Variant report

Variant	rs12320480
Chromosome Location	chr12:51412922-51412923
allele	C/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	IRF1	chr12:51412780-51413236	K562	blood:	n/a	chr12:51413067-51413077 chr12:51412958-51412970 chr12:51412959-51412969 chr12:51413063-51413077 chr12:51412957-51412971 chr12:51413065-51413078 chr12:51412960-51412971

No.	Distal block	Cell Line	Cell type
1	chr12:51408168..51409685-chr12:51411443..51413744,2	K562	blood:
2	chr12:51404293..51409685-chr12:51411834..51415817,7	K562	blood:
3	chr12:51399342..51401047-chr12:51411160..51415071,3	MCF-7	breast:
4	chr12:51410218..51413195-chr12:51416479..51420227,4	MCF-7	breast:
5	chr12:51408556..51414296-chr12:51415375..51421759,13	MCF-7	breast:
6	chr12:51386892..51388716-chr12:51412820..51415080,2	K562	blood:
7	chr12:51412418..51415100-chr12:51610730..51614429,3	K562	blood:
8	chr12:51403352..51405981-chr12:51411330..51414858,3	K562	blood:
9	chr12:51403202..51405028-chr12:51412638..51414252,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272028	TF binding region
ENSG00000110911	Chromatin interaction
ENSG00000184271	Chromatin interaction
ENSG00000272028	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11169656	1.00[AMR][1000 genomes]
rs12306822	1.00[AMR][1000 genomes]
rs12312871	1.00[AMR][1000 genomes]
rs12313853	1.00[AMR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:51399200-51418000	Weak transcription	Gastric	stomach
3	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
5	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
8	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
9	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
11	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:51403000-51418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:51403400-51415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:51403400-51417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:51403600-51414200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:51403600-51414400	Weak transcription	Hela-S3	cervix
17	chr12:51403600-51414600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:51403600-51417400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:51403600-51417600	Weak transcription	HSMM	muscle
20	chr12:51403800-51417000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:51404200-51414600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:51404800-51417800	Weak transcription	Fetal Brain Female	brain
23	chr12:51405800-51415000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:51406000-51414600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:51406000-51415200	Weak transcription	Right Atrium	heart
26	chr12:51406400-51417200	Weak transcription	Fetal Brain Male	brain
27	chr12:51406400-51417400	Weak transcription	Osteobl	bone
28	chr12:51406400-51417600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:51406600-51413800	Weak transcription	Brain Anterior Caudate	brain
30	chr12:51406800-51414200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:51406800-51415000	Weak transcription	Fetal Heart	heart
32	chr12:51407000-51414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:51407000-51417400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:51407000-51417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:51407000-51418000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:51407200-51415800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:51407400-51415200	Weak transcription	Placenta	Placenta
38	chr12:51407600-51413000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:51407600-51413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr12:51407600-51415200	Weak transcription	Lung	lung
41	chr12:51407600-51415600	Weak transcription	Small Intestine	intestine
42	chr12:51407600-51417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:51407600-51417600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:51408000-51414400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:51408600-51417000	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:51408600-51417000	Weak transcription	Psoas Muscle	Psoas
47	chr12:51409000-51417400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:51409800-51416400	Weak transcription	Fetal Kidney	kidney
49	chr12:51410400-51415200	Weak transcription	Pancreas	Pancrea
50	chr12:51410800-51413800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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