Variant report

Variant	rs73280667
Chromosome Location	chr14:64072996-64072997
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	chr14:64072301..64074210-chr14:64193783..64195791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126821	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10083359	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10083535	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10131964	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132382	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10133598	0.83[EUR][1000 genomes]
rs10133932	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137182	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137805	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10137908	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10137933	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10142782	0.90[EUR][1000 genomes]
rs10144435	0.83[EUR][1000 genomes]
rs10144827	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10148637	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10148797	0.83[EUR][1000 genomes]
rs10149710	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149737	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10149828	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10150009	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10498509	0.83[EUR][1000 genomes]
rs12323694	0.83[EUR][1000 genomes]
rs1255792	0.96[ASN][1000 genomes]
rs1262228	0.96[ASN][1000 genomes]
rs17101315	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17101326	0.83[EUR][1000 genomes]
rs17101328	0.83[EUR][1000 genomes]
rs2236339	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28373566	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28575623	0.83[ASN][1000 genomes]
rs28590010	0.83[EUR][1000 genomes]
rs28633552	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28707240	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28733391	0.83[EUR][1000 genomes]
rs28778590	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28796021	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28821865	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4420451	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55659518	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58485817	0.83[ASN][1000 genomes]
rs60269901	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60327717	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61984037	0.96[ASN][1000 genomes]
rs61984047	0.83[ASN][1000 genomes]
rs6573525	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7142943	1.00[ASN][1000 genomes]
rs7145740	0.96[ASN][1000 genomes]
rs7148824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156289	1.00[ASN][1000 genomes]
rs7156393	1.00[ASN][1000 genomes]
rs73263604	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73263616	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73263627	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73280637	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280645	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73280672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7359072	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7359073	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74056152	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056153	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74056154	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8007512	1.00[ASN][1000 genomes]
rs8009516	0.83[ASN][1000 genomes]
rs8012130	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012691	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8022456	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv528691	chr14:64068806-64098555	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64061200-64081200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:64062000-64108000	Weak transcription	Spleen	Spleen
3	chr14:64062200-64077800	Weak transcription	Esophagus	oesophagus
4	chr14:64062200-64082400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:64062200-64107600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:64062600-64107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:64062800-64105400	Weak transcription	Hela-S3	cervix
8	chr14:64063200-64092800	Weak transcription	Aorta	Aorta
9	chr14:64063400-64098600	Weak transcription	Small Intestine	intestine
10	chr14:64064800-64081000	Weak transcription	NHLF	lung
11	chr14:64065800-64081000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:64066000-64081200	Weak transcription	NHDF-Ad	bronchial
13	chr14:64066000-64081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:64066200-64076800	Weak transcription	Placenta	Placenta
15	chr14:64066200-64080400	Weak transcription	HUVEC	blood vessel
16	chr14:64066200-64080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:64066200-64081400	Weak transcription	Brain Anterior Caudate	brain
18	chr14:64066200-64081600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:64066200-64081600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:64066200-64082000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:64066200-64083800	Weak transcription	Lung	lung
22	chr14:64066200-64084200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:64066200-64086400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:64066200-64097400	Weak transcription	Gastric	stomach
25	chr14:64066200-64099400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:64066200-64107600	Weak transcription	Pancreas	Pancrea
27	chr14:64066400-64073600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:64066400-64077000	Weak transcription	NH-A	brain
29	chr14:64066400-64079400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:64066400-64079600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:64066400-64081200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:64066400-64081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:64066400-64083200	Weak transcription	Fetal Lung	lung
34	chr14:64066400-64099400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:64066600-64077400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:64066600-64077600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:64066600-64079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:64066600-64081000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:64066600-64081000	Weak transcription	HSMM	muscle
40	chr14:64066600-64081200	Weak transcription	Osteobl	bone
41	chr14:64066600-64081800	Weak transcription	A549	lung
42	chr14:64066600-64084000	Weak transcription	Thymus	Thymus
43	chr14:64066600-64087800	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:64066600-64088600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:64066600-64088800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:64066600-64092800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:64066600-64093600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:64066600-64096200	Weak transcription	K562	blood
49	chr14:64066600-64099400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr14:64066600-64107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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