Variant report

Variant	rs747860
Chromosome Location	chr14:65239894-65239895
allele	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	MAX	chr14:65239767-65240110	NB4	blood:	n/a	n/a
2	POLR2A	chr14:65239838-65240589	K562	blood:	n/a	n/a
3	USF2	chr14:65239844-65240077	Hela-S3	cervix:	n/a	chr14:65239937-65239948
4	USF2	chr14:65239801-65240017	HepG2	liver:	n/a	chr14:65239937-65239948

No.	Distal block	Cell Line	Cell type
1	chr14:65233747..65236577-chr14:65237458..65240181,3	MCF-7	breast:
2	chr14:65235455..65238198-chr14:65239523..65242367,2	K562	blood:
3	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
4	chr14:65210793..65213211-chr14:65239512..65241809,2	MCF-7	breast:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1499517	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17180385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17180532	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1741490	0.89[GIH][hapmap]
rs2273475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs229576	1.00[JPT][hapmap]
rs59914095	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60545775	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573571	1.00[JPT][hapmap]
rs8004506	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs747860	GPHB5	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
2	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
3	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
4	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
8	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
10	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:65232200-65274200	Weak transcription	Gastric	stomach
12	chr14:65232600-65242600	Strong transcription	K562	blood
13	chr14:65233000-65265600	Weak transcription	Fetal Brain Male	brain
14	chr14:65233600-65242400	Strong transcription	Left Ventricle	heart
15	chr14:65234800-65241000	Weak transcription	Spleen	Spleen
16	chr14:65237000-65242600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:65237200-65240000	Strong transcription	Fetal Muscle Leg	muscle
18	chr14:65237400-65242400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:65237800-65240200	Strong transcription	Pancreatic Islets	Pancreatic Islet
20	chr14:65238400-65241400	Strong transcription	Fetal Brain Female	brain
21	chr14:65238800-65240200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:65239200-65240800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:65239200-65242400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:65239400-65240200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr14:65239400-65240400	Strong transcription	Brain Hippocampus Middle	brain
26	chr14:65239600-65240000	Strong transcription	Fetal Heart	heart
27	chr14:65239600-65240400	Enhancers	Hela-S3	cervix
28	chr14:65239600-65240600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:65239800-65240600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:65239800-65242200	ZNF genes & repeats	Brain Germinal Matrix	brain

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