Variant report

Variant	rs73052089
Chromosome Location	chr12:11987078-11987079
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16907359	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907395	0.83[EUR][1000 genomes]
rs17300449	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819001	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877800	1.00[ASN][1000 genomes]
rs55981107	0.92[EUR][1000 genomes]
rs56116163	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56198451	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56338611	1.00[ASN][1000 genomes]
rs56403725	0.92[EUR][1000 genomes]
rs73052064	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052069	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052074	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73052077	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053904	1.00[ASN][1000 genomes]
rs74060865	1.00[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	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11968800-12008200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:11975200-11995200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:11975400-12009000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:11975600-11989000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:11975600-11992200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:11975600-11993000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:11975800-11989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:11976000-11992800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:11978600-11987200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:11980400-12006000	Weak transcription	HSMMtube	muscle
11	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:11981200-11992000	Weak transcription	HSMM	muscle
13	chr12:11982000-11993000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:11982400-11991400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:11982400-11993400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:11982400-11994200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:11982600-11988400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:11982600-11988400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:11982600-11988400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:11983000-11991800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:11983200-11989000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:11983200-11991200	Weak transcription	Fetal Intestine Large	intestine
23	chr12:11983200-11991600	Weak transcription	Fetal Stomach	stomach
24	chr12:11983200-11993200	Weak transcription	Fetal Lung	lung
25	chr12:11983600-11987200	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:11983600-11988400	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:11983600-11988400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:11983600-11988600	Weak transcription	Thymus	Thymus
29	chr12:11983600-11989600	Weak transcription	Lung	lung
30	chr12:11983600-11990400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:11983600-12004400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:11983600-12008200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:11983600-12008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:11983800-11987600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:11983800-11987600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:11983800-11987800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:11983800-11988400	Weak transcription	Psoas Muscle	Psoas
38	chr12:11983800-11988800	Weak transcription	Primary T cells from cord blood	blood
39	chr12:11983800-11988800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:11983800-11989000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:11983800-11989000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:11983800-11989600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:11983800-11989600	Weak transcription	Ovary	ovary
44	chr12:11983800-11991200	Weak transcription	Placenta	Placenta
45	chr12:11983800-12008200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:11984000-11989600	Weak transcription	Fetal Heart	heart
47	chr12:11984000-11992200	Weak transcription	NHEK	skin
48	chr12:11984200-11991400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:11984200-11993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:11984400-11991200	Weak transcription	Fetal Muscle Trunk	muscle

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