Variant report

Variant	rs8081812
Chromosome Location	chr17:60181783-60181784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59934687..59936863-chr17:60180347..60181885,2	MCF-7	breast:
2	chr17:60171034..60173944-chr17:60180314..60182987,2	MCF-7	breast:
3	chr17:60171082..60173019-chr17:60180018..60181972,2	MCF-7	breast:
4	chr17:60141564..60144879-chr17:60179169..60182573,3	MCF-7	breast:
5	chr17:60162660..60165107-chr17:60181643..60183994,2	K562	blood:
6	chr17:60140586..60145534-chr17:60180538..60185303,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10512493	0.84[JPT][hapmap]
rs11079461	0.95[EUR][1000 genomes]
rs11079464	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11649711	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11869921	0.84[JPT][hapmap]
rs11870331	0.85[EUR][1000 genomes]
rs12450995	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs4456566	0.91[EUR][1000 genomes]
rs4493126	0.95[EUR][1000 genomes]
rs4968410	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs4968469	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs4968473	0.85[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs4968477	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58046762	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6416935	0.87[AFR][1000 genomes]
rs6504077	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap]
rs6504079	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap]
rs6504084	0.92[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs67274807	0.95[EUR][1000 genomes]
rs7207930	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap]
rs7210244	0.87[AFR][1000 genomes]
rs72845411	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845416	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845417	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72845418	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8067362	0.87[AFR][1000 genomes]
rs8072101	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap]
rs8076927	0.84[JPT][hapmap]
rs8081599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303455	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9889324	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs9889676	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9902812	0.87[TSI][hapmap]
rs9908352	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs9912042	0.84[JPT][hapmap]
rs9913443	0.86[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv527199	chr17:60177504-60181783	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8081812	MRPS23	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60174000-60182200	Weak transcription	Aorta	Aorta
2	chr17:60176800-60182200	Weak transcription	K562	blood
3	chr17:60178200-60186800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:60179400-60186600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:60179600-60182400	Weak transcription	Fetal Intestine Large	intestine
6	chr17:60179600-60182400	Weak transcription	Fetal Intestine Small	intestine
7	chr17:60179600-60183400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:60179800-60182600	Weak transcription	Liver	Liver
9	chr17:60181000-60182400	Weak transcription	HepG2	liver

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