Variant report

Variant	rs61887047
Chromosome Location	chr11:33060323-33060324
allele	C/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	CBX3	chr11:33060068-33061604	K562	blood:	n/a	n/a
2	POLR2A	chr11:33060306-33062301	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:33060311-33061845	PFSK-1	brain:	n/a	n/a
4	YY1	chr11:33060235-33062108	SK-N-SH	brain:	n/a	chr11:33060782-33060791 chr11:33060771-33060793 chr11:33060959-33060968 chr11:33060991-33061000 chr11:33061449-33061460 chr11:33060870-33060892 chr11:33060956-33060968 chr11:33061467-33061481 chr11:33060881-33060890
5	POLR2A	chr11:33060292-33061938	HepG2	liver:	n/a	n/a
6	CTCF	chr11:33060180-33060330	SK-N-SH_RA	brain:	n/a	n/a
7	HCFC1	chr11:33059908-33063103	Hela-S3	cervix:	n/a	n/a
8	GTF3C2	chr11:33060042-33060751	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:33060237-33062691	GM19099	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33057667..33060586-chr11:33062071..33064891,2	MCF-7	breast:
2	chr11:33035321..33039472-chr11:33059106..33064085,11	K562	blood:
3	chr11:33059371..33062523-chr11:33080463..33084324,4	MCF-7	breast:
4	chr11:32914351..32916676-chr11:33059902..33062238,2	K562	blood:
5	chr11:33059557..33062519-chr11:33089882..33091963,2	MCF-7	breast:
6	chr11:32912008..32915658-chr11:33059663..33062231,5	K562	blood:
7	chr11:32912801..32916780-chr11:33060030..33062962,4	MCF-7	breast:
8	chr11:33035752..33039107-chr11:33059295..33062622,5	K562	blood:

Variant related genes	Relation type
TCP11L1	TF binding region
ENSG00000060749	Chromatin interaction
ENSG00000121690	Chromatin interaction
ENSG00000176148	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17852859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55930446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55986024	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56146088	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56308649	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61887043	0.94[EUR][1000 genomes]
rs61887048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61887059	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889261	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889262	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889303	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61889304	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72902993	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753057	chr11:32796124-33061724	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	esv2753743	chr11:32796124-33084924	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv1040484	chr11:32951066-33093204	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1046198	chr11:32954100-33075142	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv2762904	chr11:32969258-33586535	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1041149	chr11:32981164-33496670	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv1053823	chr11:32981164-33533356	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	nsv897194	chr11:32993887-33471804	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv1040572	chr11:33008191-33518964	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv540989	chr11:33008191-33518964	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
11	nsv1042860	chr11:33008191-33562490	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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	65 gene(s)	inside rSNPs	diseases
12	nsv540990	chr11:33008191-33562490	Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv533840	chr11:33008192-33595324	Bivalent Enhancer Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv1051521	chr11:33008435-33239765	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv540991	chr11:33008435-33239765	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
17	nsv897195	chr11:33012493-33559186	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv1053344	chr11:33028973-33499346	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
19	nsv1046243	chr11:33043155-33439216	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
20	nsv540992	chr11:33043155-33439216	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
22	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
23	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
24	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33039400-33060400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:33039600-33060400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:33040800-33060400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:33045200-33060600	Weak transcription	Small Intestine	intestine
5	chr11:33047000-33060400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:33047000-33060600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:33050000-33060400	Weak transcription	Fetal Lung	lung
8	chr11:33050000-33060400	Weak transcription	HSMMtube	muscle
9	chr11:33050200-33060400	Weak transcription	HMEC	breast
10	chr11:33053400-33060400	Weak transcription	K562	blood
11	chr11:33053800-33060600	Weak transcription	NHDF-Ad	bronchial
12	chr11:33054600-33060400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:33057000-33060800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:33057600-33060400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:33060000-33060400	Enhancers	HepG2	liver
16	chr11:33060000-33062200	Active TSS	GM12878-XiMat	blood
17	chr11:33060200-33060400	Enhancers	H1 Cell Line	embryonic stem cell
18	chr11:33060200-33060400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:33060200-33060400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr11:33060200-33060400	Enhancers	Primary B cells from cord blood	blood
21	chr11:33060200-33060400	Enhancers	Primary B cells from peripheral blood	blood
22	chr11:33060200-33060400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:33060200-33060400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:33060200-33060400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:33060200-33060400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:33060200-33060400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:33060200-33060400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:33060200-33060400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:33060200-33060400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr11:33060200-33060400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:33060200-33060400	Enhancers	Fetal Muscle Leg	muscle
32	chr11:33060200-33060400	Active TSS	Placenta	Placenta
33	chr11:33060200-33060400	Enhancers	Pancreas	Pancrea
34	chr11:33060200-33060400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:33060200-33060400	Flanking Active TSS	Dnd41	blood
36	chr11:33060200-33060400	Flanking Active TSS	Hela-S3	cervix
37	chr11:33060200-33060400	Weak transcription	NHEK	skin
38	chr11:33060200-33060600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr11:33060200-33060600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:33060200-33060600	Enhancers	Fetal Brain Male	brain
41	chr11:33060200-33060600	Enhancers	Stomach Mucosa	stomach
42	chr11:33060200-33060600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:33060200-33060800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr11:33060200-33060800	Active TSS	Right Atrium	heart
45	chr11:33060200-33061400	Active TSS	Primary hematopoietic stem cells	blood
46	chr11:33060200-33061400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:33060200-33061600	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:33060200-33061600	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:33060200-33061600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:33060200-33061600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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