Variant report

Variant	rs7147365
Chromosome Location	chr14:68215764-68215765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10129402	1.00[AMR][1000 genomes]
rs10148493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148929	1.00[AMR][1000 genomes]
rs10150303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11625247	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12435419	1.00[AMR][1000 genomes]
rs12882546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12894770	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474796	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1535088	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955471	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092691	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902505	0.94[AFR][1000 genomes]
rs4902513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902515	0.83[AFR][1000 genomes]
rs6573798	1.00[AMR][1000 genomes]
rs7143260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7159735	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280448	1.00[EUR][1000 genomes]
rs8006137	1.00[AMR][1000 genomes]
rs8011138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017085	0.98[AFR][1000 genomes];1.00[AMR][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	chr14:68206000-68216200	Weak transcription	NH-A	brain
6	chr14:68206200-68251000	Weak transcription	K562	blood
7	chr14:68206400-68216800	Weak transcription	NHEK	skin
8	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:68206800-68217600	Weak transcription	HepG2	liver
10	chr14:68210800-68217600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:68211000-68217200	Weak transcription	Fetal Kidney	kidney
12	chr14:68211400-68218800	Weak transcription	Psoas Muscle	Psoas
13	chr14:68211600-68230800	Weak transcription	Stomach Mucosa	stomach
14	chr14:68212200-68216000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:68212400-68282800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:68212800-68222200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:68212800-68224000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:68212800-68224400	Strong transcription	Brain Hippocampus Middle	brain
19	chr14:68212800-68225400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:68212800-68225400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr14:68212800-68229800	Strong transcription	Fetal Intestine Large	intestine
22	chr14:68213000-68216200	Strong transcription	HSMM	muscle
23	chr14:68213000-68218800	Weak transcription	HUVEC	blood vessel
24	chr14:68213000-68225400	Strong transcription	Adipose Nuclei	Adipose
25	chr14:68213000-68225400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr14:68213000-68229800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr14:68213000-68233000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:68213000-68280800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:68213200-68216000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:68213200-68216400	Strong transcription	Fetal Brain Female	brain
32	chr14:68213200-68221800	Strong transcription	Brain Angular Gyrus	brain
33	chr14:68213200-68223400	Strong transcription	Primary B cells from cord blood	blood
34	chr14:68213200-68224400	Strong transcription	Primary T cells from cord blood	blood
35	chr14:68213200-68229800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:68213200-68243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:68213400-68216200	Weak transcription	Fetal Brain Male	brain
38	chr14:68213400-68216200	Strong transcription	Fetal Stomach	stomach
39	chr14:68213400-68222200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:68213400-68225400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:68213400-68281200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:68213600-68218000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:68213600-68222600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr14:68213600-68225200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:68213600-68229200	Strong transcription	Placenta	Placenta
46	chr14:68213600-68279600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:68213800-68222200	Strong transcription	Left Ventricle	heart
48	chr14:68213800-68222200	Strong transcription	Ovary	ovary
49	chr14:68213800-68223000	Strong transcription	Lung	lung
50	chr14:68213800-68225400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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