Variant report

Variant	rs4246973
Chromosome Location	chr14:32962492-32962493
allele	A/G
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	GATA3	chr14:32961545-32962508	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32960517..32962763-chr14:32965947..32968898,2	MCF-7	breast:

Variant related genes	Relation type
AKAP6	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2145585	0.95[EUR][1000 genomes]
rs2145586	0.95[EUR][1000 genomes]
rs2180868	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2224429	0.81[EUR][1000 genomes]
rs6571530	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
2	chr14:32957800-32963000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:32957800-32963200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:32959000-32962600	Weak transcription	Aorta	Aorta
5	chr14:32960000-32963600	Enhancers	Brain Anterior Caudate	brain
6	chr14:32960200-32962600	Enhancers	Hela-S3	cervix
7	chr14:32960200-32963000	Enhancers	Fetal Heart	heart
8	chr14:32960200-32963200	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:32960400-32964000	Enhancers	Brain Hippocampus Middle	brain
10	chr14:32960600-32963000	Enhancers	Colon Smooth Muscle	Colon
11	chr14:32960600-32963000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:32960600-32963000	Enhancers	HSMMtube	muscle
13	chr14:32960600-32963600	Enhancers	Left Ventricle	heart
14	chr14:32960600-32963800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:32960600-32964200	Enhancers	Brain Substantia Nigra	brain
16	chr14:32960600-32965000	Enhancers	Brain Angular Gyrus	brain
17	chr14:32961200-32963400	Enhancers	HSMM	muscle
18	chr14:32961200-32963600	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:32961400-32966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:32961800-32963000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr14:32962000-32963600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:32962000-32966200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:32962200-32963000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:32962200-32963400	Enhancers	Fetal Muscle Leg	muscle
25	chr14:32962200-32963400	Enhancers	Stomach Smooth Muscle	stomach
26	chr14:32962200-32963800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:32962200-32964200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:32962400-32963200	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:32962400-32963200	Enhancers	Psoas Muscle	Psoas
30	chr14:32962400-32963400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:32962400-32963400	Enhancers	Right Ventricle	heart

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