Variant report

Variant	rs1275622
Chromosome Location	chr12:76239163-76239164
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	chr12:76237386..76239168-chr12:76425200..76427643,2	MCF-7	breast:
2	chr12:76231844..76233597-chr12:76237057..76239947,2	K562	blood:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275566	0.80[YRI][hapmap]
rs1275610	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275611	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275623	1.00[AMR][1000 genomes]
rs1275624	1.00[AMR][1000 genomes]
rs1296567	0.84[YRI][hapmap]
rs17115789	1.00[AMR][1000 genomes]
rs17115808	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
3	chr12:76232200-76241400	Weak transcription	Fetal Stomach	stomach
4	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
5	chr12:76236000-76239400	Weak transcription	Fetal Brain Female	brain
6	chr12:76236000-76242000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:76236400-76239200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:76236400-76242000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:76236800-76241200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:76236800-76241400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:76237400-76239200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:76237800-76239600	Enhancers	HepG2	liver
13	chr12:76238000-76239800	Enhancers	Fetal Lung	lung
14	chr12:76238000-76242000	Weak transcription	Fetal Brain Male	brain
15	chr12:76238200-76240400	Enhancers	Brain Germinal Matrix	brain
16	chr12:76238400-76239200	Enhancers	Fetal Heart	heart
17	chr12:76238400-76239800	Enhancers	HUVEC	blood vessel
18	chr12:76238400-76241600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:76238800-76239400	Enhancers	Ovary	ovary
20	chr12:76239000-76239200	Enhancers	Aorta	Aorta
21	chr12:76239000-76239200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr12:76239000-76239200	Enhancers	Brain Substantia Nigra	brain
23	chr12:76239000-76239200	Enhancers	Fetal Muscle Leg	muscle
24	chr12:76239000-76239400	Enhancers	Brain Angular Gyrus	brain
25	chr12:76239000-76239400	Enhancers	Brain Hippocampus Middle	brain
26	chr12:76239000-76239600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:76239000-76239800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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