Variant report

Variant	rs905770
Chromosome Location	chr11:66156765-66156766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66156562-66156778	GM20000	blood:	n/a	n/a
2	SMC3	chr11:66156496-66156819	K562	blood:	n/a	n/a
3	RAD21	chr11:66156422-66156832	HepG2	liver:	n/a	n/a
4	MAZ	chr11:66156553-66156787	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:66156544-66156765	K562	blood:	n/a	n/a
6	RAD21	chr11:66156277-66156901	HCT-116	colon:	n/a	n/a
7	CTCF	chr11:66156372-66156850	K562	blood:	n/a	n/a
8	ZNF143	chr11:66156481-66156843	GM12878	blood:	n/a	n/a
9	CTCF	chr11:66156535-66156805	Spleen_OC	spleen:	n/a	n/a
10	CTCF	chr11:66156620-66156770	SAEC	small airway:	n/a	n/a
11	CTCF	chr11:66156535-66156790	GM13977	blood:	n/a	n/a
12	RCOR1	chr11:66156548-66156790	GM12878	blood:	n/a	n/a
13	CTCF	chr11:66156620-66156770	HCT-116	colon:	n/a	n/a
14	RCOR1	chr11:66156523-66156783	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr11:66156481-66156822	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr11:66156620-66156770	AoAF	blood vessel:	n/a	n/a
17	RAD21	chr11:66156366-66156874	A549	lung:	n/a	n/a
18	CTCF	chr11:66156515-66156786	GM19240	blood:	n/a	n/a
19	MAZ	chr11:66156475-66156808	K562	blood:	n/a	n/a
20	RAD21	chr11:66156516-66156824	HepG2	liver:	n/a	n/a
21	CTCF	chr11:66156414-66156859	T-47D	breast:	n/a	n/a
22	CTCF	chr11:66156155-66157068	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr11:66156226-66156913	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr11:66156533-66156773	Fibrobl	skin:	n/a	n/a
25	SMC3	chr11:66156505-66156821	GM12878	blood:	n/a	n/a
26	CTCF	chr11:66156512-66156766	MCF-7	breast:	n/a	n/a
27	CTCF	chr11:66156528-66156805	GM10266	blood:	n/a	n/a
28	CTCF	chr11:66156442-66156815	K562	blood:	n/a	n/a
29	CTCF	chr11:66156620-66156770	RPTEC	kidney:	n/a	n/a
30	CTCF	chr11:66156393-66156813	MCF-7	breast:	n/a	n/a
31	CTCF	chr11:66156620-66156770	GM06990	blood:	n/a	n/a
32	CTCF	chr11:66156546-66156777	GM19239	blood:	n/a	n/a
33	YY1	chr11:66156377-66156945	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr11:66156530-66156838	ECC-1	luminal epithelium:	n/a	n/a
35	RFX5	chr11:66156506-66156835	Hela-S3	cervix:	n/a	n/a
36	WRNIP1	chr11:66156510-66156780	GM12878	blood:	n/a	n/a
37	CTCF	chr11:66156531-66156811	ECC-1	luminal epithelium:	n/a	n/a
38	CTCF	chr11:66156640-66156790	RPTEC	kidney:	n/a	n/a
39	CTCF	chr11:66156520-66156795	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr11:66156500-66156790	HAc	cerebellar:	n/a	n/a
41	RAD21	chr11:66156446-66156829	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr11:66156344-66156900	MCF-7	breast:	n/a	n/a
43	JUND	chr11:66156524-66156775	K562	blood:	n/a	n/a
44	RAD21	chr11:66156363-66156875	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr11:66156514-66156788	ProgFib	skin:	n/a	n/a
46	CTCF	chr11:66156525-66156791	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:66156620-66156770	GM12865	blood:	n/a	n/a
48	CTCF	chr11:66156494-66156776	MCF-7	breast:	n/a	n/a
49	RAD21	chr11:66156471-66156838	GM12878	blood:	n/a	n/a
50	MAX	chr11:66156481-66156826	NB4	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66137544..66141665-chr11:66155643..66157959,3	MCF-7	breast:
2	chr11:66138351..66141046-chr11:66154511..66157251,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254736	TF binding region
RNU1-84P	TF binding region
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1039594	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1047029	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10750784	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10791869	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10791872	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791876	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10896111	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896112	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896115	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896116	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227465	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11601396	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11823140	0.96[CEU][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs12416747	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12576299	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577196	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12577917	0.81[JPT][hapmap]
rs12785321	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12785651	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12786563	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12794121	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546358	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1784029	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs1785633	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1785639	0.96[CEU][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs1892940	1.00[CEU][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2236679	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2279861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2279862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2282530	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2282531	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs3016767	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3177514	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34043951	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4244813	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4466842	0.88[CEU][hapmap]
rs4930177	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930179	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930181	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930360	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930362	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930363	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930366	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930368	0.96[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55998145	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123976	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56321771	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61891449	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6591213	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591215	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591217	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66810040	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67780191	0.82[ASN][1000 genomes]
rs7104253	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104570	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7105015	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7105401	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7107191	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110944	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7117630	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126018	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73489638	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938676	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7939111	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940980	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs947978	1.00[CEU][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs905770	OVOL1	cis	parietal	SCAN
rs905770	ESRRA	cis	cerebellum	SCAN
rs905770	SLC25A45	cis	parietal	SCAN
rs905770	ASRGL1	cis	parietal	SCAN
rs905770	SNX32	cis	parietal	SCAN
rs905770	RIN1	cis	Whole Blood	GTEx
rs905770	CCDC87	cis	parietal	SCAN
rs905770	ALDH3B1	cis	parietal	SCAN
rs905770	RIN1	cis	multi-tissue	Pritchard

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66154200-66158400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:66154200-66161400	Weak transcription	A549	lung
3	chr11:66156200-66156800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:66156200-66156800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:66156200-66156800	Enhancers	Placenta	Placenta
6	chr11:66156200-66156800	Enhancers	Hela-S3	cervix
7	chr11:66156400-66156800	Enhancers	Skeletal Muscle Male	skeletal muscle

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