Variant report

Variant	rs31036
Chromosome Location	chr5:146615260-146615261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:146614236-146615309	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr5:146613995-146615341	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
ENSG00000250343	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10875620	0.84[ASN][1000 genomes]
rs11167971	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11167981	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1368283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1978705	0.84[ASN][1000 genomes]
rs2895680	0.86[JPT][hapmap]
rs31037	0.97[ASN][1000 genomes]
rs4705030	0.95[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4705137	0.90[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7736308	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv883014	chr5:146557552-146615260	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs31036	RBM22	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146613400-146616000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:146613600-146615400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:146613600-146615400	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr5:146613600-146616000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:146614400-146615800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:146614400-146617800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:146614600-146615400	Bivalent/Poised TSS	Fetal Brain Male	brain
8	chr5:146614800-146615400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:146614800-146617800	Weak transcription	Gastric	stomach
10	chr5:146615000-146615400	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:146615000-146617800	Weak transcription	Pancreas	Pancrea
12	chr5:146615000-146618400	Weak transcription	Esophagus	oesophagus
13	chr5:146615000-146620800	Weak transcription	Psoas Muscle	Psoas
14	chr5:146615000-146621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:146615200-146615400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr5:146615200-146615400	Bivalent Enhancer	Brain Substantia Nigra	brain
17	chr5:146615200-146615400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
18	chr5:146615200-146615400	Enhancers	Stomach Smooth Muscle	stomach
19	chr5:146615200-146615800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr5:146615200-146615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:146615200-146621400	Weak transcription	Aorta	Aorta

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