Variant report

Variant	rs4930431
Chromosome Location	chr11:67294308-67294309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67285570..67287350-chr11:67292453..67294467,2	K562	blood:
2	chr11:67250152..67252355-chr11:67294280..67297163,2	K562	blood:
3	chr11:67294127..67296248-chr11:67310062..67312505,2	MCF-7	breast:
4	chr11:67289788..67291298-chr11:67292461..67295008,2	MCF-7	breast:
5	chr11:67292879..67295670-chr11:67296775..67299286,2	K562	blood:

Variant related genes	Relation type
ENSG00000110711	Chromatin interaction
ENSG00000167791	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11601325	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs1254119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1695	1.00[JPT][hapmap]
rs1871034	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1871042	0.86[JPT][hapmap]
rs2370141	0.95[CEU][hapmap];0.87[JPT][hapmap]
rs34721562	0.81[EUR][1000 genomes]
rs34802338	0.82[EUR][1000 genomes]
rs4084113	0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs4320958	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4465371	0.86[JPT][hapmap]
rs4891	0.86[JPT][hapmap]
rs4930430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57808037	0.81[ASN][1000 genomes]
rs611663	0.83[CEU][hapmap]
rs6591244	0.81[EUR][1000 genomes]
rs6591245	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591251	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs6591252	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs6591256	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs7106423	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MKK][hapmap]
rs7106675	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7114510	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs749174	0.86[JPT][hapmap]
rs762803	0.95[CEU][hapmap]
rs7934075	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7938563	0.82[EUR][1000 genomes]
rs7941395	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs7941648	0.96[CEU][hapmap];0.88[JPT][hapmap]
rs7952081	0.96[CEU][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap]
rs917570	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs947895	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
6	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
9	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
10	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
11	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
12	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
13	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
14	esv3391752	chr11:67293176-67297174	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4930431	NDUFV1	cis	parietal	SCAN
rs4930431	ATG2A	cis	parietal	SCAN
rs4930431	GSTP1	cis	parietal	SCAN
rs4930431	NUDT8	cis	Heart Left Ventricle	GTEx
rs4930431	NRXN2	cis	cerebellum	SCAN
rs4930431	GSTP1	cis	Esophagus Muscularis	GTEx
rs4930431	RPS6KB2	cis	lymphoblastoid	seeQTL
rs4930431	TBC1D10C	cis	parietal	SCAN
rs4930431	PTPRCAP	cis	Nerve Tibial	GTEx
rs4930431	SLC29A2	cis	parietal	SCAN
rs4930431	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx
rs4930431	GSTP1	cis	cerebellum	SCAN
rs4930431	RTN3	cis	parietal	SCAN
rs4930431	RPS6KB2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67292800-67297600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:67294200-67294400	Enhancers	Pancreas	Pancrea
3	chr11:67294200-67297000	Weak transcription	Rectal Mucosa Donor 29	rectum

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