Variant report

Variant	rs4902478
Chromosome Location	chr14:67998049-67998050
allele	A/C
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	GATA2	chr14:67997791-67998165	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr14:67997776-67998174	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67997332..67999745-chr14:68050873..68052714,2	MCF-7	breast:
2	chr14:67991794..67994856-chr14:67997202..67999536,4	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11158681	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158682	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158683	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11158684	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12434659	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064929	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902479	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902482	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902483	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902484	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902486	0.88[EUR][1000 genomes]
rs6573780	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7147529	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7154636	0.84[EUR][1000 genomes]
rs7155887	0.87[AMR][1000 genomes];0.84[EUR][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

No data

Chromatin state (count:21 , 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	chr14:67993200-67998600	Enhancers	Brain Hippocampus Middle	brain
5	chr14:67993200-67999000	Enhancers	Brain Substantia Nigra	brain
6	chr14:67994000-67998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:67994000-67998800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:67994000-67998800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:67994000-67999000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:67994000-67999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:67994000-67999000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:67994800-67999200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:67995200-67999000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:67996600-67998200	Weak transcription	Brain Anterior Caudate	brain
15	chr14:67997200-67998600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:67997400-67999200	Enhancers	Placenta	Placenta
17	chr14:67997800-67998600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:67998000-67998200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr14:67998000-67998200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:67998000-67998200	Enhancers	Pancreas	Pancrea
21	chr14:67998000-67998600	Weak transcription	Brain Angular Gyrus	brain

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