Variant report

Variant	rs13066923
Chromosome Location	chr3:20104933-20104934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20096569..20098445-chr3:20104189..20106827,2	MCF-7	breast:
2	chr3:19987687..19990266-chr3:20104517..20106901,2	K562	blood:

Variant related genes	Relation type
ENSG00000163576	Chromatin interaction
ENSG00000144566	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11713069	1.00[ASN][1000 genomes]
rs13066876	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069629	1.00[ASN][1000 genomes]
rs13095743	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13096876	1.00[ASN][1000 genomes]
rs13097157	1.00[ASN][1000 genomes]
rs13097409	1.00[ASN][1000 genomes]
rs13098588	1.00[ASN][1000 genomes]
rs17182383	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17627750	0.83[ASN][1000 genomes]
rs17627906	0.83[ASN][1000 genomes]
rs17627936	0.83[ASN][1000 genomes]
rs17678713	0.83[ASN][1000 genomes]
rs17796904	1.00[ASN][1000 genomes]
rs17804451	1.00[ASN][1000 genomes]
rs34204839	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34515517	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572705	1.00[ASN][1000 genomes]
rs35424474	1.00[ASN][1000 genomes]
rs35632245	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35645247	1.00[ASN][1000 genomes]
rs35659955	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35776229	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35841175	1.00[ASN][1000 genomes]
rs36029475	1.00[ASN][1000 genomes]
rs3960789	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41285061	1.00[ASN][1000 genomes]
rs4241545	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858156	1.00[ASN][1000 genomes]
rs4858751	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858752	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858755	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858763	1.00[ASN][1000 genomes]
rs4858765	1.00[ASN][1000 genomes]
rs4858768	1.00[ASN][1000 genomes]
rs55812129	0.83[ASN][1000 genomes]
rs71316246	1.00[ASN][1000 genomes]
rs71316248	1.00[ASN][1000 genomes]
rs71316249	1.00[ASN][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	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised 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	9 gene(s)	inside rSNPs	diseases
8	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases
9	nsv834627	chr3:20068115-20227975	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv433359	chr3:20090908-20587572	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv470450	chr3:20096735-20389045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	esv3334948	chr3:20102448-20105046	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20096600-20106400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:20097200-20106400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:20099000-20122600	Weak transcription	Aorta	Aorta
4	chr3:20099200-20106000	Weak transcription	Right Ventricle	heart
5	chr3:20099400-20105400	Weak transcription	Brain Angular Gyrus	brain
6	chr3:20099400-20105800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:20099400-20106400	Weak transcription	Ovary	ovary
8	chr3:20099400-20106600	Weak transcription	Pancreas	Pancrea
9	chr3:20099400-20108600	Weak transcription	Fetal Stomach	stomach
10	chr3:20099400-20112600	Weak transcription	HSMMtube	muscle
11	chr3:20099400-20112800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:20099400-20122600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:20099400-20122800	Weak transcription	Lung	lung
14	chr3:20099600-20106000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:20099800-20106600	Weak transcription	Spleen	Spleen
16	chr3:20100000-20109200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:20100400-20105200	Weak transcription	Thymus	Thymus
18	chr3:20100400-20105400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:20102800-20105800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr3:20102800-20106000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:20102800-20106400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:20102800-20113400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr3:20102800-20136800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr3:20103000-20106000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:20103000-20106000	Weak transcription	Right Atrium	heart
26	chr3:20103000-20106000	Weak transcription	Small Intestine	intestine
27	chr3:20103000-20106600	Weak transcription	Adipose Nuclei	Adipose
28	chr3:20103000-20106600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:20103000-20108400	Weak transcription	Fetal Thymus	thymus
30	chr3:20103000-20108400	Weak transcription	Osteobl	bone
31	chr3:20103000-20111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:20103200-20105200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:20103200-20105200	Weak transcription	HMEC	breast
34	chr3:20103200-20105400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:20103200-20105400	Weak transcription	NHEK	skin
36	chr3:20103200-20105800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:20103200-20105800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:20103200-20105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:20103200-20106000	Weak transcription	Brain Anterior Caudate	brain
40	chr3:20103200-20106400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr3:20103200-20106400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr3:20103200-20106400	Weak transcription	Fetal Lung	lung
43	chr3:20103200-20107600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr3:20103200-20108400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:20103200-20108400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:20103200-20108600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:20103200-20108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr3:20103200-20108600	Weak transcription	NHDF-Ad	bronchial
49	chr3:20103200-20108800	Weak transcription	A549	lung
50	chr3:20103200-20110400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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