Variant report

Variant	rs11889206
Chromosome Location	chr2:20092032-20092033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20091934..20093841-chr2:20217101..20219993,2	K562	blood:
2	chr2:19977143..19979803-chr2:20091279..20093604,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10169398	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10175095	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10197385	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10208878	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10495701	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1060742	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11096632	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11888045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052274	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12613209	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12617761	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12620863	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13415707	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13421472	0.83[ASN][1000 genomes]
rs1381817	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16987265	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2293671	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28477921	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28502265	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35957485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109397	0.83[ASN][1000 genomes]
rs62109398	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62109399	0.83[ASN][1000 genomes]
rs62109404	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62109406	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62109413	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62109415	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62109416	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62109418	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62109419	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62109420	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62109421	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62109426	1.00[AFR][1000 genomes]
rs6707471	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6719397	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6755153	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7563410	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572167	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7589478	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594214	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11889206	TTC32	cis	Adipose Subcutaneous	GTEx
rs11889206	TTC32	cis	lung	GTEx
rs11889206	TTC32	cis	Heart Left Ventricle	GTEx
rs11889206	TTC32	cis	Esophagus Mucosa	GTEx
rs11889206	TTC32	Cis_1M	lymphoblastoid	RTeQTL
rs11889206	TTC32	cis	Thyroid	GTEx
rs11889206	TTC32	cis	Stomach	GTEx
rs11889206	TTC32	cis	Esophagus Muscularis	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20068800-20097200	Weak transcription	Aorta	Aorta
2	chr2:20069000-20098200	Weak transcription	Right Atrium	heart
3	chr2:20069800-20097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:20075400-20097600	Weak transcription	Fetal Kidney	kidney
5	chr2:20076400-20093600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:20076400-20097200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:20076600-20097400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:20076600-20098200	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:20076800-20095400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:20076800-20095800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:20076800-20097200	Weak transcription	Fetal Thymus	thymus
12	chr2:20076800-20098400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:20076800-20099800	Weak transcription	Fetal Intestine Large	intestine
14	chr2:20079200-20098600	Weak transcription	Fetal Intestine Small	intestine
15	chr2:20079400-20097200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:20079800-20099000	Weak transcription	Thymus	Thymus
17	chr2:20081800-20095200	Weak transcription	Primary T cells from cord blood	blood
18	chr2:20083000-20095400	Weak transcription	Fetal Brain Female	brain
19	chr2:20086400-20097400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:20086600-20095400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:20086600-20097400	Weak transcription	HMEC	breast
22	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:20087200-20097400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:20087400-20097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:20088400-20098200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:20089000-20095200	Weak transcription	Dnd41	blood
28	chr2:20089000-20097200	Weak transcription	Adipose Nuclei	Adipose
29	chr2:20089200-20097200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:20089200-20097400	Weak transcription	Brain Anterior Caudate	brain
31	chr2:20089400-20097000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:20089400-20097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:20089600-20094200	Weak transcription	K562	blood
34	chr2:20089600-20097200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:20089600-20097400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:20089600-20097400	Weak transcription	NHEK	skin
37	chr2:20089600-20097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20089600-20098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:20089800-20092800	Weak transcription	NHDF-Ad	bronchial
40	chr2:20089800-20095400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:20089800-20095600	Weak transcription	Osteobl	bone
42	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:20090200-20092400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:20090200-20093400	Weak transcription	Brain Germinal Matrix	brain
45	chr2:20090200-20095000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:20090200-20097200	Weak transcription	Fetal Heart	heart
47	chr2:20090200-20097400	Weak transcription	Brain Substantia Nigra	brain
48	chr2:20090400-20096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:20090400-20097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:20090400-20098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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