Variant report

Variant	rs12101069
Chromosome Location	chr14:39595793-39595794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17108830	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17108834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291552	0.89[AMR][1000 genomes]
rs73291555	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012200	0.87[AFR][1000 genomes]
rs8018196	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8018378	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9671480	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs9671928	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:39584600-39603600	Weak transcription	K562	blood
14	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:39586200-39598600	Strong transcription	Dnd41	blood
24	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:39586600-39610600	Strong transcription	HepG2	liver
26	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:39587000-39595800	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr14:39587000-39596400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:39587400-39598600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:39587600-39596000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr14:39587600-39597000	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:39587600-39598600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:39588000-39596200	Strong transcription	Primary T cells from cord blood	blood
37	chr14:39588000-39602000	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:39588200-39596000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:39588400-39596600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
41	chr14:39589200-39604800	Weak transcription	HSMMtube	muscle
42	chr14:39589200-39609200	Weak transcription	Gastric	stomach
43	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
46	chr14:39589400-39597800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:39589600-39603000	Weak transcription	NHEK	skin
48	chr14:39590200-39597200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:39590400-39597000	Strong transcription	Thymus	Thymus
50	chr14:39591000-39597400	Weak transcription	Fetal Lung	lung

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