Variant report

Variant	rs73899330
Chromosome Location	chr20:13483335-13483336
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1024208	1.00[ASN][1000 genomes]
rs1028849	1.00[ASN][1000 genomes]
rs12479594	1.00[ASN][1000 genomes]
rs12479746	1.00[ASN][1000 genomes]
rs12480131	1.00[ASN][1000 genomes]
rs12480277	1.00[ASN][1000 genomes]
rs12480426	1.00[ASN][1000 genomes]
rs12481107	1.00[ASN][1000 genomes]
rs16994022	1.00[AMR][1000 genomes]
rs2180570	1.00[ASN][1000 genomes]
rs55684517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56095149	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56257654	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56679048	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57808294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6033782	1.00[ASN][1000 genomes]
rs6033802	1.00[ASN][1000 genomes]
rs6042142	1.00[ASN][1000 genomes]
rs6042143	1.00[ASN][1000 genomes]
rs6042152	1.00[ASN][1000 genomes]
rs6042154	1.00[ASN][1000 genomes]
rs6042234	1.00[ASN][1000 genomes]
rs6042241	1.00[ASN][1000 genomes]
rs6042242	1.00[ASN][1000 genomes]
rs6042248	1.00[ASN][1000 genomes]
rs6042249	1.00[ASN][1000 genomes]
rs6042274	1.00[ASN][1000 genomes]
rs6042275	1.00[ASN][1000 genomes]
rs6042284	1.00[ASN][1000 genomes]
rs60686384	1.00[ASN][1000 genomes]
rs6079117	1.00[ASN][1000 genomes]
rs6105111	1.00[ASN][1000 genomes]
rs6105146	1.00[ASN][1000 genomes]
rs6109904	1.00[ASN][1000 genomes]
rs6109972	1.00[ASN][1000 genomes]
rs6109985	1.00[ASN][1000 genomes]
rs61518689	1.00[ASN][1000 genomes]
rs7261733	1.00[AMR][1000 genomes]
rs7265782	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7273332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7274078	1.00[ASN][1000 genomes]
rs73254604	1.00[ASN][1000 genomes]
rs73270770	1.00[ASN][1000 genomes]
rs73899303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73899328	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73899329	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901125	0.87[AFR][1000 genomes]
rs73901164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901178	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901182	0.97[AFR][1000 genomes];1.00[AMR][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	nsv585435	chr20:13410638-13582476	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv458871	chr20:13447896-13573415	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv585436	chr20:13447896-13573415	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	esv1922220	chr20:13483093-13483531	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13463800-13505400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr20:13464000-13493800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr20:13464200-13483400	Weak transcription	Fetal Thymus	thymus
4	chr20:13468000-13483600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr20:13468200-13483600	Weak transcription	Right Ventricle	heart
6	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:13471800-13483400	Weak transcription	Fetal Intestine Small	intestine
8	chr20:13473400-13505800	Weak transcription	HSMM	muscle
9	chr20:13474400-13483600	Weak transcription	Left Ventricle	heart
10	chr20:13474400-13496800	Weak transcription	Pancreas	Pancrea
11	chr20:13477400-13484000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr20:13478200-13503800	Weak transcription	Gastric	stomach
13	chr20:13479000-13483400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:13479200-13486200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr20:13479400-13483400	Weak transcription	Aorta	Aorta
16	chr20:13479600-13483400	Weak transcription	Fetal Stomach	stomach
17	chr20:13480000-13488200	Weak transcription	NHEK	skin
18	chr20:13480000-13490400	ZNF genes & repeats	Dnd41	blood
19	chr20:13480200-13483400	Weak transcription	Ovary	ovary
20	chr20:13480200-13484400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr20:13480400-13483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr20:13480400-13483400	Weak transcription	Thymus	Thymus
23	chr20:13480800-13483400	Weak transcription	Primary B cells from cord blood	blood
24	chr20:13481400-13483400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr20:13482000-13483600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr20:13482800-13484200	ZNF genes & repeats	Liver	Liver
27	chr20:13482800-13485800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr20:13483000-13484000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr20:13483000-13484000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr20:13483000-13484200	ZNF genes & repeats	Fetal Lung	lung
31	chr20:13483000-13484200	ZNF genes & repeats	A549	lung
32	chr20:13483200-13483600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:13483200-13484000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr20:13483200-13485200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr20:13483200-13485400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
36	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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