Variant report

Variant	rs3948685
Chromosome Location	chr22:31382766-31382767
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31381773..31383652-chr22:31385424..31388116,2	MCF-7	breast:
2	chr22:31372290..31374024-chr22:31382614..31385512,2	K562	blood:
3	chr22:31369032..31371901-chr22:31381696..31383257,2	K562	blood:
4	chr22:31378816..31383088-chr22:31474878..31478624,4	MCF-7	breast:
5	chr22:31363045..31367376-chr22:31378026..31383463,6	K562	blood:
6	chr22:31375745..31378647-chr22:31380130..31383422,4	K562	blood:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000269972	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10854601	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11089484	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11703597	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1807686	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2016654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2019171	0.83[EUR][1000 genomes]
rs2019182	0.81[EUR][1000 genomes]
rs2072132	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2079221	0.90[EUR][1000 genomes]
rs2240175	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240176	0.81[EUR][1000 genomes]
rs2240177	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240179	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2240180	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240183	0.96[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3747151	0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3788426	0.96[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804084	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3804085	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs3827330	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820916	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4820921	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820923	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820925	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820926	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5749185	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs5749189	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs5749192	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5749199	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5749201	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753383	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5753386	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5753389	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753394	0.96[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753396	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753407	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753408	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753410	0.96[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5997802	0.80[EUR][1000 genomes]
rs5997807	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5997830	0.92[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997838	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5997843	0.82[EUR][1000 genomes]
rs6518726	0.82[EUR][1000 genomes]
rs6518729	0.86[EUR][1000 genomes]
rs722683	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs722684	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7284767	0.96[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7289831	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7290078	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7291199	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7291361	0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7291471	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs737924	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs737926	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs737927	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs739896	0.96[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8004	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8135974	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9609183	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9609185	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9609188	0.85[EUR][1000 genomes]
rs9609193	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3948685	TUG1	Cis_1M	lymphoblastoid	RTeQTL
rs3948685	MORC2-AS1	cis	Thyroid	GTEx
rs3948685	MORC2-AS1	cis	Nerve Tibial	GTEx
rs3948685	MORC2-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31374400-31384000	Weak transcription	HSMMtube	muscle
2	chr22:31381000-31385200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr22:31382400-31384000	Weak transcription	HepG2	liver

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