Variant report

Variant	rs11698691
Chromosome Location	chr20:13492568-13492569
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2073323	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2327789	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2876356	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3789345	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3789350	0.81[EUR][1000 genomes]
rs4411781	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6033720	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033723	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033731	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6033733	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033735	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033737	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6033741	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6033745	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6042156	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042174	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042176	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042179	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042181	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6042183	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6042185	0.80[EUR][1000 genomes]
rs6042186	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6105115	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6105116	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6109908	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6109913	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6109915	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6109920	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6134882	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6134883	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6134890	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6134893	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73080067	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73080080	0.82[ASN][1000 genomes]
rs8115098	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8124555	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:53 , 50 per page) page: 1 2

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	chr20:13470200-13505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr20:13473400-13505800	Weak transcription	HSMM	muscle
5	chr20:13474400-13496800	Weak transcription	Pancreas	Pancrea
6	chr20:13478200-13503800	Weak transcription	Gastric	stomach
7	chr20:13483200-13509200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr20:13483800-13493600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr20:13483800-13493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:13484000-13493800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:13484000-13493800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr20:13484000-13493800	Weak transcription	Fetal Thymus	thymus
13	chr20:13484000-13495800	Weak transcription	Thymus	Thymus
14	chr20:13484000-13499000	Weak transcription	Aorta	Aorta
15	chr20:13484000-13502600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr20:13484000-13502600	Weak transcription	Primary T cells from cord blood	blood
17	chr20:13484000-13502600	Weak transcription	Fetal Stomach	stomach
18	chr20:13484200-13493600	Weak transcription	Fetal Intestine Small	intestine
19	chr20:13484200-13493800	Weak transcription	Primary B cells from cord blood	blood
20	chr20:13484200-13496800	Weak transcription	Left Ventricle	heart
21	chr20:13485000-13502600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
23	chr20:13485400-13493800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr20:13485800-13497400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr20:13486200-13493800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr20:13486200-13502600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr20:13487600-13515000	Weak transcription	Brain Germinal Matrix	brain
28	chr20:13488200-13502600	Weak transcription	Lung	lung
29	chr20:13488200-13502600	Weak transcription	Ovary	ovary
30	chr20:13488600-13494000	Weak transcription	Adipose Nuclei	Adipose
31	chr20:13488600-13496800	Weak transcription	NHEK	skin
32	chr20:13489000-13493800	Weak transcription	A549	lung
33	chr20:13489000-13502600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr20:13489000-13502600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr20:13489000-13502600	Weak transcription	Fetal Intestine Large	intestine
36	chr20:13489200-13514600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr20:13489400-13493800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr20:13489600-13497600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr20:13489600-13499000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr20:13490400-13502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr20:13490400-13509600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr20:13490800-13502800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr20:13491200-13495800	Weak transcription	Fetal Lung	lung
44	chr20:13491800-13495800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr20:13491800-13503400	Weak transcription	Liver	Liver
46	chr20:13492000-13495000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:13492000-13495000	Weak transcription	HepG2	liver
48	chr20:13492200-13493600	Weak transcription	Dnd41	blood
49	chr20:13492200-13499600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr20:13492200-13503800	Weak transcription	Right Ventricle	heart

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