
rs60595657	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60810217	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61140498	0.86[EUR][1000 genomes]
rs7134462	1.00[EUR][1000 genomes]
rs7135931	1.00[EUR][1000 genomes]
rs7136074	1.00[EUR][1000 genomes]
rs7294427	1.00[EUR][1000 genomes]
rs7294849	1.00[EUR][1000 genomes]
rs7304287	1.00[EUR][1000 genomes]
rs7305870	1.00[EUR][1000 genomes]
rs7307891	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73404008	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404018	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404020	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73404029	1.00[EUR][1000 genomes]
rs73404037	1.00[EUR][1000 genomes]
rs73404045	1.00[EUR][1000 genomes]
rs73404046	1.00[EUR][1000 genomes]
rs73404065	1.00[EUR][1000 genomes]
rs73405849	1.00[EUR][1000 genomes]
rs73405864	1.00[EUR][1000 genomes]
rs73421714	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421727	1.00[ASN][1000 genomes]
rs73421728	1.00[ASN][1000 genomes]
rs73421737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952820	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957335	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9971771	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122689000-122709000	Weak transcription	Right Atrium	heart
2	chr12:122690600-122708000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:122690800-122708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:122690800-122708800	Strong transcription	Fetal Brain Female	brain
5	chr12:122690800-122709400	Weak transcription	Stomach Mucosa	stomach
6	chr12:122691000-122707600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:122691000-122707800	Strong transcription	Thymus	Thymus
8	chr12:122691000-122708200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:122691000-122708800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:122691000-122708800	Strong transcription	A549	lung
11	chr12:122691200-122706600	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr12:122691200-122708000	Strong transcription	Brain Germinal Matrix	brain
13	chr12:122691200-122708000	Strong transcription	Stomach Smooth Muscle	stomach
14	chr12:122691200-122708400	Strong transcription	Duodenum Mucosa	Duodenum
15	chr12:122691200-122708600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:122691200-122708800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:122691200-122709000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:122691200-122709200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr12:122691400-122707200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:122691400-122707800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:122691400-122707800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:122691400-122708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:122691400-122708200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:122691400-122708400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:122691400-122708400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122691400-122708800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:122691400-122709000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr12:122691400-122709000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:122691400-122709000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:122691400-122709000	Strong transcription	Fetal Thymus	thymus
31	chr12:122691600-122707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:122691600-122707400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:122691600-122707800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:122691600-122708000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:122691600-122708000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:122691600-122708400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:122691600-122708400	Strong transcription	Placenta	Placenta
38	chr12:122691600-122708400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:122691600-122709000	Strong transcription	Brain Hippocampus Middle	brain
40	chr12:122691600-122709000	Strong transcription	Fetal Muscle Leg	muscle
41	chr12:122691600-122709200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:122691800-122708000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:122691800-122708400	Strong transcription	Liver	Liver
44	chr12:122691800-122708600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:122691800-122709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:122691800-122709000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr12:122692000-122706800	Strong transcription	NH-A	brain
48	chr12:122692000-122708400	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:122692200-122707600	Strong transcription	Osteobl	bone
50	chr12:122692200-122708400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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