Variant report

Variant	rs11601325
Chromosome Location	chr11:67227006-67227007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr11:67226872-67227730	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
2	chr11:67225990..67228470-chr11:67230116..67233017,3	K562	blood:

Variant related genes	Relation type
ENSG00000269913	TF binding region
ENSG00000172663	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10274	0.89[CEU][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12573992	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12787021	0.89[CEU][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs12799746	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13859	0.87[EUR][1000 genomes]
rs1476792	0.89[CEU][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs1628442	0.89[EUR][1000 genomes]
rs1638555	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1638556	0.89[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs1638557	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1638565	0.83[EUR][1000 genomes]
rs1638588	0.89[CEU][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs1695	0.86[JPT][hapmap]
rs17501521	0.90[GIH][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs1790752	0.89[CEU][hapmap];0.87[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs1790753	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1790761	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1808279	0.86[EUR][1000 genomes]
rs1871034	0.80[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs1871042	1.00[JPT][hapmap]
rs1893973	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2109123	0.87[EUR][1000 genomes]
rs2276118	0.89[TSI][hapmap]
rs2276120	0.92[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2302264	0.89[CEU][hapmap];0.94[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35787427	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36089024	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3741168	0.89[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs4084113	0.80[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4320958	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs4465371	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs4891	1.00[JPT][hapmap]
rs4930427	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4930430	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap]
rs4930431	0.84[CEU][hapmap];0.83[CHB][hapmap];0.85[CHD][hapmap];0.86[JPT][hapmap];0.80[TSI][hapmap]
rs57859022	0.82[ASN][1000 genomes]
rs595130	0.88[EUR][1000 genomes]
rs61889868	0.88[EUR][1000 genomes]
rs630172	0.89[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs6591245	0.84[CEU][hapmap];0.86[JPT][hapmap]
rs6591251	0.80[CEU][hapmap]
rs6591252	0.80[CEU][hapmap]
rs6591256	0.80[CEU][hapmap]
rs7106423	0.80[CEU][hapmap];0.86[JPT][hapmap]
rs7110021	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7114510	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131041	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7479801	0.89[CEU][hapmap];0.94[GIH][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs749174	1.00[JPT][hapmap]
rs762803	0.82[CEU][hapmap]
rs7941395	0.80[CEU][hapmap]
rs7941648	0.80[CEU][hapmap]
rs7952081	0.80[CEU][hapmap]
rs869736	0.89[CEU][hapmap];0.94[GIH][hapmap];0.83[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs872375	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs917570	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs947895	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
7	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
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	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
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	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
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	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
21	esv1813337	chr11:67217703-67235815	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
22	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	nsv528976	chr11:67224988-67227006	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs11601325	CABP2	cis	parietal	SCAN
rs11601325	GSTP1	cis	parietal	SCAN
rs11601325	PTPRCAP	cis	cerebellum	SCAN
rs11601325	GSTP1	cis	cerebellum	SCAN
rs11601325	PTPRCAP	cis	Nerve Tibial	GTEx
rs11601325	PTPRCAP	cis	Artery Tibial	GTEx
rs11601325	PTPRCAP	cis	Heart Left Ventricle	GTEx
rs11601325	RPS6KB2	cis	multi-tissue	Pritchard
rs11601325	NDUFV1	cis	parietal	SCAN
rs11601325	RPS6KB2	cis	lymphoblastoid	seeQTL
rs11601325	SYVN1	cis	parietal	SCAN
rs11601325	AP003419.16	cis	Heart Left Ventricle	GTEx
rs11601325	CORO1B	cis	cerebellum	SCAN
rs11601325	PTPRCAP	cis	Esophagus Muscularis	GTEx
rs11601325	ATG2A	cis	parietal	SCAN
rs11601325	UNC93B1	cis	parietal	SCAN
rs11601325	NRXN2	cis	cerebellum	SCAN
rs11601325	CDC42EP2	cis	parietal	SCAN
rs11601325	RPS6KB2	cis	Lymphoblastoid	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
2	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
5	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
6	chr11:67219000-67231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:67220400-67231400	Weak transcription	Gastric	stomach
8	chr11:67220400-67231400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:67220400-67231400	Weak transcription	Right Ventricle	heart
10	chr11:67221400-67230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:67222400-67227200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:67223600-67231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:67225800-67227200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:67226200-67231000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:67226400-67230600	Weak transcription	Spleen	Spleen
16	chr11:67226800-67227200	Flanking Active TSS	GM12878-XiMat	blood
17	chr11:67226800-67227400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:67226800-67227600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:67226800-67228000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr11:67226800-67228000	Enhancers	Primary hematopoietic stem cells	blood
21	chr11:67227000-67227600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:67227000-67227600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:67227000-67228000	Enhancers	Primary monocytes fromperipheralblood	blood

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