Variant report

Variant	rs13044759
Chromosome Location	chr20:25484623-25484624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17857107	1.00[CHB][hapmap]
rs34345105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34891331	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs35427265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6076383	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs6115203	1.00[CHB][hapmap]
rs6115249	1.00[CHB][hapmap]
rs71337908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7343858	1.00[CHB][hapmap]
rs74173675	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1056997	chr20:25316663-25492339	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1067379	chr20:25355484-25593240	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 target site	24 gene(s)	inside rSNPs	diseases
4	nsv1060591	chr20:25388781-25628750	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv544223	chr20:25388781-25628750	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	23 gene(s)	inside rSNPs	diseases
6	nsv1067441	chr20:25397566-25615439	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv912828	chr20:25433015-25595175	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1062452	chr20:25438025-25590278	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1066066	chr20:25439367-25588016	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv544224	chr20:25439367-25588016	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv912829	chr20:25444242-25595175	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv912830	chr20:25449945-25595175	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS 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	11 gene(s)	inside rSNPs	diseases
13	nsv912831	chr20:25449945-25595868	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv994976	chr20:25466406-25593286	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv534623	chr20:25466406-25593296	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1062765	chr20:25466482-25556751	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv544225	chr20:25466482-25556751	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25427200-25488200	Weak transcription	Stomach Mucosa	stomach
2	chr20:25446000-25489600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr20:25446400-25488200	Weak transcription	Right Atrium	heart
4	chr20:25448200-25490600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr20:25451400-25488800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr20:25453400-25494400	Strong transcription	Brain Germinal Matrix	brain
7	chr20:25457800-25489000	Weak transcription	Placenta	Placenta
8	chr20:25459800-25489800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr20:25462800-25488200	Weak transcription	Colonic Mucosa	Colon
10	chr20:25465600-25490000	Weak transcription	Brain Angular Gyrus	brain
11	chr20:25465800-25488000	Weak transcription	Fetal Kidney	kidney
12	chr20:25467400-25491800	Weak transcription	Primary T cells from cord blood	blood
13	chr20:25467600-25488000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr20:25470000-25488000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:25470000-25488000	Weak transcription	Osteobl	bone
16	chr20:25471000-25488200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr20:25473200-25487800	Weak transcription	Fetal Heart	heart
18	chr20:25473400-25494400	Strong transcription	Fetal Brain Female	brain
19	chr20:25473600-25494600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr20:25473600-25494600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr20:25473800-25485800	Strong transcription	Fetal Intestine Small	intestine
22	chr20:25473800-25494200	Strong transcription	Thymus	Thymus
23	chr20:25474400-25495200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:25474600-25494800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:25474800-25493400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr20:25475400-25494000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr20:25475400-25498000	Weak transcription	Right Ventricle	heart
28	chr20:25477000-25494800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr20:25477400-25495200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr20:25478000-25488000	Weak transcription	NH-A	brain
31	chr20:25478200-25488000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr20:25478200-25494800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr20:25478400-25487800	Strong transcription	A549	lung
34	chr20:25478400-25490000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:25478600-25488400	Weak transcription	HSMM	muscle
36	chr20:25478800-25490400	Weak transcription	Fetal Thymus	thymus
37	chr20:25478800-25494600	Strong transcription	Fetal Muscle Leg	muscle
38	chr20:25479400-25487400	Strong transcription	HepG2	liver
39	chr20:25480400-25494600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr20:25480800-25484800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr20:25480800-25494600	Strong transcription	Fetal Lung	lung
42	chr20:25481200-25486000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:25481200-25494000	Strong transcription	Dnd41	blood
44	chr20:25481400-25486200	Strong transcription	Fetal Intestine Large	intestine
45	chr20:25481400-25494800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr20:25481600-25488200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr20:25482000-25485400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr20:25482200-25485400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:25482200-25488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr20:25482400-25488200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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