Variant report

Variant	rs9323450
Chromosome Location	chr14:64927967-64927968
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	POLR2A	chr14:64927944-64928252	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:64927628-64931783	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:64927815-64928485	GM12892	blood:	n/a	n/a
4	POLR2A	chr14:64927693-64928366	K562	blood:	n/a	n/a
5	POLR2A	chr14:64927822-64928439	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64927345..64929769-chr14:64971489..64974207,3	MCF-7	breast:
2	chr14:64927965..64930102-chr14:64970842..64972801,2	K562	blood:

Variant related genes	Relation type
ENSG00000272828	TF binding region
AKAP5	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10131416	1.00[CEU][hapmap]
rs10133696	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs10134530	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10136732	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10142879	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10145013	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs11158542	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11625265	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs11627122	0.83[ASN][1000 genomes]
rs11627387	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs12050238	1.00[CEU][hapmap]
rs12050358	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs1453007	1.00[CEU][hapmap]
rs1470851	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs1980520	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2045024	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2123459	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2123460	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs2198347	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs28766386	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs3742606	1.00[CEU][hapmap];0.85[TSI][hapmap]
rs3783725	0.82[ASN][1000 genomes]
rs6573559	1.00[CEU][hapmap];0.82[TSI][hapmap]
rs7160131	0.82[CEU][hapmap]
rs745686	0.87[CHB][hapmap];0.88[CHD][hapmap];0.90[MEX][hapmap];0.89[ASN][1000 genomes]
rs8016556	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs8022545	0.82[ASN][1000 genomes]
rs926803	0.81[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902022	chr14:64926581-64958638	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9323450	ZBTB25	cis	multi-tissue	Pritchard
rs9323450	ZBTB25	cis	Nerve Tibial	GTEx
rs9323450	ZBTB25	cis	lung	GTEx
rs9323450	ZBTB25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64856200-64931200	Weak transcription	Stomach Mucosa	stomach
2	chr14:64861800-64931600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:64867200-64929600	Strong transcription	Dnd41	blood
4	chr14:64874000-64928400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:64877000-64929400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:64877400-64928200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:64877800-64929200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:64881600-64929000	Strong transcription	Fetal Thymus	thymus
9	chr14:64891200-64928600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:64900400-64931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr14:64905800-64931400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:64910600-64931200	Weak transcription	Fetal Heart	heart
13	chr14:64911200-64931400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:64911800-64931400	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:64912200-64929600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:64912400-64930200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:64912600-64929600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:64913400-64929600	Strong transcription	Fetal Stomach	stomach
19	chr14:64913600-64929000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr14:64913600-64929200	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:64913800-64931200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:64915000-64931000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:64915400-64929800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:64915400-64931200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:64917400-64930800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:64918400-64928200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:64920000-64929600	Strong transcription	Fetal Muscle Leg	muscle
28	chr14:64920200-64928200	Strong transcription	Hela-S3	cervix
29	chr14:64920800-64931400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64921000-64931200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:64921000-64931200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:64921600-64928600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:64921600-64929800	Strong transcription	Liver	Liver
34	chr14:64921600-64931400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:64921800-64930800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:64921800-64931400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr14:64922200-64931200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr14:64922200-64931200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:64922200-64931200	Weak transcription	Spleen	Spleen
40	chr14:64922200-64931400	Weak transcription	Colonic Mucosa	Colon
41	chr14:64922200-64931400	Weak transcription	Lung	lung
42	chr14:64922400-64931400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:64922400-64931400	Weak transcription	Brain Substantia Nigra	brain
44	chr14:64922600-64931200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr14:64922600-64931400	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:64922800-64931400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:64922800-64931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr14:64923000-64928800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:64923000-64930600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:64923000-64931200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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