Variant report

Variant	rs17101458
Chromosome Location	chr14:64387065-64387066
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12879465	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12882341	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12887573	0.85[CEU][hapmap]
rs12889259	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12892555	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379083	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17101419	1.00[JPT][hapmap]
rs17101464	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1959033	0.85[CEU][hapmap]
rs28494507	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28583954	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28783479	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34356347	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35103832	0.85[CEU][hapmap]
rs35224125	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35714141	0.82[AMR][1000 genomes]
rs35859453	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36114301	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73269821	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73269826	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011351	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9323441	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[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	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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
2	chr14:64364600-64387800	Weak transcription	HMEC	breast
3	chr14:64365000-64430200	Weak transcription	Fetal Brain Male	brain
4	chr14:64365400-64393600	Weak transcription	Right Ventricle	heart
5	chr14:64374600-64399600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:64375200-64395000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:64375200-64395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:64375800-64388600	Weak transcription	Hela-S3	cervix
9	chr14:64375800-64389000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:64375800-64393200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:64376000-64389000	Weak transcription	Adipose Nuclei	Adipose
12	chr14:64376000-64389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:64376000-64389600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:64376000-64389600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:64376000-64391200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr14:64376000-64399200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr14:64376000-64399600	Weak transcription	Small Intestine	intestine
18	chr14:64376000-64399800	Weak transcription	Primary T cells from cord blood	blood
19	chr14:64376000-64416200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:64376200-64399400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:64376400-64394000	Weak transcription	Lung	lung
22	chr14:64377600-64388000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:64377600-64389400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:64378000-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:64378000-64394800	Weak transcription	Fetal Heart	heart
26	chr14:64378000-64404800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:64378000-64416200	Weak transcription	Fetal Lung	lung
28	chr14:64378200-64389200	Weak transcription	Brain Germinal Matrix	brain
29	chr14:64378400-64416000	Weak transcription	Primary B cells from cord blood	blood
30	chr14:64378600-64389400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:64378800-64390600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:64378800-64401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:64379200-64389600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:64379800-64389200	Weak transcription	Placenta	Placenta
35	chr14:64379800-64409000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:64381400-64395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:64381600-64388800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:64383600-64389800	Weak transcription	GM12878-XiMat	blood
39	chr14:64384200-64389400	Weak transcription	HepG2	liver
40	chr14:64384200-64399600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:64384400-64388800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:64384600-64388000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:64384600-64389400	Weak transcription	Fetal Intestine Large	intestine
44	chr14:64384800-64387200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:64385200-64391600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:64385400-64387400	Strong transcription	Fetal Brain Female	brain
47	chr14:64385400-64388600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:64385400-64388800	Weak transcription	Stomach Mucosa	stomach
49	chr14:64385600-64395600	Weak transcription	Ovary	ovary
50	chr14:64385800-64387400	Strong transcription	Dnd41	blood

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