Variant report

Variant	rs60258475
Chromosome Location	chr12:122763299-122763300
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122709020..122710648-chr12:122761773..122763622,2	MCF-7	breast:
2	chr12:122748134..122753515-chr12:122760156..122766963,8	K562	blood:

Variant related genes	Relation type
ENSG00000184047	Chromatin interaction
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12579871	1.00[EUR][1000 genomes]
rs34996966	1.00[EUR][1000 genomes]
rs35944862	1.00[EUR][1000 genomes]
rs55759231	1.00[EUR][1000 genomes]
rs55778375	1.00[EUR][1000 genomes]
rs56038133	1.00[EUR][1000 genomes]
rs56207858	1.00[EUR][1000 genomes]
rs56219573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241657	1.00[EUR][1000 genomes]
rs56981632	1.00[EUR][1000 genomes]
rs58226649	1.00[EUR][1000 genomes]
rs59315366	1.00[EUR][1000 genomes]
rs59553747	1.00[EUR][1000 genomes]
rs59743902	1.00[EUR][1000 genomes]
rs60317410	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60623525	1.00[EUR][1000 genomes]
rs61096099	1.00[EUR][1000 genomes]
rs61954384	1.00[EUR][1000 genomes]
rs6488916	1.00[EUR][1000 genomes]
rs6488917	1.00[EUR][1000 genomes]
rs71082959	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7955389	1.00[EUR][1000 genomes]
rs7970522	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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122752000-122764000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:122752000-122764000	Weak transcription	Fetal Heart	heart
4	chr12:122752000-122764200	Weak transcription	Stomach Mucosa	stomach
5	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
7	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122752200-122766800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:122752600-122765200	Weak transcription	Hela-S3	cervix
12	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:122755200-122764000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:122755400-122764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:122755400-122765800	Strong transcription	Adipose Nuclei	Adipose
16	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:122756000-122766200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr12:122756200-122766800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:122756600-122766000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:122757000-122763600	Strong transcription	Fetal Intestine Small	intestine
21	chr12:122757200-122766200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:122758200-122764000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:122758800-122764400	Weak transcription	NH-A	brain
25	chr12:122759000-122766600	Weak transcription	HMEC	breast
26	chr12:122759000-122782200	Weak transcription	Right Ventricle	heart
27	chr12:122760000-122763400	Strong transcription	Rectal Smooth Muscle	rectum
28	chr12:122760000-122763600	Strong transcription	Esophagus	oesophagus
29	chr12:122760000-122763600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr12:122760000-122764000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:122760000-122765200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:122760200-122763600	Strong transcription	Fetal Intestine Large	intestine
33	chr12:122760200-122763800	Strong transcription	HSMMtube	muscle
34	chr12:122760200-122764400	Strong transcription	Osteobl	bone
35	chr12:122760200-122790400	Strong transcription	Placenta	Placenta
36	chr12:122760400-122763600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:122760400-122764200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:122760400-122764400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:122760400-122766000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:122760400-122766200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr12:122760400-122774800	Strong transcription	Liver	Liver
42	chr12:122760800-122763400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:122760800-122763600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr12:122760800-122763600	Strong transcription	Left Ventricle	heart
45	chr12:122760800-122763800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:122760800-122765800	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:122760800-122765800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:122760800-122766000	Strong transcription	Primary T cells from cord blood	blood
49	chr12:122760800-122766000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:122761000-122763600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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