Variant report

Variant	rs11702402
Chromosome Location	chr21:41515825-41515826
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41515577..41516468-chr21:42440690..42441602,4	K562	blood:
2	chr21:41514510..41516179-chr21:42013415..42015762,2	MCF-7	breast:
3	chr21:41512747..41514506-chr21:41514744..41516922,2	MCF-7	breast:
4	chr21:41515472..41516434-chr21:42505589..42506516,2	K562	blood:
5	chr21:41514680..41518758-chr21:41785744..41789812,5	MCF-7	breast:
6	chr21:41510559..41522908-chr21:41685904..41699622,30	MCF-7	breast:
7	chr21:41507356..41527112-chr21:41751014..41762921,70	MCF-7	breast:
8	chr21:41515499..41516372-chr21:42440675..42441654,2	MCF-7	breast:
9	chr21:41513242..41523747-chr21:41704483..41713607,25	MCF-7	breast:
10	chr21:41512480..41518922-chr21:41753940..41761141,21	MCF-7	breast:
11	chr21:41515588..41516399-chr21:41757926..41758551,2	MCF-7	breast:
12	chr21:41515536..41516174-chr21:41788250..41788774,2	MCF-7	breast:
13	chr21:41513708..41516528-chr21:41751354..41753299,2	MCF-7	breast:
14	chr21:41515156..41518019-chr21:41520939..41525508,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235123	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11088509	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11088510	0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11701057	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11701139	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11702152	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11911935	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12151971	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12152005	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12152078	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13046190	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13046360	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13046479	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474493	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1474494	0.85[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2297264	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2297265	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2837452	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2837454	0.85[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2837455	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2837456	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2837459	0.84[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2837460	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818650	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs430433	0.81[MKK][hapmap]
rs4402848	0.85[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9977928	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9978469	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9979184	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9979203	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11702402	B3GALT5	cis	cerebellum	SCAN
rs11702402	MX2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41499000-41517200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:41500600-41516200	Weak transcription	Fetal Brain Male	brain
3	chr21:41500800-41516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr21:41503000-41518400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr21:41505000-41526400	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:41510800-41525800	Weak transcription	Brain Germinal Matrix	brain
7	chr21:41511000-41518600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:41513000-41520600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:41513200-41523200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:41513400-41524400	Weak transcription	Fetal Brain Female	brain
11	chr21:41514200-41518200	Weak transcription	Fetal Muscle Trunk	muscle

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