Variant report

Variant	rs2286621
Chromosome Location	chr11:67167144-67167145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67166832-67167265	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:67166090-67167256	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:67163972-67167371	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:67165819-67167288	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:67166172-67167245	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:67166941-67167157	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:67164821-67167639	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:67165990-67167288	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:67164715-67167476	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:67167043-67167241	HCT-116	colon:	n/a	n/a
11	POLR2A	chr11:67164525-67167300	K562	blood:	n/a	n/a
12	POLR2A	chr11:67162849-67167326	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67164777-67167449	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr11:67162831-67167316	K562	blood:	n/a	n/a
15	POLR2A	chr11:67165842-67167307	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:67164695-67167286	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr11:67164786-67167247	MCF-7	breast:	n/a	n/a
18	POLR2A	chr11:67163677-67167294	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:67162599-67167265	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr11:67163149-67167243	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:67166874-67167153	MCF-7	breast:	n/a	n/a
22	POLR2A	chr11:67166957-67167336	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr11:67164736-67167236	U87	brain:	n/a	n/a
24	POLR2A	chr11:67162873-67167363	GM12892	blood:	n/a	n/a
25	ELF1	chr11:67166428-67167157	GM12878	blood:	n/a	chr11:67166656-67166667
26	POLR2A	chr11:67166668-67167174	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67162822-67167423	K562	blood:	n/a	n/a
28	POLR2A	chr11:67163762-67167367	K562	blood:	n/a	n/a
29	POLR2A	chr11:67166048-67167288	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67165976-67167260	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:67163626-67167320	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:67163577-67167470	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:67162931-67167248	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67166896-67167167	HUVEC	blood vessel:	n/a	n/a
35	HEY1	chr11:67166740-67167199	K562	blood:	n/a	n/a
36	POLR2A	chr11:67162854-67167503	K562	blood:	n/a	n/a
37	POLR2A	chr11:67166003-67167160	GM12891	blood:	n/a	n/a
38	ZNF263	chr11:67166688-67167184	HEK293-T-REx	kidney:	n/a	chr11:67167004-67167013 chr11:67167008-67167029
39	POLR2A	chr11:67166840-67167245	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
2	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
3	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
4	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
5	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
6	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10C	TF binding region
PPP1CA	TF binding region
RNU6-1238P	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000172663	Chromatin interaction

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

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

rs_ID	r²[population]
rs12791976	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12803635	1.00[AFR][1000 genomes]
rs12803820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34281447	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34614891	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35590263	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36019351	1.00[AFR][1000 genomes]
rs3741180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55987642	1.00[AFR][1000 genomes]
rs71457767	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71457768	1.00[AFR][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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' 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	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
2	chr11:67160800-67167200	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:67160800-67167200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:67161000-67167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:67161000-67167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:67161200-67168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:67161400-67167800	Strong transcription	NHEK	skin
8	chr11:67161400-67168000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67161600-67167800	Strong transcription	Brain Substantia Nigra	brain
10	chr11:67162800-67167200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:67162800-67167400	Strong transcription	Osteobl	bone
12	chr11:67162800-67167800	Genic enhancers	Primary T cells fromperipheralblood	blood
13	chr11:67162800-67168000	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr11:67163000-67167200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:67163000-67167800	Genic enhancers	Fetal Thymus	thymus
16	chr11:67163000-67168000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:67163200-67167200	Strong transcription	Ovary	ovary
19	chr11:67163400-67167800	Genic enhancers	Primary T cells from cord blood	blood
20	chr11:67163400-67167800	Genic enhancers	Fetal Muscle Leg	muscle
21	chr11:67163400-67168000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr11:67163600-67167200	Strong transcription	Brain Angular Gyrus	brain
23	chr11:67163800-67167400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr11:67163800-67167600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:67163800-67167800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:67163800-67167800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:67164000-67167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:67164000-67167200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:67164000-67167800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:67164000-67167800	Genic enhancers	Placenta	Placenta
31	chr11:67164000-67168000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:67164200-67167200	Genic enhancers	Adipose Nuclei	Adipose
33	chr11:67164200-67167800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:67164200-67167800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:67164200-67168000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr11:67164400-67167600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr11:67164400-67167600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:67164600-67167200	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:67164600-67167600	Genic enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:67164600-67167800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:67164800-67167200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:67164800-67167200	Strong transcription	Left Ventricle	heart
43	chr11:67164800-67167600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:67164800-67167600	Genic enhancers	Primary B cells from cord blood	blood
45	chr11:67164800-67167800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:67164800-67167800	Genic enhancers	Right Ventricle	heart
47	chr11:67164800-67167800	Genic enhancers	K562	blood
48	chr11:67164800-67168000	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:67164800-67168600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr11:67165000-67167200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood

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