Variant report

Variant	rs6571990
Chromosome Location	chr14:22141347-22141348
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	chr14:22140885..22141748-chr5:66767836..66768488,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10138379	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10138803	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];0.92[YRI][hapmap]
rs10143044	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap]
rs10145663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10146733	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs10147663	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10151604	0.86[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11157092	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs11157094	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12435524	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs12436422	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs12717305	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2204931	0.87[ASN][1000 genomes]
rs3748364	0.81[CHB][hapmap]
rs4982482	0.81[CHB][hapmap];0.82[CHD][hapmap];0.89[JPT][hapmap]
rs4982483	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6571976	0.84[JPT][hapmap]
rs7144733	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs8008166	0.81[CHD][hapmap];0.84[JPT][hapmap]
rs8013567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][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	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
3	nsv456147	chr14:22073473-22305071	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv563851	chr14:22073473-22305071	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv901479	chr14:22102800-22146832	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv510629	chr14:22134425-22215842	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6571990	RNASE10	cis	cerebellum	SCAN
rs6571990	HAUS4	cis	parietal	SCAN
rs6571990	ADAMTS9	trans	cerebellum	SCAN
rs6571990	OR4K17	cis	cerebellum	SCAN
rs6571990	RIPK3	cis	cerebellum	SCAN
rs6571990	CCNB1IP1	cis	parietal	SCAN
rs6571990	NRL	cis	cerebellum	SCAN
rs6571990	EDDM3B	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
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