Variant report

Variant	rs979814
Chromosome Location	chr9:93106543-93106544
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	chr9:93102527..93105084-chr9:93106529..93108300,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10993076	0.81[EUR][1000 genomes]
rs1329092	0.85[EUR][1000 genomes]
rs35941174	0.85[EUR][1000 genomes]
rs4604578	0.85[EUR][1000 genomes]
rs7038972	0.85[EUR][1000 genomes]
rs7044957	0.85[EUR][1000 genomes]
rs979815	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs979816	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051180	chr9:92869383-93141038	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv540169	chr9:92869383-93141038	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1041278	chr9:92965701-93560454	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv893564	chr9:93074228-93116944	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv528155	chr9:93106543-93152717	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs979814	DIRAS2	cis	cerebellum	SCAN
rs979814	NAA35	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93103000-93107600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:93103000-93111400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:93105200-93108400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:93105600-93106600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:93105600-93107200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:93105600-93107200	Enhancers	HMEC	breast
7	chr9:93105600-93107200	Enhancers	HSMMtube	muscle
8	chr9:93105600-93108000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:93105600-93108400	Enhancers	NHEK	skin
10	chr9:93105800-93106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:93105800-93106600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:93105800-93107200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:93106000-93106600	Enhancers	Brain Germinal Matrix	brain
14	chr9:93106000-93106800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr9:93106200-93106600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr9:93106200-93106600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:93106200-93106600	Enhancers	H9 Cell Line	embryonic stem cell
18	chr9:93106200-93106600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:93106200-93106600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:93106200-93106600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:93106200-93106800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:93106200-93107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:93106400-93106800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:93106400-93107000	Weak transcription	HSMM	muscle
25	chr9:93106400-93107200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:93106400-93107600	Weak transcription	Esophagus	oesophagus
27	chr9:93106400-93111800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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