Variant report

Variant	rs4813143
Chromosome Location	chr20:13792741-13792742
allele	A/C
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:19)

rs_ID	r²[population]
rs10485767	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12625600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.96[YRI][hapmap]
rs28680787	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4813145	0.88[AFR][1000 genomes]
rs4814253	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs60914078	0.89[AFR][1000 genomes]
rs6105160	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6105163	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs6105169	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6110019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs6110023	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs6110030	0.83[EUR][1000 genomes]
rs6110037	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6110048	0.90[AFR][1000 genomes]
rs6110050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6514441	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7360405	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs736365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061303	chr20:13395546-13810990	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916202	chr20:13421724-14043615	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1059817	chr20:13422602-13807968	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1066810	chr20:13451869-14432454	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912689	chr20:13570331-14155881	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv531478	chr20:13580524-13814797	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
7	nsv1059221	chr20:13589432-13977327	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv531479	chr20:13632491-14434432	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13766400-13793800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:13766400-13796800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:13767600-13799600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:13767800-13799400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:13767800-13800600	Weak transcription	Stomach Mucosa	stomach
6	chr20:13768000-13794800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr20:13768000-13799800	Strong transcription	Fetal Thymus	thymus
8	chr20:13768200-13799800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:13768200-13799800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr20:13768400-13799600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr20:13768600-13799600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr20:13768800-13799600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr20:13769000-13799600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr20:13769200-13799600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr20:13769400-13799400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr20:13769400-13802000	Strong transcription	A549	lung
17	chr20:13769600-13799400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr20:13770200-13799600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr20:13770600-13799400	Strong transcription	Primary T cells from cord blood	blood
20	chr20:13773600-13799400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr20:13779200-13799600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr20:13780800-13800800	Strong transcription	Placenta	Placenta
23	chr20:13781600-13800000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:13781800-13798200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr20:13781800-13799000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr20:13781800-13799400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr20:13781800-13799400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr20:13782000-13799400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr20:13782200-13799600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr20:13782400-13792800	Strong transcription	Adipose Nuclei	Adipose
31	chr20:13782600-13792800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr20:13783000-13799400	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr20:13783600-13802000	Strong transcription	Dnd41	blood
34	chr20:13784400-13799600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr20:13785400-13799400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr20:13785400-13799600	Strong transcription	Left Ventricle	heart
37	chr20:13786200-13797400	Strong transcription	Fetal Stomach	stomach
38	chr20:13786200-13799600	Strong transcription	Thymus	Thymus
39	chr20:13786400-13793000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:13786800-13797200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr20:13786800-13799400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:13786800-13799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr20:13787000-13793400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr20:13787200-13794200	Strong transcription	Liver	Liver
45	chr20:13787400-13796000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr20:13787400-13799400	Strong transcription	Lung	lung
47	chr20:13787400-13799600	Strong transcription	GM12878-XiMat	blood
48	chr20:13787600-13793200	Strong transcription	Pancreas	Pancrea
49	chr20:13787600-13798600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr20:13787600-13799800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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