Variant report

Variant	rs59475424
Chromosome Location	chr12:30856968-30856969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30856618..30858615-chr12:30863919..30865473,2	MCF-7	breast:
2	chr12:30844050..30850781-chr12:30854348..30859456,6	K562	blood:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57268360	1.00[AMR][1000 genomes]
rs57283759	1.00[AMR][1000 genomes]
rs57348846	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520861	1.00[AMR][1000 genomes]
rs58594026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58736630	1.00[AMR][1000 genomes]
rs59058346	1.00[AMR][1000 genomes]
rs60192978	1.00[AMR][1000 genomes]
rs60404848	1.00[AMR][1000 genomes]
rs61501812	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30860600	Weak transcription	NH-A	brain
3	chr12:30849400-30861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
6	chr12:30849600-30861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:30849600-30861800	Weak transcription	NHEK	skin
10	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:30849600-30862000	Weak transcription	HMEC	breast
12	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
17	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
18	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:30849800-30862400	Weak transcription	Lung	lung
28	chr12:30849800-30862600	Weak transcription	Ovary	ovary
29	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
31	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
32	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
33	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:30850000-30860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:30850200-30861800	Weak transcription	Dnd41	blood
36	chr12:30853400-30862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:30853600-30862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:30853600-30862800	Weak transcription	Fetal Stomach	stomach
39	chr12:30853800-30867000	Weak transcription	Esophagus	oesophagus
40	chr12:30854000-30862000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:30854000-30862600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:30854200-30860000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:30854200-30861800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:30854200-30861800	Weak transcription	Brain Angular Gyrus	brain
45	chr12:30854200-30861800	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:30854200-30861800	Weak transcription	HSMM	muscle
47	chr12:30854200-30862000	Weak transcription	HSMMtube	muscle
48	chr12:30854200-30862200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr12:30854200-30862800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:30854400-30857800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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