Variant report

Variant	rs11075720
Chromosome Location	chr16:69497248-69497249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs153058	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs246132	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs246138	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs246140	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs246142	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs246143	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs246144	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs246148	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743670	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4783708	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499227	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7185800	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206737	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064195	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs862349	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11075720	RP11-140H17.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69459400-69500600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:69459600-69499000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:69473400-69501600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:69473800-69499600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:69478200-69497800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr16:69478400-69498400	Weak transcription	Colonic Mucosa	Colon
7	chr16:69478400-69503200	Weak transcription	Spleen	Spleen
8	chr16:69479200-69497600	Weak transcription	Brain Angular Gyrus	brain
9	chr16:69479200-69501400	Weak transcription	Aorta	Aorta
10	chr16:69479400-69497400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr16:69479400-69497800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:69479400-69498800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:69479400-69503600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr16:69479600-69517600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:69479800-69505000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr16:69480600-69501200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:69481200-69498800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr16:69481400-69503800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:69481600-69500800	Weak transcription	Ovary	ovary
20	chr16:69482800-69500800	Weak transcription	Colon Smooth Muscle	Colon
21	chr16:69483000-69498800	Weak transcription	NHLF	lung
22	chr16:69483000-69499000	Weak transcription	Pancreas	Pancrea
23	chr16:69483000-69501400	Weak transcription	Psoas Muscle	Psoas
24	chr16:69483000-69503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:69483000-69505600	Weak transcription	Right Ventricle	heart
26	chr16:69483200-69497800	Weak transcription	Brain Anterior Caudate	brain
27	chr16:69483400-69497800	Weak transcription	Fetal Brain Female	brain
28	chr16:69483600-69503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr16:69484000-69497800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:69484000-69508200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr16:69484400-69497600	Weak transcription	Brain Hippocampus Middle	brain
32	chr16:69485400-69497400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr16:69485400-69498400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:69485400-69498800	Weak transcription	K562	blood
35	chr16:69486800-69499000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:69487800-69498400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:69487800-69500600	Strong transcription	Dnd41	blood
38	chr16:69489800-69497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:69489800-69510800	Weak transcription	Right Atrium	heart
40	chr16:69490400-69498400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr16:69490600-69497400	Strong transcription	A549	lung
42	chr16:69491000-69497800	Weak transcription	Fetal Lung	lung
43	chr16:69491400-69497400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr16:69491400-69499400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr16:69491800-69498000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr16:69491800-69498600	Strong transcription	HMEC	breast
47	chr16:69492000-69497400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr16:69492000-69499000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:69492200-69497800	Weak transcription	Brain Substantia Nigra	brain
50	chr16:69492400-69497600	Weak transcription	Brain Inferior Temporal Lobe	brain

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