Variant report

Variant	rs4902293
Chromosome Location	chr14:65031572-65031573
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65026787..65029450-chr14:65030177..65032001,2	K562	blood:
2	chr14:65024435..65026477-chr14:65030670..65033087,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs10133855	0.85[CEU][hapmap]
rs10782452	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10873174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11622168	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11622941	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12323845	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435904	0.91[CHB][hapmap]
rs12436296	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1256142	0.85[CEU][hapmap]
rs1256144	0.81[EUR][1000 genomes]
rs12884911	1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13329053	0.85[CEU][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs1453008	0.85[EUR][1000 genomes]
rs1542313	0.85[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs17113846	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1742159	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs17824845	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1950302	0.91[CHB][hapmap]
rs1956419	0.91[CHB][hapmap]
rs2038271	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742604	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902291	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573560	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66939314	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7143298	0.91[CHB][hapmap]
rs7152440	0.86[EUR][1000 genomes]
rs761546	0.84[EUR][1000 genomes]
rs9944101	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4902293	ZBTB1	cis	cerebellum	SCAN
rs4902293	ZBTB25	cis	cerebellum	SCAN
rs4902293	MPP5	cis	parietal	SCAN
rs4902293	SIX1	cis	cerebellum	SCAN
rs4902293	ZBTB25	cis	multi-tissue	Pritchard

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65021400-65033400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:65021600-65047600	Weak transcription	Pancreas	Pancrea
3	chr14:65023400-65033400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr14:65028000-65033400	Weak transcription	Psoas Muscle	Psoas
5	chr14:65028200-65031600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:65028200-65033400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:65028200-65033400	Weak transcription	A549	lung
8	chr14:65028200-65039400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr14:65028400-65033400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:65028400-65033400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:65028800-65033400	Weak transcription	Hela-S3	cervix
12	chr14:65029200-65031800	Enhancers	Brain Anterior Caudate	brain
13	chr14:65029200-65032200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr14:65029200-65033200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:65029200-65033200	Enhancers	Brain Substantia Nigra	brain
16	chr14:65029200-65035800	Weak transcription	Placenta	Placenta
17	chr14:65029400-65033200	Weak transcription	Adipose Nuclei	Adipose
18	chr14:65029400-65033200	Weak transcription	Right Atrium	heart
19	chr14:65029400-65035600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:65029400-65039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:65030200-65031600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:65030400-65033200	Weak transcription	Brain Angular Gyrus	brain
23	chr14:65030600-65032400	Enhancers	Brain Cingulate Gyrus	brain
24	chr14:65030600-65033200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:65030600-65033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:65030600-65039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65030800-65033200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:65030800-65033400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:65030800-65034600	Enhancers	Brain Hippocampus Middle	brain
30	chr14:65031000-65033200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:65031000-65033200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:65031000-65035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:65031000-65035800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:65031000-65039000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:65031200-65033400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:65031400-65031600	Enhancers	HUES48 Cell Line	embryonic stem cell

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