Variant report

Variant	rs73265739
Chromosome Location	chr14:64178072-64178073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs28594107	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57382236	1.00[EUR][1000 genomes]
rs59574119	1.00[EUR][1000 genomes]
rs60622367	1.00[EUR][1000 genomes]
rs60770727	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61294226	1.00[EUR][1000 genomes]
rs6573526	1.00[EUR][1000 genomes]
rs6573527	1.00[EUR][1000 genomes]
rs7146546	0.85[AMR][1000 genomes]
rs7152052	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7154057	1.00[EUR][1000 genomes]
rs7154795	1.00[EUR][1000 genomes]
rs7155345	1.00[EUR][1000 genomes]
rs73263609	1.00[EUR][1000 genomes]
rs73263615	1.00[EUR][1000 genomes]
rs73263621	1.00[EUR][1000 genomes]
rs73263701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265704	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265710	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73265735	1.00[EUR][1000 genomes]
rs73267623	1.00[EUR][1000 genomes]
rs73280648	1.00[EUR][1000 genomes]
rs73280651	1.00[EUR][1000 genomes]
rs8004836	1.00[EUR][1000 genomes]
rs8010598	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8012866	1.00[EUR][1000 genomes]
rs8018439	1.00[EUR][1000 genomes]
rs8018580	1.00[EUR][1000 genomes]
rs8020030	1.00[EUR][1000 genomes]
rs8020691	1.00[EUR][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	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	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
4	nsv1037824	chr14:64119493-64254025	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1044325	chr14:64142976-64201537	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3432445	chr14:64162248-64191918	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64109000-64183800	Weak transcription	Spleen	Spleen
2	chr14:64130800-64192600	Weak transcription	Right Ventricle	heart
3	chr14:64137600-64180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:64139800-64178200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:64143200-64180600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:64143800-64182200	Weak transcription	Fetal Lung	lung
7	chr14:64143800-64182200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:64145200-64182000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:64145200-64182200	Weak transcription	Thymus	Thymus
10	chr14:64145200-64184600	Weak transcription	Left Ventricle	heart
11	chr14:64145200-64192600	Weak transcription	HSMM	muscle
12	chr14:64145800-64179800	Weak transcription	Hela-S3	cervix
13	chr14:64153200-64184000	Weak transcription	Liver	Liver
14	chr14:64153400-64182200	Weak transcription	Adipose Nuclei	Adipose
15	chr14:64153400-64182200	Weak transcription	Dnd41	blood
16	chr14:64154200-64179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:64154800-64184000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:64157600-64178200	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:64161000-64178400	Weak transcription	Ovary	ovary
20	chr14:64161200-64178400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:64163000-64179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:64163000-64180600	Weak transcription	Fetal Stomach	stomach
23	chr14:64166200-64183600	Weak transcription	Brain Hippocampus Middle	brain
24	chr14:64168400-64178600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr14:64168400-64180600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:64169000-64180000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:64169200-64179800	Weak transcription	K562	blood
28	chr14:64169800-64178400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:64169800-64184000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:64172600-64183600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr14:64173000-64182400	Weak transcription	Fetal Brain Male	brain
32	chr14:64174200-64180000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr14:64174200-64184400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:64174400-64179800	Weak transcription	NHEK	skin
35	chr14:64174600-64179600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:64175000-64182200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr14:64175400-64181000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:64176200-64180400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr14:64176200-64182400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:64176200-64182400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr14:64176400-64181400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr14:64176600-64179000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr14:64176600-64179000	Weak transcription	HUVEC	blood vessel
44	chr14:64177200-64181000	Enhancers	Primary B cells from peripheral blood	blood
45	chr14:64177200-64181400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr14:64177400-64178400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:64177400-64182200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:64177600-64178400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:64177600-64179000	Weak transcription	Primary T cells from cord blood	blood
50	chr14:64177600-64179000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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