Variant report

Variant	rs8006273
Chromosome Location	chr14:67996723-67996724
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:67996545-67997182	MCF-7	breast:	n/a	n/a
2	FOXA1	chr14:67996603-67997070	T-47D	breast:	n/a	n/a
3	GATA3	chr14:67996583-67997095	T-47D	breast:	n/a	n/a
4	ESR1	chr14:67996627-67997069	T-47D	breast:	n/a	n/a
5	FOXA1	chr14:67996642-67997042	T-47D	breast:	n/a	n/a
6	TCF7L2	chr14:67996718-67997019	HEK293	kidney:	n/a	n/a
7	GATA3	chr14:67996614-67997125	T-47D	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67995239..67997099-chr14:67998402..68000808,2	K562	blood:
2	chr14:67995220..67996919-chr14:68003056..68004904,2	MCF-7	breast:
3	chr14:67992087..67994846-chr14:67995008..67996924,2	K562	blood:
4	chr14:67991625..67997296-chr14:67997999..68001553,11	MCF-7	breast:

No data

Variant related genes	Relation type
PLEKHH1	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1465118	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs17184938	1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3742867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72721024	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs731680	1.00[CHB][hapmap];0.91[ASN][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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8006273	PLEKHH1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67982600-67999000	Weak transcription	Right Atrium	heart
2	chr14:67991600-67999000	Weak transcription	Stomach Mucosa	stomach
3	chr14:67991800-67998800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:67993200-67997200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:67993200-67997800	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:67993200-67998600	Enhancers	Brain Hippocampus Middle	brain
7	chr14:67993200-67999000	Enhancers	Brain Substantia Nigra	brain
8	chr14:67994000-67997400	Weak transcription	Placenta	Placenta
9	chr14:67994000-67998000	Weak transcription	Pancreas	Pancrea
10	chr14:67994000-67998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:67994000-67998800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:67994000-67998800	Weak transcription	Fetal Intestine Small	intestine
13	chr14:67994000-67999000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr14:67994000-67999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:67994000-67999000	Weak transcription	Fetal Intestine Large	intestine
16	chr14:67994800-67998000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:67994800-67999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:67995200-67999000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:67996600-67997800	Weak transcription	Brain Angular Gyrus	brain
20	chr14:67996600-67998200	Weak transcription	Brain Anterior Caudate	brain

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