Variant report

Variant	rs68007865
Chromosome Location	chr20:25229978-25229979
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:25228557..25231308-chr20:25476839..25479017,2	MCF-7	breast:
2	chr20:25189131..25190922-chr20:25228814..25231748,2	MCF-7	breast:
3	chr20:24971839..24974533-chr20:25228512..25230139,2	MCF-7	breast:
4	chr20:25200007..25207026-chr20:25227086..25230373,11	MCF-7	breast:
5	chr20:25174902..25179249-chr20:25225017..25231959,9	MCF-7	breast:
6	chr20:25228549..25230437-chr20:25281061..25283760,2	MCF-7	breast:
7	chr20:25202506..25206898-chr20:25226343..25231297,7	MCF-7	breast:
8	chr12:53339776..53342666-chr20:25227973..25230849,2	MCF-7	breast:
9	chr20:25119092..25121344-chr20:25229044..25231163,2	MCF-7	breast:
10	chr20:25174010..25179528-chr20:25225802..25231331,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000101474	Chromatin interaction
ENSG00000197586	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000100997	Chromatin interaction
ENSG00000101004	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11087506	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11699316	0.85[EUR][1000 genomes]
rs12480898	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12625357	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2281558	0.94[ASN][1000 genomes]
rs2281561	0.87[EUR][1000 genomes]
rs34348191	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3787080	0.93[ASN][1000 genomes]
rs6115113	0.92[ASN][1000 genomes]
rs67704588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68154819	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS 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 target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv828708	chr20:25223895-25231601	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25227600-25230000	Active TSS	Fetal Brain Female	brain
2	chr20:25227600-25230200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr20:25227600-25231200	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr20:25227800-25230000	Active TSS	A549	lung
5	chr20:25227800-25230200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr20:25227800-25230800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:25227800-25230800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:25227800-25231000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:25227800-25231200	Active TSS	Left Ventricle	heart
10	chr20:25227800-25231600	Active TSS	Right Atrium	heart
11	chr20:25228000-25230000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr20:25228000-25230000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr20:25228000-25230000	Active TSS	NHDF-Ad	bronchial
14	chr20:25228000-25230200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr20:25228000-25230200	Active TSS	Psoas Muscle	Psoas
16	chr20:25228000-25230200	Active TSS	Stomach Mucosa	stomach
17	chr20:25228000-25230600	Active TSS	NHEK	skin
18	chr20:25228000-25230800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr20:25228000-25230800	Active TSS	Aorta	Aorta
20	chr20:25228000-25230800	Active TSS	Rectal Smooth Muscle	rectum
21	chr20:25228000-25230800	Active TSS	HMEC	breast
22	chr20:25228000-25230800	Active TSS	HSMM	muscle
23	chr20:25228200-25230000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr20:25228200-25230000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr20:25228200-25230000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr20:25228200-25230000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr20:25228200-25230000	Active TSS	Brain Cingulate Gyrus	brain
28	chr20:25228200-25230000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr20:25228200-25230600	Active TSS	Esophagus	oesophagus
30	chr20:25228200-25230800	Active TSS	Brain Angular Gyrus	brain
31	chr20:25228200-25230800	Active TSS	Brain Anterior Caudate	brain
32	chr20:25228200-25230800	Active TSS	Colon Smooth Muscle	Colon
33	chr20:25228200-25230800	Active TSS	HSMMtube	muscle
34	chr20:25228200-25232400	Active TSS	Right Ventricle	heart
35	chr20:25228400-25230000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr20:25228400-25230000	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr20:25228400-25230000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr20:25228400-25230000	Active TSS	Fetal Muscle Leg	muscle
39	chr20:25228400-25230200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr20:25228400-25230400	Active TSS	Brain Hippocampus Middle	brain
41	chr20:25228400-25230600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr20:25228400-25230600	Active TSS	Brain Germinal Matrix	brain
43	chr20:25228400-25231000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr20:25228400-25231000	Active TSS	GM12878-XiMat	blood
45	chr20:25228600-25230000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr20:25228600-25230000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr20:25228600-25230000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:25228600-25230000	Active TSS	Stomach Smooth Muscle	stomach
49	chr20:25228600-25230200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr20:25228600-25230200	Active TSS	Fetal Brain Male	brain

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