Variant report

Variant	rs36022378
Chromosome Location	chr3:49913705-49913706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49906989..49909987-chr3:49910807..49914298,3	K562	blood:

Variant related genes	Relation type
ENSG00000164076	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11130222	0.94[ASN][1000 genomes]
rs11709573	0.87[ASN][1000 genomes]
rs11712056	0.98[ASN][1000 genomes]
rs11714324	0.92[ASN][1000 genomes]
rs11721204	0.87[ASN][1000 genomes]
rs13077403	0.84[ASN][1000 genomes]
rs13079006	0.81[ASN][1000 genomes]
rs13082703	0.81[ASN][1000 genomes]
rs17657664	0.81[ASN][1000 genomes]
rs17657688	0.81[ASN][1000 genomes]
rs2352969	0.85[ASN][1000 genomes]
rs2352984	0.86[ASN][1000 genomes]
rs2624821	0.82[ASN][1000 genomes]
rs2624832	0.81[ASN][1000 genomes]
rs2681776	0.81[ASN][1000 genomes]
rs2883059	0.94[ASN][1000 genomes]
rs34034116	0.87[ASN][1000 genomes]
rs34312088	0.81[ASN][1000 genomes]
rs34654589	0.95[ASN][1000 genomes]
rs35275715	0.87[ASN][1000 genomes]
rs3733134	0.87[ASN][1000 genomes]
rs3774759	0.87[ASN][1000 genomes]
rs3796386	0.94[ASN][1000 genomes]
rs55692411	0.92[ASN][1000 genomes]
rs62262114	0.81[ASN][1000 genomes]
rs6774354	0.87[ASN][1000 genomes]
rs7613360	0.98[ASN][1000 genomes]
rs7615206	0.87[ASN][1000 genomes]
rs7626952	0.90[ASN][1000 genomes]
rs7627864	0.90[ASN][1000 genomes]
rs7627910	0.90[ASN][1000 genomes]
rs7648174	0.81[ASN][1000 genomes]
rs868891	0.86[ASN][1000 genomes]
rs952594	0.95[ASN][1000 genomes]
rs9843653	0.81[ASN][1000 genomes]
rs9862795	0.81[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	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36022378	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49910000-49917200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:49910600-49914800	Weak transcription	Fetal Lung	lung
3	chr3:49910600-49916200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:49910800-49914200	Weak transcription	Fetal Brain Male	brain
5	chr3:49911000-49914200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:49911000-49917200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:49911200-49914600	Weak transcription	Fetal Brain Female	brain
8	chr3:49911200-49917200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:49911800-49918600	Weak transcription	Colonic Mucosa	Colon
10	chr3:49912000-49919000	Weak transcription	Spleen	Spleen
11	chr3:49912200-49914600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:49912400-49917800	Weak transcription	Stomach Mucosa	stomach
13	chr3:49912800-49914800	Weak transcription	Fetal Intestine Small	intestine
14	chr3:49913200-49913800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:49913600-49913800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:49913600-49915000	Weak transcription	Fetal Intestine Large	intestine

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