Variant report

Variant	rs4760336
Chromosome Location	chr12:58245220-58245221
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	SIN3A	chr12:58245109-58245242	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:58234916..58238373-chr12:58245193..58248613,3	K562	blood:
2	chr12:58242304..58245616-chr12:58249700..58252095,4	MCF-7	breast:
3	chr12:58243942..58248184-chr12:58281468..58284195,4	MCF-7	breast:

Variant related genes	Relation type
CTDSP2	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12304123	1.00[ASN][1000 genomes]
rs3211607	1.00[AMR][1000 genomes]
rs3211614	1.00[AMR][1000 genomes]
rs3211618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3211627	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4016098	1.00[EUR][1000 genomes]
rs4447215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760322	1.00[AMR][1000 genomes]
rs4760323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4760338	1.00[AMR][1000 genomes]
rs73338229	1.00[EUR][1000 genomes]
rs73338231	1.00[EUR][1000 genomes]
rs73338254	1.00[EUR][1000 genomes]
rs73344397	1.00[ASN][1000 genomes]
rs73346380	1.00[ASN][1000 genomes]
rs7956170	1.00[ASN][1000 genomes]
rs8176339	1.00[AMR][1000 genomes]
rs8176344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8176350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58241200-58245600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:58241200-58245600	Weak transcription	NHDF-Ad	bronchial
3	chr12:58241200-58245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:58241200-58245800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:58241200-58246000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:58241200-58246000	Weak transcription	Fetal Brain Male	brain
7	chr12:58241200-58246000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:58241200-58246000	Weak transcription	HMEC	breast
9	chr12:58241200-58246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:58241400-58245800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:58242200-58245400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:58242200-58246000	Weak transcription	Esophagus	oesophagus
13	chr12:58242200-58246000	Weak transcription	Pancreas	Pancrea
14	chr12:58243000-58245600	Enhancers	Fetal Muscle Leg	muscle
15	chr12:58243000-58246200	Enhancers	Psoas Muscle	Psoas
16	chr12:58243200-58250200	Weak transcription	K562	blood
17	chr12:58243600-58246200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:58244000-58246000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:58244000-58246000	Enhancers	Adipose Nuclei	Adipose
20	chr12:58244000-58246000	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:58244000-58246200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr12:58244000-58246200	Enhancers	Fetal Thymus	thymus
23	chr12:58244000-58246200	Enhancers	Right Atrium	heart
24	chr12:58244000-58247600	Enhancers	Spleen	Spleen
25	chr12:58244200-58245800	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:58244200-58245800	Enhancers	Stomach Smooth Muscle	stomach
27	chr12:58244200-58246200	Enhancers	Placenta	Placenta
28	chr12:58244200-58246200	Enhancers	Thymus	Thymus
29	chr12:58244200-58246400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
30	chr12:58244400-58245600	Enhancers	Aorta	Aorta
31	chr12:58244400-58245800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:58244400-58246000	Enhancers	Brain Angular Gyrus	brain
33	chr12:58244400-58246000	Enhancers	Brain Anterior Caudate	brain
34	chr12:58244400-58246000	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:58244400-58246000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:58244400-58246000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:58244400-58246000	Enhancers	Colon Smooth Muscle	Colon
38	chr12:58244400-58246000	Enhancers	Fetal Stomach	stomach
39	chr12:58244400-58246000	Enhancers	Left Ventricle	heart
40	chr12:58244400-58246000	Enhancers	Right Ventricle	heart
41	chr12:58244400-58246200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:58244400-58246200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:58244400-58246200	Enhancers	Primary hematopoietic stem cells	blood
44	chr12:58244400-58246200	Enhancers	Brain Substantia Nigra	brain
45	chr12:58244400-58246800	Bivalent Enhancer	GM12878-XiMat	blood
46	chr12:58244400-58247000	Enhancers	Fetal Heart	heart
47	chr12:58244400-58247200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr12:58244400-58248000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr12:58244400-58248400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:58244800-58245400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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