Variant report

Variant	rs12896963
Chromosome Location	chr14:39553442-39553443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39552215..39554960-chr14:39566329..39568969,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1028591	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1040836	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12882909	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883114	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883946	0.86[ASN][1000 genomes]
rs12887605	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12891260	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891438	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895569	0.84[ASN][1000 genomes]
rs12896384	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897263	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897593	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17607605	0.86[ASN][1000 genomes]
rs17616347	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617123	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17617289	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17670531	0.86[ASN][1000 genomes]
rs17676972	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17679493	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1884383	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884386	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1950508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960796	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2038359	0.81[EUR][1000 genomes]
rs2038360	0.81[EUR][1000 genomes]
rs2144526	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2144527	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2273315	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2415533	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28364834	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34292075	0.86[ASN][1000 genomes]
rs34328534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34870044	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34896803	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34984050	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35006421	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35270180	0.81[EUR][1000 genomes]
rs35395604	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35412542	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35502984	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35534904	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35729735	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35767652	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35873738	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35976812	0.80[EUR][1000 genomes]
rs4555056	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55902358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55993688	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57550673	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59881143	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61338087	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6571887	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67190795	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67968129	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7140282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71407778	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143056	0.86[ASN][1000 genomes]
rs7143370	0.85[ASN][1000 genomes]
rs7144730	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145712	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151407	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7152392	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154223	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7157774	0.81[EUR][1000 genomes]
rs743222	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007028	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007240	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011244	0.81[EUR][1000 genomes]
rs8011494	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8017648	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8020013	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8020321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743466	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9743749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526000-39557200	Strong transcription	Osteobl	bone
3	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:39526800-39553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:39526800-39554000	Weak transcription	Aorta	Aorta
6	chr14:39526800-39554000	Weak transcription	Esophagus	oesophagus
7	chr14:39526800-39554200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:39526800-39554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:39527000-39554200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:39527600-39554200	Weak transcription	K562	blood
13	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
14	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:39529200-39559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:39529800-39554200	Weak transcription	Fetal Brain Male	brain
20	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
21	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
22	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr14:39534600-39554000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:39534800-39553600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:39535400-39553600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:39536000-39554200	Weak transcription	Pancreas	Pancrea
29	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
31	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:39538800-39556600	Strong transcription	Adipose Nuclei	Adipose
33	chr14:39538800-39561000	Strong transcription	Fetal Muscle Leg	muscle
34	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr14:39539400-39554000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:39540400-39559800	Strong transcription	HepG2	liver
38	chr14:39540600-39553600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:39540800-39559600	Strong transcription	Liver	Liver
40	chr14:39541800-39553800	Weak transcription	Brain Angular Gyrus	brain
41	chr14:39541800-39554400	Weak transcription	Psoas Muscle	Psoas
42	chr14:39542200-39553600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr14:39542200-39554200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr14:39542200-39554200	Weak transcription	Spleen	Spleen
45	chr14:39542600-39553600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:39542600-39553600	Weak transcription	NHEK	skin
47	chr14:39543200-39556600	Strong transcription	HSMM	muscle
48	chr14:39543400-39554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:39543600-39553600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:39543600-39554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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