Variant report

Variant	rs73239117
Chromosome Location	chr3:113147350-113147351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113146276..113148962-chr3:113155002..113157279,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10934229	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10934230	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10934231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923005	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12233528	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12630518	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12635786	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12636607	0.84[AMR][1000 genomes]
rs12636959	0.80[EUR][1000 genomes]
rs12637924	0.86[EUR][1000 genomes]
rs16860850	0.81[EUR][1000 genomes]
rs16860868	0.81[EUR][1000 genomes]
rs16860899	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2291413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3732806	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4682136	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4682137	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4682485	0.81[EUR][1000 genomes]
rs55667700	0.81[EUR][1000 genomes]
rs55710804	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55748551	0.81[EUR][1000 genomes]
rs55757335	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56339567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60329418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62265992	0.81[EUR][1000 genomes]
rs6779002	0.86[AMR][1000 genomes]
rs6779305	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73235059	0.80[EUR][1000 genomes]
rs73235065	0.81[EUR][1000 genomes]
rs73237104	0.86[EUR][1000 genomes]
rs73237110	0.86[EUR][1000 genomes]
rs73237123	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73237130	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73237136	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73237142	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73237143	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73237146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73239107	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73239111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73239120	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73239121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239126	0.86[EUR][1000 genomes]
rs7625933	0.83[AMR][1000 genomes]
rs763805	0.80[EUR][1000 genomes]
rs8179926	0.86[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113102200-113148800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:113109200-113159800	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:113112200-113148400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:113117600-113148400	Weak transcription	Placenta	Placenta
6	chr3:113133200-113147800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:113134600-113159800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:113135200-113164600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:113136000-113176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:113137400-113148600	Weak transcription	Small Intestine	intestine
11	chr3:113137400-113160000	Weak transcription	Fetal Stomach	stomach
12	chr3:113140000-113160000	Weak transcription	Psoas Muscle	Psoas
13	chr3:113141400-113147800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:113143000-113147400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:113143400-113147600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:113143600-113148000	Strong transcription	Left Ventricle	heart
17	chr3:113143800-113147400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:113143800-113147800	Strong transcription	Ovary	ovary
19	chr3:113144000-113147400	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr3:113144200-113151400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:113144400-113147600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr3:113145000-113147600	Strong transcription	A549	lung
23	chr3:113145800-113147400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:113145800-113147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:113145800-113147400	Weak transcription	Pancreas	Pancrea
26	chr3:113145800-113147400	Weak transcription	HSMM	muscle
27	chr3:113145800-113147600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:113145800-113147600	Strong transcription	Primary T cells from cord blood	blood
29	chr3:113145800-113147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr3:113145800-113149000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:113145800-113149800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr3:113145800-113150200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr3:113145800-113155800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:113145800-113159400	Weak transcription	Gastric	stomach
35	chr3:113145800-113159400	Weak transcription	HSMMtube	muscle
36	chr3:113145800-113159600	Weak transcription	Lung	lung
37	chr3:113145800-113159800	Weak transcription	Esophagus	oesophagus
38	chr3:113145800-113159800	Weak transcription	Fetal Muscle Leg	muscle
39	chr3:113145800-113159800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:113145800-113159800	Weak transcription	Thymus	Thymus
41	chr3:113145800-113160000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr3:113145800-113160200	Weak transcription	Aorta	Aorta
43	chr3:113145800-113166000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:113145800-113176600	Weak transcription	Spleen	Spleen
45	chr3:113146000-113147600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr3:113146000-113147600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr3:113146000-113148200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:113146000-113148400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:113146000-113148400	Weak transcription	Fetal Lung	lung
50	chr3:113146000-113150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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