Variant report

Variant	rs4739396
Chromosome Location	chr8:35095034-35095035
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10101683	0.98[ASN][1000 genomes]
rs1554859	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2056761	0.90[ASN][1000 genomes]
rs3115002	0.91[ASN][1000 genomes]
rs4613991	0.81[AMR][1000 genomes];0.87[ASN][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	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831284	chr8:35018419-35193084	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv429910	chr8:35021411-35257445	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4739396	ASH2L	cis	parietal	SCAN
rs4739396	UNC5D	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35092400-35095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:35092400-35095200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:35092400-35095200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr8:35092400-35095600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr8:35092400-35095600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr8:35092400-35096200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr8:35092600-35095200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr8:35092600-35095200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:35092600-35095400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:35092800-35095200	Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr8:35094000-35095200	Active TSS	Fetal Brain Female	brain
12	chr8:35094000-35095600	Active TSS	Brain Angular Gyrus	brain
13	chr8:35094000-35095600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:35094000-35096800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:35094400-35096000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
16	chr8:35094600-35095200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr8:35094600-35095400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:35094600-35095400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
19	chr8:35094600-35096000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:35094600-35097400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
21	chr8:35094800-35095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:35094800-35095200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:35094800-35095400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr8:35094800-35095400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
25	chr8:35094800-35095600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr8:35094800-35095600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr8:35094800-35095800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr8:35095000-35095200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:35095000-35095200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr8:35095000-35095200	Active TSS	Fetal Brain Male	brain
31	chr8:35095000-35095400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
32	chr8:35095000-35095400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:35095000-35096000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell

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