Variant report

Variant	rs1058068
Chromosome Location	chr11:65667796-65667797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65549748..65553562-chr11:65663861..65667886,4	K562	blood:
2	chr11:65546756..65549287-chr11:65665686..65670324,5	K562	blood:
3	chr11:65381231..65384129-chr11:65666512..65668944,3	K562	blood:
4	chr11:65343176..65345868-chr11:65665917..65668139,2	K562	blood:
5	chr11:65546164..65550034-chr11:65665205..65668429,3	MCF-7	breast:
6	chr11:65666218..65668935-chr11:65825625..65827818,2	K562	blood:
7	chr11:65666594..65669601-chr11:65818513..65821111,3	K562	blood:
8	chr11:65666258..65667865-chr11:65755112..65756904,2	MCF-7	breast:
9	chr11:65666389..65668880-chr11:66033377..66036542,3	K562	blood:
10	chr11:65477813..65481606-chr11:65666107..65669263,4	K562	blood:
11	chr11:65381788..65384683-chr11:65666301..65668827,4	K562	blood:
12	chr11:65667671..65668334-chr6:26020656..26021303,2	Hela-S3	cervix:
13	chr11:65667623..65668159-chr19:12901911..12902797,2	Hela-S3	cervix:
14	chr11:65665429..65670947-chr11:65725068..65731705,14	MCF-7	breast:
15	chr11:65188738..65191479-chr11:65666779..65669038,2	K562	blood:
16	chr11:65339875..65342450-chr11:65666434..65669137,3	K562	blood:
17	chr11:65667371..65667978-chr11:93474371..93474937,2	HCT-116	colon:
18	chr11:65342557..65345868-chr11:65665917..65668139,3	K562	blood:
19	chr11:65622512..65626950-chr11:65664131..65668520,8	MCF-7	breast:
20	chr11:65546756..65549287-chr11:65665395..65667925,3	K562	blood:
21	chr11:65665582..65668888-chr11:65835107..65838015,3	K562	blood:
22	chr11:65263558..65266439-chr11:65666909..65668740,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198366	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000176973	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000173442	Chromatin interaction
ENSG00000166012	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000087365	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10160792	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1151523	0.94[EUR][1000 genomes]
rs500161	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs526631	0.93[EUR][1000 genomes]
rs556872	0.90[EUR][1000 genomes]
rs574586	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs575479	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs589253	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs590871	0.95[EUR][1000 genomes]
rs634534	0.92[EUR][1000 genomes]
rs637571	0.86[EUR][1000 genomes]
rs653236	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs653914	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs669371	0.95[EUR][1000 genomes]
rs677029	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs689274	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv39194	chr11:65665530-65672457	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65663000-65667800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65664800-65668200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:65665400-65668200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:65665400-65668200	Active TSS	A549	lung
5	chr11:65665400-65668200	Active TSS	HSMMtube	muscle
6	chr11:65665400-65668600	Active TSS	NH-A	brain
7	chr11:65666000-65667800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:65666000-65668200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:65666000-65668400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:65666000-65668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:65666000-65668400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:65666200-65667800	Active TSS	NHDF-Ad	bronchial
13	chr11:65666200-65668200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:65666200-65668400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65666200-65668400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:65666200-65668400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr11:65666200-65668400	Active TSS	HSMM	muscle
18	chr11:65666400-65667800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:65666400-65667800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
20	chr11:65666400-65668000	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr11:65666400-65668200	Active TSS	Brain Substantia Nigra	brain
22	chr11:65666400-65668200	Flanking Bivalent TSS/Enh	Dnd41	blood
23	chr11:65666400-65668200	Active TSS	HUVEC	blood vessel
24	chr11:65666400-65668400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:65666400-65668400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:65666400-65668400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:65666400-65668400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr11:65666400-65668400	Active TSS	Osteobl	bone
29	chr11:65666400-65668600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr11:65666600-65667800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:65666600-65667800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr11:65666600-65667800	Flanking Active TSS	Pancreas	Pancrea
33	chr11:65666600-65668000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:65666600-65668000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr11:65666600-65668000	Active TSS	Aorta	Aorta
36	chr11:65666600-65668000	Active TSS	Gastric	stomach
37	chr11:65666600-65668200	Active TSS	Left Ventricle	heart
38	chr11:65666600-65668200	Active TSS	Hela-S3	cervix
39	chr11:65666600-65668200	Active TSS	HMEC	breast
40	chr11:65666600-65668200	Active TSS	K562	blood
41	chr11:65666600-65668200	Active TSS	NHEK	skin
42	chr11:65666600-65668200	Active TSS	NHLF	lung
43	chr11:65666600-65668400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr11:65666600-65668400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:65666600-65668400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:65666600-65668400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:65666600-65668400	Flanking Active TSS	Right Ventricle	heart
48	chr11:65666800-65667800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:65666800-65667800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:65666800-65667800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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