Variant report

Variant	rs2276132
Chromosome Location	chr11:65770545-65770546
allele	C/T
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	MAX	chr11:65769260-65770583	ECC-1	luminal epithelium:	n/a	n/a
2	ELF1	chr11:65769124-65770720	HCT-116	colon:	n/a	chr11:65769736-65769749 chr11:65769945-65769954 chr11:65770621-65770632 chr11:65769951-65769960 chr11:65769944-65769955 chr11:65769946-65769955
3	GABPA	chr11:65768954-65770600	A549	lung:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
4	CTCF	chr11:65770400-65770550	HCFaa	heart:	n/a	n/a
5	POLR2A	chr11:65768894-65770645	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:65769285-65770582	ECC-1	luminal epithelium:	n/a	n/a
7	GATA3	chr11:65770283-65770670	T-47D	breast:	n/a	chr11:65770615-65770623
8	TAF1	chr11:65769159-65770597	PFSK-1	brain:	n/a	n/a
9	CEBPB	chr11:65770312-65770577	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:65768720-65770765	K562	blood:	n/a	n/a
11	POLR2A	chr11:65768961-65771436	PANC-1	pancreas:	n/a	n/a
12	CTCF	chr11:65770400-65770550	HCPEpiC	choroid plexus:	n/a	n/a
13	PBX3	chr11:65769342-65770583	A549	lung:	n/a	n/a
14	CTCF	chr11:65770319-65770582	GM12878	blood:	n/a	n/a
15	GABPA	chr11:65768954-65770733	MCF-7	breast:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
16	EP300	chr11:65770157-65770641	T-47D	breast:	n/a	chr11:65770392-65770405
17	RAD21	chr11:65770318-65770594	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr11:65770302-65770615	IMR90	lung:	n/a	n/a
19	STAT5A	chr11:65770189-65770621	GM12878	blood:	n/a	chr11:65770470-65770478
20	POLR2A	chr11:65769254-65770595	HL-60	blood:	n/a	n/a
21	SMC3	chr11:65770276-65770586	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:65769274-65770618	MCF-7	breast:	n/a	n/a
23	SIN3AK20	chr11:65768999-65770631	PANC-1	pancreas:	n/a	n/a
24	CTCF	chr11:65770333-65770549	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:65770420-65770570	AG09319	gingival:	n/a	n/a
26	MAX	chr11:65769215-65770689	K562	blood:	n/a	n/a
27	GABPA	chr11:65768962-65770642	SK-N-SH	brain:	n/a	chr11:65770260-65770269 chr11:65769951-65769958 chr11:65769005-65769016
28	CTCF	chr11:65770400-65770550	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:65768990-65772628	GM12878	blood:	n/a	n/a
30	MAX	chr11:65769403-65770588	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:65770420-65770570	AG10803	skin:	n/a	n/a
32	POLR2A	chr11:65768998-65770558	GM12892	blood:	n/a	n/a
33	SIN3AK20	chr11:65769106-65770631	MCF-7	breast:	n/a	n/a
34	MXI1	chr11:65768500-65771007	SK-N-SH	brain:	n/a	chr11:65769021-65769036
35	TCF12	chr11:65769155-65770627	A549	lung:	n/a	n/a
36	PML	chr11:65768893-65770631	GM12878	blood:	n/a	n/a
37	HCFC1	chr11:65768883-65771260	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:65769313-65770549	HCT-116	colon:	n/a	n/a
39	SP1	chr11:65769262-65770609	A549	lung:	n/a	chr11:65769327-65769341 chr11:65769654-65769665
40	CTCF	chr11:65770420-65770570	NB4	blood:	n/a	n/a
41	POLR2A	chr11:65769145-65770655	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:65769285-65770657	GM12878	blood:	n/a	n/a
43	NR2F2	chr11:65769367-65770669	MCF-7	breast:	n/a	n/a
44	BCL3	chr11:65770206-65770644	A549	lung:	n/a	n/a
45	HDAC2	chr11:65769362-65770580	MCF-7	breast:	n/a	n/a
46	CTCF	chr11:65770316-65770599	IMR90	lung:	n/a	n/a
47	CTCF	chr11:65770400-65770550	AG09309	skin:	n/a	n/a
48	STAT5A	chr11:65768914-65770601	GM12878	blood:	n/a	chr11:65769180-65769188 chr11:65769742-65769749 chr11:65770015-65770035 chr11:65769943-65769967 chr11:65770021-65770029 chr11:65770470-65770478
49	CTCF	chr11:65770400-65770550	HPAF	blood vessel:	n/a	n/a
50	PML	chr11:65769246-65770640	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65745204..65747160-chr11:65768458..65770932,2	MCF-7	breast:
2	chr11:65769812..65778104-chr11:65786537..65794453,15	K562	blood:
3	chr11:65727706..65730705-chr11:65767958..65771448,5	K562	blood:
4	chr11:65768250..65771590-chr11:65817294..65821421,6	K562	blood:
5	chr11:65768250..65771110-chr11:65819143..65821313,2	K562	blood:
6	chr11:65768121..65772581-chr11:65835630..65838620,4	MCF-7	breast:
7	chr11:65728631..65731213-chr11:65769693..65771448,3	K562	blood:
8	chr11:65767772..65771693-chr11:65812597..65815090,3	MCF-7	breast:
9	chr11:65626233..65629168-chr11:65768411..65771473,3	MCF-7	breast:
10	chr11:65767679..65771369-chr11:65818165..65822112,6	MCF-7	breast:
11	chr11:65768713..65771187-chr11:65815106..65817250,2	MCF-7	breast:
12	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
13	chr11:65727817..65730505-chr11:65769706..65771571,3	MCF-7	breast:
14	chr11:65727757..65730728-chr11:65768462..65771270,6	MCF-7	breast:
15	chr11:65380602..65383246-chr11:65768678..65771455,2	K562	blood:
16	chr11:65769145..65771135-chr11:65826724..65830064,3	MCF-7	breast:
17	chr11:65631727..65633927-chr11:65768782..65771616,2	MCF-7	breast:
18	chr11:65635925..65638559-chr11:65769134..65770863,2	MCF-7	breast:
19	chr11:65768123..65770687-chr11:65788351..65790253,5	MCF-7	breast:
20	chr11:65428607..65430796-chr11:65768393..65771088,2	K562	blood:
21	chr11:65623413..65628719-chr11:65768360..65773657,11	MCF-7	breast:
22	chr11:65386057..65388791-chr11:65767890..65770632,2	K562	blood:

Variant related genes	Relation type
BANF1	TF binding region
EIF1AD	TF binding region
ENSG00000173039	Chromatin interaction
ENSG00000175602	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000172638	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000175229	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791835	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10791837	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896070	0.86[ASN][1000 genomes]
rs10896073	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227370	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12363614	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759035	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55947178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60109456	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6591195	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7113428	0.83[EUR][1000 genomes]
rs7128076	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs735942	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs747526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754532	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7934543	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7939253	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7939390	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7952056	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9735063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
5	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2276132	BANF1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65768000-65770600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr11:65768000-65770600	Active TSS	Right Ventricle	heart
3	chr11:65768000-65770800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:65768000-65770800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65768000-65770800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:65768000-65771200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:65768200-65770600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:65768200-65770600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:65768200-65770600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:65768200-65770600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:65768200-65770600	Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:65768200-65770600	Active TSS	Rectal Smooth Muscle	rectum
13	chr11:65768200-65770600	Active TSS	Dnd41	blood
14	chr11:65768200-65770600	Active TSS	GM12878-XiMat	blood
15	chr11:65768200-65770600	Active TSS	HMEC	breast
16	chr11:65768200-65770600	Active TSS	HSMM	muscle
17	chr11:65768200-65770600	Active TSS	K562	blood
18	chr11:65768200-65770800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:65768400-65770600	Active TSS	NHLF	lung
20	chr11:65768400-65771000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:65768400-65771000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr11:65768400-65771200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:65768400-65771200	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:65768600-65770600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:65768600-65770600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65768600-65770600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:65768600-65770600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:65768600-65770600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:65768600-65770600	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:65768600-65770600	Active TSS	Colon Smooth Muscle	Colon
31	chr11:65768600-65770600	Active TSS	Fetal Intestine Small	intestine
32	chr11:65768600-65770600	Active TSS	HSMMtube	muscle
33	chr11:65768600-65770800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:65768600-65770800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:65768600-65770800	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:65768600-65770800	Active TSS	Ovary	ovary
37	chr11:65768600-65771000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:65768600-65771000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:65768600-65771000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:65768600-65771000	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr11:65768600-65771000	Active TSS	A549	lung
42	chr11:65768600-65771200	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:65768600-65771200	Active TSS	NHDF-Ad	bronchial
44	chr11:65768800-65770600	Active TSS	Brain Angular Gyrus	brain
45	chr11:65768800-65770600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:65768800-65770600	Active TSS	Fetal Heart	heart
47	chr11:65768800-65770600	Active TSS	Fetal Stomach	stomach
48	chr11:65768800-65770600	Active TSS	Left Ventricle	heart
49	chr11:65768800-65770800	Active TSS	Aorta	Aorta
50	chr11:65768800-65770800	Active TSS	Esophagus	oesophagus

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