Variant report

Variant	rs2286619
Chromosome Location	chr11:67166337-67166338
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67166090-67167256	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:67163972-67167371	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:67165819-67167288	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67166302-67166361	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:67166172-67167245	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:67165917-67166569	Hela-S3	cervix:	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	chr11:67164525-67167300	K562	blood:	n/a	n/a
11	POLR2A	chr11:67162849-67167326	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:67165970-67166403	K562	blood:	n/a	n/a
13	POLR2A	chr11:67164777-67167449	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr11:67164776-67166908	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:67162831-67167316	K562	blood:	n/a	n/a
16	POLR2A	chr11:67165842-67167307	GM12892	blood:	n/a	n/a
17	POLR2A	chr11:67164695-67167286	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr11:67164786-67167247	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:67166328-67166638	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:67163677-67167294	GM12892	blood:	n/a	n/a
21	POLR2A	chr11:67162599-67167265	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr11:67166221-67166734	A549	lung:	n/a	n/a
23	POLR2A	chr11:67166284-67166439	A549	lung:	n/a	n/a
24	POLR2A	chr11:67163149-67167243	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:67166204-67166403	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:67163917-67166568	K562	blood:	n/a	n/a
27	POLR2A	chr11:67164736-67167236	U87	brain:	n/a	n/a
28	POLR2A	chr11:67162873-67167363	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:67166279-67166421	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67162822-67167423	K562	blood:	n/a	n/a
31	POLR2A	chr11:67165405-67167061	U87	brain:	n/a	n/a
32	POLR2A	chr11:67163762-67167367	K562	blood:	n/a	n/a
33	POLR2A	chr11:67166048-67167288	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67165976-67167260	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:67166292-67166694	A549	lung:	n/a	n/a
36	POLR2A	chr11:67163626-67167320	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:67166280-67166707	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:67163577-67167470	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr11:67166005-67166408	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:67162931-67167248	GM12878	blood:	n/a	n/a
41	POLR2A	chr11:67166164-67166894	GM12878	blood:	n/a	n/a
42	POLR2A	chr11:67166200-67166402	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr11:67162854-67167503	K562	blood:	n/a	n/a
44	ELF1	chr11:67166301-67166516	K562	blood:	n/a	n/a
45	POLR2A	chr11:67166003-67167160	GM12891	blood:	n/a	n/a
46	POLR2A	chr11:67164874-67167097	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:67032184..67035001-chr11:67164126..67166360,2	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	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
6	chr11:67032184..67035938-chr11:67163286..67166360,3	K562	blood:

No data

Variant related genes	Relation type
RNU6-1238P	TF binding region
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000167797	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10736657	0.82[ASN][1000 genomes]
rs10896166	0.92[ASN][1000 genomes]
rs12788405	0.89[EUR][1000 genomes]
rs12790040	0.81[ASN][1000 genomes]
rs12791853	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12805811	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419861	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638569	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878756	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17883741	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790731	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790735	0.93[ASN][1000 genomes]
rs1790737	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790738	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790739	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790762	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1894112	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1944096	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298815	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429459	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2429463	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2511057	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2514257	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2532605	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2852875	0.89[ASN][1000 genomes]
rs34000912	0.85[ASN][1000 genomes]
rs34087937	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35176549	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35821109	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35876769	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737460	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244822	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61734600	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591241	0.85[ASN][1000 genomes]
rs66466718	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71457775	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394531	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7934433	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs867193	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326373	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9734588	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67160200-67167000	Weak transcription	Psoas Muscle	Psoas
2	chr11:67160400-67166600	Strong transcription	Brain Cingulate Gyrus	brain
3	chr11:67160400-67166800	Strong transcription	A549	lung
4	chr11:67160400-67167800	Weak transcription	Right Atrium	heart
5	chr11:67160600-67166800	Weak transcription	Fetal Brain Male	brain
6	chr11:67160800-67167000	Strong transcription	Fetal Intestine Large	intestine
7	chr11:67160800-67167200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:67160800-67167200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:67161000-67166400	Strong transcription	Lung	lung
10	chr11:67161000-67166800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:67161000-67167400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:67161000-67167600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:67161200-67167000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:67161200-67168000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:67161400-67167000	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:67161400-67167800	Strong transcription	NHEK	skin
17	chr11:67161400-67168000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:67161600-67167800	Strong transcription	Brain Substantia Nigra	brain
19	chr11:67161800-67166400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:67161800-67166800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:67162600-67166400	Strong transcription	Liver	Liver
22	chr11:67162600-67166400	Strong transcription	Gastric	stomach
23	chr11:67162600-67166600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:67162600-67166800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr11:67162600-67167000	Strong transcription	Brain Anterior Caudate	brain
26	chr11:67162800-67166400	Strong transcription	Brain Germinal Matrix	brain
27	chr11:67162800-67166800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:67162800-67166800	Strong transcription	Fetal Brain Female	brain
29	chr11:67162800-67166800	Genic enhancers	Dnd41	blood
30	chr11:67162800-67166800	Strong transcription	NHLF	lung
31	chr11:67162800-67167200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:67162800-67167400	Strong transcription	Osteobl	bone
33	chr11:67162800-67167800	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr11:67162800-67168000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr11:67163000-67166400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:67163000-67166600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr11:67163000-67166600	Strong transcription	Colonic Mucosa	Colon
38	chr11:67163000-67166800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:67163000-67167200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:67163000-67167800	Genic enhancers	Fetal Thymus	thymus
41	chr11:67163000-67168000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:67163000-67168800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:67163200-67166400	Strong transcription	Pancreas	Pancrea
44	chr11:67163200-67166800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:67163200-67166800	Strong transcription	HepG2	liver
46	chr11:67163200-67167200	Strong transcription	Ovary	ovary
47	chr11:67163400-67167800	Genic enhancers	Primary T cells from cord blood	blood
48	chr11:67163400-67167800	Genic enhancers	Fetal Muscle Leg	muscle
49	chr11:67163400-67168000	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr11:67163600-67167200	Strong transcription	Brain Angular Gyrus	brain

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