Variant report

Variant	rs35166611
Chromosome Location	chr11:66115782-66115783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:251)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr11:66115278-66116131	GM12878	blood:	n/a	n/a
2	MAZ	chr11:66114931-66115911	K562	blood:	n/a	n/a
3	YY1	chr11:66115223-66115790	GM12878	blood:	n/a	chr11:66115366-66115380
4	WRNIP1	chr11:66115383-66115979	GM12878	blood:	n/a	n/a
5	ARID3A	chr11:66115287-66115835	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:66115187-66115862	HUVEC	blood vessel:	n/a	n/a
7	MAX	chr11:66115294-66115943	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr11:66114444-66116220	IMR90	lung:	n/a	n/a
9	ETS1	chr11:66115473-66115811	K562	blood:	n/a	chr11:66115771-66115786 chr11:66115711-66115726
10	USF1	chr11:66115411-66115826	A549	lung:	n/a	n/a
11	POLR2A	chr11:66115242-66115850	U87	brain:	n/a	n/a
12	TEAD4	chr11:66115389-66115951	A549	lung:	n/a	n/a
13	FOSL2	chr11:66115310-66115936	A549	lung:	n/a	chr11:66115449-66115458
14	CEBPB	chr11:66115454-66115818	Hela-S3	cervix:	n/a	n/a
15	ZNF263	chr11:66115349-66115833	HEK293-T-REx	kidney:	n/a	n/a
16	ATF2	chr11:66115321-66115830	H1-hESC	embryonic stem cell:	n/a	n/a
17	PAX5	chr11:66115318-66115895	GM12878	blood:	n/a	n/a
18	MAX	chr11:66115469-66115946	Hela-S3	cervix:	n/a	n/a
19	GTF3C2	chr11:66115373-66115904	Hela-S3	cervix:	n/a	n/a
20	ATF3	chr11:66115293-66116024	K562	blood:	n/a	chr11:66115330-66115339
21	IRF4	chr11:66115371-66115894	GM12878	blood:	n/a	n/a
22	ATF2	chr11:66115268-66115934	GM12878	blood:	n/a	n/a
23	BCL3	chr11:66115264-66115945	A549	lung:	n/a	chr11:66115324-66115337
24	USF1	chr11:66115347-66115941	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr11:66115160-66115892	PANC-1	pancreas:	n/a	n/a
26	SIN3A	chr11:66115461-66115784	GM12878	blood:	n/a	n/a
27	REST	chr11:66115447-66115828	SK-N-SH	brain:	n/a	n/a
28	ATF2	chr11:66115280-66115835	H1-hESC	embryonic stem cell:	n/a	n/a
29	MYC	chr11:66115301-66115867	K562	blood:	n/a	n/a
30	E2F6	chr11:66115341-66116114	A549	lung:	n/a	n/a
31	POLR2A	chr11:66114688-66115992	HUVEC	blood vessel:	n/a	n/a
32	CUX1	chr11:66115400-66115887	K562	blood:	n/a	n/a
33	BRCA1	chr11:66115521-66115910	GM12878	blood:	n/a	n/a
34	ZKSCAN1	chr11:66115403-66115872	Hela-S3	cervix:	n/a	n/a
35	ETS1	chr11:66115293-66116006	A549	lung:	n/a	chr11:66115771-66115786 chr11:66115711-66115726
36	CBX3	chr11:66115285-66115929	K562	blood:	n/a	n/a
37	REST	chr11:66115250-66115947	A549	lung:	n/a	chr11:66115338-66115351
38	BACH1	chr11:66115373-66115923	H1-hESC	embryonic stem cell:	n/a	n/a
39	GABPA	chr11:66115411-66115831	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr11:66115486-66115815	K562	blood:	n/a	n/a
41	SIN3AK20	chr11:66115359-66115859	A549	lung:	n/a	n/a
42	JUND	chr11:66115435-66115907	A549	lung:	n/a	chr11:66115449-66115458
43	TAF1	chr11:66115173-66115825	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOSL2	chr11:66115342-66115814	HepG2	liver:	n/a	chr11:66115449-66115458
45	SIN3A	chr11:66114421-66115869	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOSL2	chr11:66115241-66115977	SK-N-SH	brain:	n/a	chr11:66115449-66115458
47	MAX	chr11:66114362-66115874	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:66114904-66115901	K562	blood:	n/a	n/a
49	RCOR1	chr11:66115311-66115892	K562	blood:	n/a	n/a
50	MYC	chr11:66115255-66115824	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:66033076..66035331-chr11:66114524..66116038,2	MCF-7	breast:
2	chr11:66055638..66057992-chr11:66113909..66116651,3	K562	blood:
3	chr11:66108426..66118730-chr11:66133678..66141000,25	MCF-7	breast:
4	chr11:66054499..66057435-chr11:66115136..66117035,2	MCF-7	breast:
5	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
6	chr11:66078215..66080508-chr11:66113999..66115962,2	K562	blood:
7	chr11:66103854..66118324-chr11:66119048..66141728,55	K562	blood:
8	chr11:66033236..66035909-chr11:66113505..66116691,3	K562	blood:
9	chr11:66115381..66116970-chr11:66233175..66235277,2	MCF-7	breast:

No data

Variant related genes	Relation type
BRMS1	TF binding region
B3GNT1	TF binding region
ENSG00000254855	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000174516	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000174669	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11537993	1.00[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];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496250	1.00[YRI][hapmap]
rs2282529	1.00[YRI][hapmap]
rs3741367	0.81[CEU][hapmap]
rs3816492	1.00[YRI][hapmap]
rs3867132	1.00[YRI][hapmap]
rs523583	0.81[CEU][hapmap]
rs72940579	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv897781	chr11:66095967-66116911	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv897782	chr11:66099222-66116911	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv897783	chr11:66107527-66118676	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv897784	chr11:66111901-66123043	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv897785	chr11:66112574-66123043	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs35166611	ESRRA	cis	cerebellum	SCAN
rs35166611	ASRGL1	cis	parietal	SCAN
rs35166611	MACROD1	cis	parietal	SCAN
rs35166611	ALDH3B1	cis	parietal	SCAN
rs35166611	SCGB2A2	cis	parietal	SCAN
rs35166611	SLC25A45	cis	parietal	SCAN
rs35166611	PTPRCAP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66113600-66116000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:66113800-66116200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:66114000-66116000	Active TSS	Fetal Kidney	kidney
4	chr11:66114200-66115800	Active TSS	Brain Angular Gyrus	brain
5	chr11:66114200-66116000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:66114200-66116000	Active TSS	Osteobl	bone
7	chr11:66114200-66116200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:66114400-66115800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:66114400-66115800	Active TSS	Brain Anterior Caudate	brain
10	chr11:66114400-66115800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:66114400-66115800	Active TSS	Fetal Brain Female	brain
12	chr11:66114400-66115800	Active TSS	Fetal Intestine Small	intestine
13	chr11:66114400-66115800	Active TSS	Fetal Lung	lung
14	chr11:66114400-66115800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr11:66114400-66115800	Active TSS	Small Intestine	intestine
16	chr11:66114400-66116000	Active TSS	HSMM	muscle
17	chr11:66114400-66116000	Active TSS	HSMMtube	muscle
18	chr11:66114400-66116200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:66114400-66116200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:66114400-66116200	Active TSS	Rectal Smooth Muscle	rectum
21	chr11:66114400-66116400	Active TSS	Fetal Intestine Large	intestine
22	chr11:66114600-66115800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:66114600-66115800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:66114600-66115800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:66114600-66115800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:66114600-66115800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:66114600-66115800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:66114600-66115800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr11:66114600-66115800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr11:66114600-66115800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:66114600-66115800	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:66114600-66115800	Active TSS	Ovary	ovary
33	chr11:66114600-66115800	Active TSS	Placenta Amnion	Placenta Amnion
34	chr11:66114600-66115800	Active TSS	A549	lung
35	chr11:66114600-66115800	Active TSS	GM12878-XiMat	blood
36	chr11:66114600-66115800	Active TSS	NHDF-Ad	bronchial
37	chr11:66114600-66116000	Active TSS	Aorta	Aorta
38	chr11:66114600-66116000	Active TSS	Brain Substantia Nigra	brain
39	chr11:66114600-66116000	Active TSS	Left Ventricle	heart
40	chr11:66114600-66116000	Active TSS	Right Ventricle	heart
41	chr11:66114600-66116400	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:66114800-66115800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:66114800-66115800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:66114800-66115800	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:66114800-66115800	Active TSS	Esophagus	oesophagus
46	chr11:66114800-66115800	Active TSS	Lung	lung
47	chr11:66114800-66115800	Active TSS	Pancreas	Pancrea
48	chr11:66114800-66115800	Active TSS	Psoas Muscle	Psoas
49	chr11:66114800-66115800	Active TSS	HUVEC	blood vessel
50	chr11:66114800-66115800	Active TSS	NHEK	skin

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