Variant report

Variant	rs5994370
Chromosome Location	chr22:31470842-31470843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31363626..31365762-chr22:31470443..31472227,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10427701	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10854603	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11705177	0.97[ASN][1000 genomes]
rs11705250	0.97[ASN][1000 genomes]
rs11705313	0.97[ASN][1000 genomes]
rs11705396	0.86[ASN][1000 genomes]
rs12157450	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12157641	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs12158536	0.85[YRI][hapmap]
rs12165471	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12168052	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12170984	0.97[ASN][1000 genomes]
rs12330058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053618	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13057068	0.97[ASN][1000 genomes]
rs2006301	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2074737	0.81[EUR][1000 genomes]
rs35060453	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753456	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs5994365	0.90[ASN][1000 genomes]
rs5994366	1.00[JPT][hapmap]
rs5994368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997863	0.97[ASN][1000 genomes]
rs5997864	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs5997866	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs5997871	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5997872	0.85[ASN][1000 genomes]
rs715297	1.00[JPT][hapmap]
rs7284593	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7285683	1.00[JPT][hapmap]
rs7291565	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7292038	0.97[ASN][1000 genomes]
rs7292982	0.84[ASN][1000 genomes]
rs736901	1.00[JPT][hapmap]
rs9619166	0.98[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9619167	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9621175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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
2	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	esv20214	chr22:31461316-31474644	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1000178	chr22:31461678-31474550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5994370	MORC2-AS1	cis	Nerve Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31465400-31471600	Weak transcription	Fetal Intestine Large	intestine
2	chr22:31465800-31475000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:31466200-31471800	Weak transcription	Osteobl	bone
4	chr22:31466200-31472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:31466400-31471800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:31466400-31471800	Weak transcription	NHEK	skin
7	chr22:31467800-31471800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31468000-31471800	Weak transcription	Right Atrium	heart
9	chr22:31469800-31472600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr22:31469800-31476400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:31469800-31476400	Weak transcription	HUVEC	blood vessel
12	chr22:31470000-31471400	Weak transcription	Adipose Nuclei	Adipose
13	chr22:31470200-31475000	Weak transcription	Spleen	Spleen
14	chr22:31470600-31471400	Enhancers	Left Ventricle	heart
15	chr22:31470600-31471800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:31470800-31472600	Enhancers	Fetal Muscle Leg	muscle

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