Variant report

Variant	rs3788440
Chromosome Location	chr22:32332118-32332119
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32264718-32278135..22:32330155-32334260	H1-hESC	embryonic stem cell:	embryo
2	chr22:32328831..32330613-chr22:32331396..32333711,2	K562	blood:
3	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
4	chr22:32148816..32150542-chr22:32331057..32333346,2	K562	blood:
5	22:31864703-31891033..22:32330155-32334260	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000128254	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12159340	1.00[YRI][hapmap]
rs12167681	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs130256	0.93[CEU][hapmap]
rs130257	1.00[CEU][hapmap]
rs130264	0.93[CEU][hapmap]
rs130405	0.94[CEU][hapmap]
rs3761432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3827334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6518758	0.93[CEU][hapmap]
rs738181	0.93[CEU][hapmap]
rs933226	0.94[CEU][hapmap]
rs9606893	0.93[CEU][hapmap]
rs9606907	0.80[CEU][hapmap]
rs9606908	0.81[CEU][hapmap]
rs9609389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609390	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9609409	0.94[CEU][hapmap]
rs9609427	0.80[CEU][hapmap]
rs9621386	0.80[CEU][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	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3788440	YWHAH	cis	cerebellar cortex	BrainEAC

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32304400-32339600	Weak transcription	Brain Germinal Matrix	brain
2	chr22:32319600-32338000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:32325200-32338800	Weak transcription	Fetal Thymus	thymus
4	chr22:32326000-32332200	Weak transcription	Brain Angular Gyrus	brain
5	chr22:32326000-32339600	Weak transcription	Fetal Lung	lung
6	chr22:32326400-32339200	Weak transcription	Fetal Stomach	stomach
7	chr22:32329200-32339600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:32329400-32332400	Weak transcription	Lung	lung
9	chr22:32329600-32333600	Enhancers	Placenta	Placenta
10	chr22:32330400-32339400	Weak transcription	Pancreas	Pancrea
11	chr22:32330600-32333200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr22:32331000-32332200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr22:32331000-32333200	Enhancers	K562	blood
14	chr22:32331200-32332800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr22:32331200-32339600	Weak transcription	Brain Substantia Nigra	brain
16	chr22:32331400-32332600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr22:32331400-32332600	Weak transcription	Fetal Brain Male	brain
18	chr22:32331800-32333000	Enhancers	Fetal Muscle Leg	muscle
19	chr22:32332000-32332200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:32332000-32332200	Enhancers	Brain Cingulate Gyrus	brain
21	chr22:32332000-32332200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr22:32332000-32332200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:32332000-32332200	Bivalent Enhancer	HepG2	liver
24	chr22:32332000-32332400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr22:32332000-32332400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32332000-32332400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr22:32332000-32332400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr22:32332000-32332400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr22:32332000-32332400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr22:32332000-32332600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:32332000-32332600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:32332000-32332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr22:32332000-32332600	Enhancers	Left Ventricle	heart
34	chr22:32332000-32332800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr22:32332000-32332800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr22:32332000-32332800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:32332000-32332800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr22:32332000-32333000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr22:32332000-32334200	Enhancers	Fetal Heart	heart
40	chr22:32332000-32334400	Active TSS	Fetal Brain Female	brain

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