Variant report

Variant	rs2804938
Chromosome Location	chr10:50365546-50365547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50351001..50354708-chr10:50363715..50366252,3	K562	blood:
2	chr10:50364786..50371686-chr10:50371829..50376692,10	K562	blood:
3	chr10:50363975..50366522-chr10:50367488..50370689,4	K562	blood:
4	chr10:50339347..50342012-chr10:50362966..50365728,2	K562	blood:
5	chr10:50343720..50346032-chr10:50362961..50365747,2	K562	blood:

Variant related genes	Relation type
ENSG00000234736	Chromatin interaction
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10218995	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs12198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12255055	0.83[JPT][hapmap]
rs12771123	0.86[ASN][1000 genomes]
rs2002728	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2466744	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2466748	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs2466756	0.80[CHD][hapmap]
rs2490836	0.86[ASN][1000 genomes]
rs2490837	0.95[ASN][1000 genomes]
rs2725180	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2725183	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2725186	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2725187	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2804933	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2804935	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2804936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2804939	0.81[CHD][hapmap]
rs2804942	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35307207	0.95[ASN][1000 genomes]
rs35351786	0.95[ASN][1000 genomes]
rs4317904	0.84[GIH][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4319434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4319435	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4421674	0.80[TSI][hapmap];0.82[EUR][1000 genomes]
rs6537499	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7073645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7094217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73304790	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2804938	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50359200-50375400	Weak transcription	Right Atrium	heart
3	chr10:50359400-50373400	Weak transcription	Right Ventricle	heart
4	chr10:50359400-50374000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:50362200-50370600	Weak transcription	Spleen	Spleen
6	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:50363200-50365600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:50364600-50365600	Enhancers	Fetal Thymus	thymus
9	chr10:50364600-50365800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:50364800-50365800	Enhancers	K562	blood
11	chr10:50365200-50365600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr10:50365200-50365800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:50365200-50367600	Enhancers	Dnd41	blood
14	chr10:50365200-50368600	Weak transcription	Adipose Nuclei	Adipose
15	chr10:50365400-50366400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:50365400-50366400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr10:50365400-50374800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:50365400-50374800	Weak transcription	Lung	lung

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