Variant report

Variant	rs66493355
Chromosome Location	chr11:64108539-64108540
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	CUX1	chr11:64108517-64108549	K562	blood:	n/a	n/a
2	CTCF	chr11:64108500-64108650	HCPEpiC	choroid plexus:	n/a	n/a
3	CTCF	chr11:64108494-64108653	GM10266	blood:	n/a	n/a
4	CTCF	chr11:64108460-64108642	GM12892	blood:	n/a	n/a
5	MAX	chr11:64108481-64108746	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2F1	chr11:64108413-64108711	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:64108501-64108669	GM19239	blood:	n/a	n/a
8	PML	chr11:64107081-64108570	GM12878	blood:	n/a	n/a
9	CTCF	chr11:64108500-64108650	A549	lung:	n/a	n/a
10	MAZ	chr11:64107154-64108557	GM12878	blood:	n/a	chr11:64107865-64107875 chr11:64108303-64108313
11	POLR2A	chr11:64108052-64108613	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:64108460-64108610	BJ	skin:	n/a	n/a
13	CTCF	chr11:64108520-64108670	GM12871	blood:	n/a	n/a
14	CTCF	chr11:64108420-64108570	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr11:64108480-64108630	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr11:64108500-64108650	SAEC	small airway:	n/a	n/a
17	ZBTB7A	chr11:64108276-64108633	K562	blood:	n/a	n/a
18	MYC	chr11:64108511-64108773	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:64107414-64108812	HL-60	blood:	n/a	n/a
20	CTCF	chr11:64108306-64108747	K562	blood:	n/a	n/a
21	EGR1	chr11:64108471-64108855	K562	blood:	n/a	chr11:64108679-64108692 chr11:64108676-64108690 chr11:64108679-64108692 chr11:64108604-64108618 chr11:64108674-64108696 chr11:64108656-64108670 chr11:64108679-64108692
22	CTCF	chr11:64108500-64108650	HL-60	blood:	n/a	n/a
23	SIN3A	chr11:64108347-64108880	H1-hESC	embryonic stem cell:	n/a	n/a
24	SP4	chr11:64108096-64108868	H1-hESC	embryonic stem cell:	n/a	chr11:64108507-64108518 chr11:64108300-64108316 chr11:64108298-64108314 chr11:64108279-64108295
25	CTCF	chr11:64108500-64108650	GM12872	blood:	n/a	n/a
26	CTCF	chr11:64108520-64108670	GM12872	blood:	n/a	n/a
27	SP1	chr11:64108036-64108956	H1-hESC	embryonic stem cell:	n/a	chr11:64108281-64108293 chr11:64108702-64108711 chr11:64108281-64108293 chr11:64108303-64108313 chr11:64108302-64108314 chr11:64108702-64108711 chr11:64108303-64108313 chr11:64108507-64108518 chr11:64108302-64108314 chr11:64108703-64108712 chr11:64108303-64108312 chr11:64108304-64108313
28	CTCF	chr11:64108500-64108650	GM12869	blood:	n/a	n/a
29	CTCF	chr11:64108463-64108689	GM12891	blood:	n/a	n/a
30	CTCF	chr11:64108460-64108610	HRPEpiC	eye:	n/a	n/a
31	TBP	chr11:64108430-64108543	K562	blood:	n/a	n/a
32	CTCF	chr11:64108420-64108570	HEK293	kidney:	n/a	n/a
33	POLR2A	chr11:64106788-64108606	GM12892	blood:	n/a	n/a
34	CTCF	chr11:64108480-64108630	HepG2	liver:	n/a	n/a
35	CTCF	chr11:64108460-64108610	MCF-7	breast:	n/a	n/a
36	CTCF	chr11:64108520-64108670	GM12864	blood:	n/a	n/a
37	CTCF	chr11:64108480-64108630	HMF	breast:	n/a	n/a
38	CTCF	chr11:64108500-64108650	RPTEC	kidney:	n/a	n/a
39	CTCF	chr11:64108513-64108628	HepG2	liver:	n/a	n/a
40	CTCF	chr11:64108480-64108630	GM12866	blood:	n/a	n/a
41	CBX3	chr11:64108375-64108856	K562	blood:	n/a	n/a
42	EBF1	chr11:64108259-64108539	GM12878	blood:	n/a	n/a
43	CTCF	chr11:64108416-64108662	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:64107349-64108777	HL-60	blood:	n/a	n/a
45	CTCF	chr11:64108420-64108570	HRPEpiC	eye:	n/a	n/a
46	RCOR1	chr11:64108336-64108707	K562	blood:	n/a	n/a
47	CTCF	chr11:64108500-64108650	GM12878	blood:	n/a	n/a
48	EGR1	chr11:64108513-64108781	H1-hESC	embryonic stem cell:	n/a	chr11:64108679-64108692 chr11:64108676-64108690 chr11:64108679-64108692 chr11:64108604-64108618 chr11:64108674-64108696 chr11:64108656-64108670 chr11:64108679-64108692
49	CTCF	chr11:64108407-64108795	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZMIZ1	chr11:64108410-64108588	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
2	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
3	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
4	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
5	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
6	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
7	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000162302	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11231741	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231746	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11231749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28364831	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56057146	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs578386	0.82[EUR][1000 genomes]
rs7122759	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72922077	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72924108	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs731703	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9787810	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
21	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64099800-64109600	Weak transcription	Liver	Liver
2	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
3	chr11:64103000-64108600	Weak transcription	A549	lung
4	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
5	chr11:64103400-64109600	Weak transcription	NH-A	brain
6	chr11:64103800-64109400	Weak transcription	NHEK	skin
7	chr11:64104000-64108800	Weak transcription	HMEC	breast
8	chr11:64104200-64108600	Weak transcription	Stomach Mucosa	stomach
9	chr11:64106600-64108800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr11:64106800-64108600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:64106800-64108800	Flanking Active TSS	Fetal Thymus	thymus
12	chr11:64106800-64109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:64107000-64108600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:64107000-64108800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr11:64107000-64109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:64107200-64108800	Enhancers	Spleen	Spleen
18	chr11:64107200-64109400	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:64107200-64110000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:64107400-64108600	Weak transcription	Hela-S3	cervix
21	chr11:64107400-64108800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr11:64107400-64109200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:64107800-64108600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:64107800-64108600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:64107800-64108600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:64107800-64108600	Active TSS	Brain Substantia Nigra	brain
27	chr11:64107800-64108800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:64107800-64108800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:64107800-64108800	Enhancers	Stomach Smooth Muscle	stomach
30	chr11:64108000-64108600	Active TSS	H1 Cell Line	embryonic stem cell
31	chr11:64108000-64108600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:64108000-64108600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr11:64108000-64108600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:64108000-64108600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr11:64108000-64108600	Active TSS	Brain Anterior Caudate	brain
36	chr11:64108000-64108800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr11:64108000-64109000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:64108000-64109000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:64108000-64109000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:64108000-64109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:64108000-64109400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr11:64108000-64109600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr11:64108000-64110800	Enhancers	Lung	lung
45	chr11:64108200-64108600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:64108200-64108600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:64108200-64108600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:64108200-64108600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:64108200-64108600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:64108200-64108600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin

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