Variant report

Variant	rs1919713
Chromosome Location	chr10:49511491-49511492
allele	A/G
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	EBF1	chr10:49511142-49511788	GM12878	blood:	n/a	chr10:49511624-49511634 chr10:49511623-49511636 chr10:49511625-49511634

No.	Distal block	Cell Line	Cell type
1	chr10:49502225..49505206-chr10:49511176..49513041,2	MCF-7	breast:
2	chr10:49507404..49509732-chr10:49510277..49512510,2	K562	blood:
3	chr10:49509543..49512452-chr10:49513184..49514985,2	K562	blood:
4	chr10:49504955..49507590-chr10:49509692..49512990,3	MCF-7	breast:
5	chr10:49506365..49508904-chr10:49509611..49511777,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10218874	0.81[ASN][1000 genomes]
rs10437448	0.88[ASN][1000 genomes]
rs10508901	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10508903	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs10745266	0.81[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10745269	0.86[ASN][1000 genomes]
rs10745270	0.81[ASN][1000 genomes]
rs10776592	0.81[ASN][1000 genomes]
rs10776593	0.81[ASN][1000 genomes]
rs10776594	0.81[ASN][1000 genomes]
rs10776595	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10776596	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs10776598	0.83[ASN][1000 genomes]
rs10857560	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs10857561	0.89[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.87[ASN][1000 genomes]
rs11101290	0.86[ASN][1000 genomes]
rs11101306	0.81[ASN][1000 genomes]
rs11101318	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11101320	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12411830	0.89[JPT][hapmap]
rs1345103	0.81[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1881741	0.82[CHB][hapmap]
rs1919706	0.81[ASN][1000 genomes]
rs1919708	0.85[ASN][1000 genomes]
rs1919709	0.81[ASN][1000 genomes]
rs1919712	0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2017750	0.81[CHD][hapmap]
rs2263102	0.82[ASN][1000 genomes]
rs2289805	0.81[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs2440861	0.88[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];0.87[ASN][1000 genomes]
rs2463959	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2463960	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs2590381	0.82[ASN][1000 genomes]
rs2698761	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs2698766	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2698767	0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs2889611	0.90[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap]
rs2921271	0.92[ASN][1000 genomes]
rs3827680	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs3950310	0.85[ASN][1000 genomes]
rs4838405	0.81[ASN][1000 genomes]
rs4838590	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs61840543	0.83[ASN][1000 genomes]
rs6537560	0.85[ASN][1000 genomes]
rs6537561	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7072515	0.85[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7075976	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs7076214	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086070	0.86[ASN][1000 genomes]
rs7086275	0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7101060	0.85[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs734371	0.80[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7912697	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8428	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs867631	0.85[ASN][1000 genomes]
rs883604	0.85[ASN][1000 genomes]
rs9284	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9888128	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]

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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1919713	ARHGAP22	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49496400-49514200	Weak transcription	Right Atrium	heart
2	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr10:49508800-49514000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:49508800-49514000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:49508800-49514000	Weak transcription	Dnd41	blood
6	chr10:49509200-49513800	Weak transcription	Brain Angular Gyrus	brain
7	chr10:49509200-49514000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:49509200-49514000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr10:49509200-49514000	Weak transcription	Brain Anterior Caudate	brain
10	chr10:49509200-49514000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:49510000-49512000	Enhancers	GM12878-XiMat	blood
12	chr10:49511400-49514000	Weak transcription	K562	blood
13	chr10:49511400-49514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links