Variant report

Variant	rs12889276
Chromosome Location	chr14:68207622-68207623
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68204938..68207845-chr14:68208456..68210865,2	K562	blood:
2	chr14:68201799..68203508-chr14:68206427..68208228,2	K562	blood:

Variant related genes	Relation type
ENSG00000271697	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1007283	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12147055	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12147616	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12879877	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12880440	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881351	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12881994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12882315	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12882423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12882561	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12882897	0.80[ASN][1000 genomes]
rs12884644	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884764	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12884807	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12886140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887092	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12888119	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12889011	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12889527	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12890397	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12892919	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893115	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12893900	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12893907	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12894707	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12895014	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12895217	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12898042	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17249649	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273160	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34970739	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759762	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8007557	0.82[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:68196800-68214600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:68197200-68214800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:68201400-68213400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:68201400-68213600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:68201400-68214600	Weak transcription	Brain Substantia Nigra	brain
9	chr14:68201600-68213200	Weak transcription	Brain Angular Gyrus	brain
10	chr14:68201600-68214600	Weak transcription	Spleen	Spleen
11	chr14:68202200-68212800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:68202400-68212800	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:68202800-68214000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:68202800-68215000	Weak transcription	Right Ventricle	heart
15	chr14:68202800-68230800	Weak transcription	Right Atrium	heart
16	chr14:68203000-68210400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr14:68204000-68219600	Weak transcription	Small Intestine	intestine
18	chr14:68204400-68214800	Weak transcription	Gastric	stomach
19	chr14:68205800-68213600	Weak transcription	Placenta	Placenta
20	chr14:68206000-68210400	Weak transcription	Psoas Muscle	Psoas
21	chr14:68206000-68212800	Weak transcription	Fetal Intestine Large	intestine
22	chr14:68206000-68213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:68206000-68213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:68206000-68213800	Weak transcription	Liver	Liver
25	chr14:68206000-68214000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:68206000-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:68206000-68214800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:68206000-68214800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:68206000-68214800	Weak transcription	Brain Anterior Caudate	brain
30	chr14:68206000-68214800	Weak transcription	Esophagus	oesophagus
31	chr14:68206000-68214800	Weak transcription	HSMMtube	muscle
32	chr14:68206000-68215000	Weak transcription	Colonic Mucosa	Colon
33	chr14:68206000-68216200	Weak transcription	NH-A	brain
34	chr14:68206200-68210600	Weak transcription	Pancreas	Pancrea
35	chr14:68206200-68213000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:68206200-68251000	Weak transcription	K562	blood
37	chr14:68206400-68210400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:68206400-68213000	Weak transcription	HSMM	muscle
39	chr14:68206400-68214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:68206400-68214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:68206400-68214800	Weak transcription	HMEC	breast
42	chr14:68206400-68216800	Weak transcription	NHEK	skin
43	chr14:68206600-68213200	Weak transcription	Primary T cells from cord blood	blood
44	chr14:68206600-68214600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:68206600-68214600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr14:68206600-68214600	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:68206600-68214600	Weak transcription	Fetal Intestine Small	intestine
48	chr14:68206600-68214600	Weak transcription	NHLF	lung
49	chr14:68206600-68215800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr14:68206800-68213000	Weak transcription	Rectal Mucosa Donor 29	rectum

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