Variant report

Variant	rs7148474
Chromosome Location	chr14:32962115-32962116
allele	A/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	POLR2A	chr14:32961625-32962359	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr14:32961515-32962445	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr14:32961570-32962429	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr14:32961674-32962263	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr14:32961563-32962410	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr14:32961591-32962342	SK-N-SH	brain:	n/a	chr14:32961843-32961871
7	PBX3	chr14:32961569-32962438	SK-N-SH	brain:	n/a	n/a
8	EP300	chr14:32961607-32962446	SK-N-SH	brain:	n/a	n/a
9	EP300	chr14:32961708-32962305	SK-N-SH	brain:	n/a	n/a
10	JUND	chr14:32961616-32962243	SK-N-SH	brain:	n/a	n/a
11	FOXM1	chr14:32961685-32962268	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr14:32961522-32962418	SK-N-SH	brain:	n/a	n/a
13	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: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130852	0.88[AFR][1000 genomes]
rs2145583	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2145584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6571528	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161453	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721537	1.00[CHB][hapmap]
rs73267394	0.92[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	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32947600-32962200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:32947800-32963400	Weak transcription	Right Atrium	heart
3	chr14:32957800-32963000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:32957800-32963200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:32958200-32962400	Weak transcription	Right Ventricle	heart
6	chr14:32958600-32962400	Weak transcription	Psoas Muscle	Psoas
7	chr14:32959000-32962600	Weak transcription	Aorta	Aorta
8	chr14:32960000-32963600	Enhancers	Brain Anterior Caudate	brain
9	chr14:32960200-32962600	Enhancers	Hela-S3	cervix
10	chr14:32960200-32963000	Enhancers	Fetal Heart	heart
11	chr14:32960200-32963200	Enhancers	Brain Cingulate Gyrus	brain
12	chr14:32960400-32964000	Enhancers	Brain Hippocampus Middle	brain
13	chr14:32960600-32963000	Enhancers	Colon Smooth Muscle	Colon
14	chr14:32960600-32963000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:32960600-32963000	Enhancers	HSMMtube	muscle
16	chr14:32960600-32963600	Enhancers	Left Ventricle	heart
17	chr14:32960600-32963800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:32960600-32964200	Enhancers	Brain Substantia Nigra	brain
19	chr14:32960600-32965000	Enhancers	Brain Angular Gyrus	brain
20	chr14:32961200-32963400	Enhancers	HSMM	muscle
21	chr14:32961200-32963600	Enhancers	Rectal Smooth Muscle	rectum
22	chr14:32961400-32962200	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:32961400-32966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:32961800-32962200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:32961800-32962400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:32961800-32963000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:32962000-32962200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:32962000-32962200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:32962000-32963600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:32962000-32966200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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