Variant report

Variant	rs8011351
Chromosome Location	chr14:64399206-64399207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12879465	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12882341	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12889259	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892555	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12893130	0.84[AFR][1000 genomes]
rs12893339	0.84[AFR][1000 genomes]
rs12895742	0.82[AFR][1000 genomes]
rs13379083	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17101458	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17101464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28494507	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28583954	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28783479	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34356347	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35224125	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35714141	0.89[AMR][1000 genomes]
rs35859453	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36114301	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7159785	0.84[AFR][1000 genomes]
rs73269821	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73269826	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323441	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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 target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv564904	chr14:64346190-64416898	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1793389	chr14:64346190-64457224	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
3	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
5	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
10	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:64378800-64401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:64379800-64409000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr14:64384200-64399600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:64386400-64403800	Weak transcription	Esophagus	oesophagus
15	chr14:64386400-64405600	Weak transcription	Pancreas	Pancrea
16	chr14:64386600-64403400	Weak transcription	Gastric	stomach
17	chr14:64387000-64404200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr14:64387000-64416400	Weak transcription	Aorta	Aorta
19	chr14:64387200-64399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:64387400-64399800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:64390200-64399400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:64390200-64399400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:64390200-64399400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr14:64390200-64400600	Weak transcription	Right Atrium	heart
25	chr14:64390200-64416400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:64390400-64399400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:64390400-64399400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:64390600-64399600	Weak transcription	NHEK	skin
29	chr14:64390600-64418800	Weak transcription	HepG2	liver
30	chr14:64390800-64399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64390800-64399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:64390800-64399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:64390800-64399600	Weak transcription	Stomach Mucosa	stomach
34	chr14:64390800-64404000	Weak transcription	Placenta	Placenta
35	chr14:64390800-64408600	Weak transcription	Fetal Intestine Large	intestine
36	chr14:64391000-64400000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:64391600-64399400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:64392000-64399400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:64392000-64405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:64392000-64409000	Weak transcription	Fetal Intestine Small	intestine
41	chr14:64392200-64399600	Weak transcription	Brain Germinal Matrix	brain
42	chr14:64393200-64419800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:64393600-64399400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:64393800-64399600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:64393800-64403200	Weak transcription	Spleen	Spleen
46	chr14:64393800-64414800	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:64394200-64399400	Weak transcription	GM12878-XiMat	blood
48	chr14:64394200-64403400	Weak transcription	Right Ventricle	heart
49	chr14:64395000-64403200	Weak transcription	Left Ventricle	heart
50	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas

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