Variant report

Variant	rs2066491
Chromosome Location	chr11:67160285-67160286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67159877-67160406	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67158520-67160304	K562	blood:	n/a	n/a
3	SMARCB1	chr11:67158726-67160291	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr11:67158365-67160317	SK-N-SH	brain:	n/a	chr11:67159312-67159321
5	MAX	chr11:67159752-67160437	K562	blood:	n/a	n/a
6	POLR2A	chr11:67159998-67160430	ECC-1	luminal epithelium:	n/a	n/a
7	PBX3	chr11:67159034-67160384	A549	lung:	n/a	n/a
8	MXI1	chr11:67158360-67160490	IMR90	lung:	n/a	chr11:67159312-67159321
9	BHLHE40	chr11:67160193-67160346	K562	blood:	n/a	n/a
10	ZNF263	chr11:67159858-67160350	HEK293-T-REx	kidney:	n/a	chr11:67160011-67160032
11	HCFC1	chr11:67158498-67160432	Hela-S3	cervix:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67158769..67160682-chr11:67274736..67276408,2	MCF-7	breast:
2	chr11:67157917..67161280-chr11:67271512..67274163,3	MCF-7	breast:
3	chr11:67159421..67161559-chr11:67272153..67274079,2	K562	blood:
4	chr11:67157842..67160719-chr11:67374445..67376408,2	MCF-7	breast:
5	chr11:67159952..67162907-chr11:67231636..67233328,2	K562	blood:
6	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
7	chr11:67138430..67143112-chr11:67157518..67161987,7	K562	blood:
8	chr11:67157021..67160587-chr11:67222667..67225674,3	MCF-7	breast:
9	chr11:67158791..67161769-chr11:67261033..67263210,2	K562	blood:
10	chr11:67070042..67072610-chr11:67159168..67161895,3	MCF-7	breast:
11	chr11:67116454..67122701-chr11:67156914..67162562,7	K562	blood:
12	chr11:67019300..67021347-chr11:67159445..67161762,2	K562	blood:
13	chr11:67158620..67160811-chr11:67201509..67205285,3	K562	blood:
14	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
15	chr11:67156232..67161608-chr11:67271298..67276147,11	MCF-7	breast:
16	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:

No data

Variant related genes	Relation type
RAD9A	TF binding region
ENSG00000173020	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10896171	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227771	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11227780	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11826923	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2255990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891571	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs61891572	0.94[AMR][1000 genomes]
rs61891574	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72932705	0.94[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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 miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
15	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
18	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
19	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67158200-67160400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:67158200-67160400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:67158200-67160400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:67158400-67160400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:67158600-67160400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:67158600-67160400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:67158600-67160400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:67159200-67160600	Active TSS	HSMM	muscle
9	chr11:67159600-67160400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:67159600-67160400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr11:67159600-67160400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr11:67159600-67160400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:67159600-67160400	Flanking Active TSS	Fetal Brain Male	brain
14	chr11:67159800-67160400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:67159800-67160400	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:67159800-67160400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:67159800-67160400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:67159800-67160400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:67159800-67160400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:67159800-67160400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr11:67159800-67160400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:67159800-67160400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:67159800-67160400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr11:67159800-67160400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:67159800-67160400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:67159800-67160400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr11:67159800-67160400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr11:67159800-67160400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:67159800-67160400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr11:67159800-67160400	Flanking Active TSS	Liver	Liver
31	chr11:67159800-67160400	Flanking Active TSS	Brain Anterior Caudate	brain
32	chr11:67159800-67160400	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr11:67159800-67160400	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr11:67159800-67160400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:67159800-67160400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr11:67159800-67160400	Flanking Active TSS	Esophagus	oesophagus
37	chr11:67159800-67160400	Flanking Active TSS	Fetal Lung	lung
38	chr11:67159800-67160400	Flanking Active TSS	Placenta	Placenta
39	chr11:67159800-67160400	Flanking Active TSS	Fetal Stomach	stomach
40	chr11:67159800-67160400	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr11:67159800-67160400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:67159800-67160400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:67159800-67160400	Flanking Active TSS	Spleen	Spleen
44	chr11:67159800-67160400	Flanking Active TSS	Hela-S3	cervix
45	chr11:67159800-67160400	Flanking Active TSS	HUVEC	blood vessel
46	chr11:67159800-67160400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr11:67159800-67160400	Flanking Active TSS	NH-A	brain
48	chr11:67159800-67160600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:67159800-67160600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:67160000-67160400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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