Variant report

Variant	rs11110
Chromosome Location	chr11:66206169-66206170
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	PML	chr11:66205924-66206854	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:66205755-66206635	GM12891	blood:	n/a	n/a
3	CTCF	chr11:66205576-66207303	SK-N-SH	brain:	n/a	chr11:66206606-66206619 chr11:66206605-66206621 chr11:66206604-66206622
4	POLR2A	chr11:66205820-66206745	PANC-1	pancreas:	n/a	n/a
5	CCNT2	chr11:66206050-66206525	K562	blood:	n/a	chr11:66206427-66206447
6	HEY1	chr11:66206037-66206439	K562	blood:	n/a	n/a
7	POLR2A	chr11:66205903-66206377	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:66206057-66206355	A549	lung:	n/a	n/a
9	POLR2A	chr11:66205870-66206664	MCF10A-Er-Src	breast:	n/a	n/a
10	NR2C2	chr11:66205899-66206726	Hela-S3	cervix:	n/a	chr11:66206295-66206308 chr11:66206304-66206313 chr11:66206302-66206315
11	SIN3A	chr11:66205868-66206753	GM12878	blood:	n/a	n/a
12	TCF12	chr11:66205881-66206909	ECC-1	luminal epithelium:	n/a	chr11:66206231-66206241 chr11:66206648-66206655
13	GTF2F1	chr11:66205810-66206882	Hela-S3	cervix:	n/a	n/a
14	ETS1	chr11:66206101-66206772	A549	lung:	n/a	n/a
15	YY1	chr11:66205835-66206806	ECC-1	luminal epithelium:	n/a	chr11:66206285-66206307 chr11:66206283-66206300 chr11:66206284-66206296
16	HEY1	chr11:66205956-66207981	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:66206116-66206353	HepG2	liver:	n/a	n/a
18	HA-E2F1	chr11:66205806-66206769	MCF-7	breast:	n/a	n/a
19	NR2F2	chr11:66205952-66206808	MCF-7	breast:	n/a	chr11:66206297-66206312
20	POLR2A	chr11:66205521-66206668	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr11:66206143-66206762	HepG2	liver:	n/a	n/a
22	HCFC1	chr11:66205294-66207362	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:66205683-66206854	HepG2	liver:	n/a	n/a
24	YY1	chr11:66205843-66206768	ECC-1	luminal epithelium:	n/a	chr11:66206285-66206307 chr11:66206283-66206300 chr11:66206284-66206296
25	TAF1	chr11:66205901-66206745	ECC-1	luminal epithelium:	n/a	n/a
26	SIN3AK20	chr11:66206133-66206338	HepG2	liver:	n/a	n/a
27	ETS1	chr11:66205756-66206851	A549	lung:	n/a	n/a
28	RUNX3	chr11:66205835-66206796	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:66205904-66206586	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr11:66206161-66206787	K562	blood:	n/a	n/a
31	RCOR1	chr11:66206152-66206910	K562	blood:	n/a	n/a
32	TBP	chr11:66206099-66206737	Hela-S3	cervix:	n/a	n/a
33	TBL1XR1	chr11:66205897-66206679	GM12878	blood:	n/a	n/a
34	CHD1	chr11:66205802-66206234	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:66206038-66206441	K562	blood:	n/a	n/a
36	POLR2A	chr11:66205992-66206367	A549	lung:	n/a	n/a
37	POLR2A	chr11:66205828-66206765	Raji	blood:	n/a	n/a
38	REST	chr11:66205524-66206784	H1-neurons	neurons:	n/a	chr11:66206495-66206515 chr11:66206501-66206510 chr11:66206495-66206515
39	POLR2A	chr11:66205959-66206746	HCT-116	colon:	n/a	n/a
40	FOXA1	chr11:66206135-66206749	T-47D	breast:	n/a	n/a
41	YY1	chr11:66205888-66206728	NT2-D1	testis:	n/a	chr11:66206285-66206307 chr11:66206283-66206300 chr11:66206284-66206296
42	BCL3	chr11:66206057-66206872	A549	lung:	n/a	chr11:66206501-66206510
43	REST	chr11:66205989-66206380	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr11:66206140-66206290	AG04449	skin:	n/a	n/a
45	YY1	chr11:66206042-66206691	K562	blood:	n/a	chr11:66206285-66206307 chr11:66206283-66206300 chr11:66206284-66206296
46	ELF1	chr11:66206138-66206730	A549	lung:	n/a	n/a
47	MYC	chr11:66206070-66206390	MCF-7	breast:	n/a	chr11:66206072-66206081
48	KAP1	chr11:66205879-66206801	U2OS	brain:	n/a	n/a
49	MAZ	chr11:66206060-66206683	GM12878	blood:	n/a	chr11:66206072-66206081
50	BCLAF1	chr11:66206093-66206831	GM12878	blood:	n/a	chr11:66206501-66206510

No.	Distal block	Cell Line	Cell type
1	chr11:66197807..66202007-chr11:66202412..66207271,7	K562	blood:
2	chr11:66175552..66176768-chr11:66206161..66207112,4	MCF-7	breast:
3	chr11:66108764..66111622-chr11:66204863..66206886,2	K562	blood:
4	chr11:66204459..66208139-chr11:66244186..66247891,5	MCF-7	breast:
5	chr11:66202690..66204715-chr11:66204963..66207205,2	MCF-7	breast:
6	chr11:66189228..66192065-chr11:66204585..66206645,2	MCF-7	breast:
7	chr11:66175969..66177016-chr11:66205724..66207101,6	K562	blood:
8	chr11:66188650..66191452-chr11:66205105..66207853,2	MCF-7	breast:
9	chr11:66183520..66189580-chr11:66204076..66208200,8	K562	blood:
10	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
11	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
12	chr11:66189988..66191967-chr11:66204790..66206597,2	K562	blood:
13	chr11:66204408..66207592-chr11:66232898..66234568,4	MCF-7	breast:
14	chr11:66205529..66207544-chr11:66444301..66447000,2	K562	blood:
15	chr11:66024302..66026285-chr11:66204884..66207814,2	K562	blood:
16	chr11:66137325..66140119-chr11:66205058..66207807,2	K562	blood:
17	chr11:66137427..66139216-chr11:66204368..66207293,2	MCF-7	breast:
18	chr11:66138363..66140696-chr11:66204293..66206330,3	MCF-7	breast:
19	chr11:66204879..66207295-chr11:66445367..66447179,3	MCF-7	breast:
20	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
21	chr11:66204242..66206577-chr11:66245912..66248466,3	MCF-7	breast:

Variant related genes	Relation type
MRPL11	TF binding region
ENSG00000174996	Chromatin interaction
ENSG00000255517	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000201733	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000254510	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10896126	0.82[EUR][1000 genomes]
rs11227485	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12793712	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1785640	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2242663	0.84[JPT][hapmap]
rs2282640	0.93[ASW][hapmap];0.87[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2509565	0.89[ASN][1000 genomes]
rs2511220	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2511224	0.89[CHB][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap]
rs2511225	0.89[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.92[JPT][hapmap]
rs4930376	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs55853079	0.85[EUR][1000 genomes]
rs610293	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs7123875	0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7947391	0.86[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7951189	0.86[ASW][hapmap];0.83[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11110	CTSF	cis	cerebellum	SCAN
rs11110	CST6	cis	cerebellum	SCAN
rs11110	SUV420H1	cis	cerebellum	SCAN
rs11110	CDC42EP2	cis	cerebellum	SCAN
rs11110	CTSF	cis	Esophagus Muscularis	GTEx
rs11110	CCS	cis	cerebellum	SCAN
rs11110	UNC93B1	cis	cerebellum	SCAN
rs11110	ZFPL1	cis	parietal	SCAN
rs11110	POLR2G	cis	cerebellum	SCAN
rs11110	BBS1	cis	cerebellum	SCAN
rs11110	NDUFV1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66204600-66206600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:66204800-66206600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:66205200-66206600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:66205200-66206800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:66205200-66207000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:66205400-66206200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr11:66205400-66206400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:66205400-66206400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:66205400-66206600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:66205400-66206600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:66205400-66206600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:66205400-66206600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:66205400-66206600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:66205400-66206600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:66205400-66206600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:66205400-66206600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:66205400-66206600	Active TSS	Fetal Kidney	kidney
18	chr11:66205600-66206200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:66205600-66206200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:66205600-66206200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr11:66205600-66206200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
22	chr11:66205600-66206200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr11:66205600-66206400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr11:66205600-66206400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr11:66205600-66206400	Bivalent/Poised TSS	HepG2	liver
26	chr11:66205600-66206600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr11:66205600-66206600	Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:66205600-66206600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:66205600-66206600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:66205600-66206600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:66205600-66206600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:66205600-66206600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:66205600-66206600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:66205600-66206600	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr11:66205600-66206600	Active TSS	K562	blood
36	chr11:66205800-66206200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr11:66205800-66206200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:66205800-66206200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:66205800-66206400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:66205800-66206400	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr11:66205800-66206400	Active TSS	Small Intestine	intestine
42	chr11:66205800-66206400	Active TSS	HMEC	breast
43	chr11:66205800-66206400	Active TSS	HSMM	muscle
44	chr11:66205800-66206600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr11:66205800-66206600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:66205800-66206600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:66205800-66206600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:66205800-66206600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:66205800-66206600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:66205800-66206600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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