Variant report

Variant	rs58952057
Chromosome Location	chr14:68216759-68216760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10130204	0.97[AFR][1000 genomes]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	1.00[EUR][1000 genomes]
rs10136738	1.00[EUR][1000 genomes]
rs10139064	1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10145933	1.00[EUR][1000 genomes]
rs10146242	1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[EUR][1000 genomes]
rs17104587	1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234512	1.00[EUR][1000 genomes]
rs2295109	1.00[EUR][1000 genomes]
rs2295110	1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28844401	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	1.00[EUR][1000 genomes]
rs4902492	1.00[EUR][1000 genomes]
rs4902510	1.00[EUR][1000 genomes]
rs4902516	1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs59945885	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143223	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	1.00[EUR][1000 genomes]
rs7765	1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[EUR][1000 genomes]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[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	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054697	chr14:68202004-68345982	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
4	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
5	chr14:68206200-68251000	Weak transcription	K562	blood
6	chr14:68206400-68216800	Weak transcription	NHEK	skin
7	chr14:68206800-68217600	Weak transcription	HepG2	liver
8	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:68211000-68217200	Weak transcription	Fetal Kidney	kidney
10	chr14:68211400-68218800	Weak transcription	Psoas Muscle	Psoas
11	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
12	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:68212800-68222200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr14:68212800-68224000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:68212800-68224400	Strong transcription	Brain Hippocampus Middle	brain
16	chr14:68212800-68225400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:68212800-68225400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
19	chr14:68213000-68218800	Weak transcription	HUVEC	blood vessel
20	chr14:68213000-68225400	Strong transcription	Adipose Nuclei	Adipose
21	chr14:68213000-68225400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:68213200-68221800	Strong transcription	Brain Angular Gyrus	brain
27	chr14:68213200-68223400	Strong transcription	Primary B cells from cord blood	blood
28	chr14:68213200-68224400	Strong transcription	Primary T cells from cord blood	blood
29	chr14:68213200-68229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68213400-68222200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:68213400-68225400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:68213600-68218000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:68213600-68222600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr14:68213600-68225200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:68213600-68229200	Strong transcription	Placenta	Placenta
38	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:68213800-68222200	Strong transcription	Left Ventricle	heart
40	chr14:68213800-68222200	Strong transcription	Ovary	ovary
41	chr14:68213800-68223000	Strong transcription	Lung	lung
42	chr14:68213800-68225400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:68213800-68225800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:68213800-68228800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:68213800-68237000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:68213800-68280600	Strong transcription	Liver	Liver
47	chr14:68214000-68222200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:68214000-68222800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr14:68214000-68223000	Strong transcription	Aorta	Aorta
50	chr14:68214000-68224200	Strong transcription	Thymus	Thymus

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