Variant report

Variant	rs12892482
Chromosome Location	chr14:39753135-39753136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39745363..39746931-chr14:39751770..39753782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10130008	0.80[ASN][1000 genomes]
rs10131617	0.88[ASN][1000 genomes]
rs10133417	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10134143	0.83[ASN][1000 genomes]
rs10134365	0.88[ASN][1000 genomes]
rs10137052	0.81[ASN][1000 genomes]
rs10137352	0.83[ASN][1000 genomes]
rs10138024	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151659	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10162550	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11157058	0.84[ASN][1000 genomes]
rs11620695	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11621264	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11621330	0.83[ASN][1000 genomes]
rs11621822	0.83[ASN][1000 genomes]
rs11624144	0.84[ASN][1000 genomes]
rs11624839	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626150	0.83[ASN][1000 genomes]
rs11626679	0.84[ASN][1000 genomes]
rs11627580	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11628075	0.81[ASN][1000 genomes]
rs11845046	0.85[ASN][1000 genomes]
rs12587713	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588386	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12588728	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589831	0.84[ASN][1000 genomes]
rs12882709	0.83[ASN][1000 genomes]
rs12883781	0.85[ASN][1000 genomes]
rs12896838	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1594842	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17109021	0.83[ASN][1000 genomes]
rs17109028	0.83[ASN][1000 genomes]
rs17109056	0.85[ASN][1000 genomes]
rs17109073	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17109100	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1897792	0.83[ASN][1000 genomes]
rs2274399	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28626340	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28680827	0.82[ASN][1000 genomes]
rs35065854	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35184650	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35201135	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35613410	0.83[ASN][1000 genomes]
rs7143646	0.83[ASN][1000 genomes]
rs7148150	0.83[ASN][1000 genomes]
rs7150735	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7151835	0.81[ASN][1000 genomes]
rs8004348	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8004716	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs956108	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671943	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9671953	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][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	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39737800-39763800	Weak transcription	Gastric	stomach
2	chr14:39738000-39763800	Weak transcription	HSMM	muscle
3	chr14:39738200-39759200	Weak transcription	NH-A	brain
4	chr14:39738200-39763800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:39738200-39763800	Weak transcription	HSMMtube	muscle
6	chr14:39738200-39766200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:39738600-39763800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:39738800-39764800	Weak transcription	NHDF-Ad	bronchial
10	chr14:39739200-39764000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:39739400-39758200	Weak transcription	NHEK	skin
12	chr14:39739800-39763400	Weak transcription	Lung	lung
13	chr14:39739800-39766400	Weak transcription	Aorta	Aorta
14	chr14:39741200-39764200	Weak transcription	Spleen	Spleen
15	chr14:39742000-39763400	Weak transcription	Esophagus	oesophagus
16	chr14:39742800-39755200	Weak transcription	Fetal Stomach	stomach
17	chr14:39743800-39755800	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
19	chr14:39745400-39760600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:39745400-39764000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:39745600-39764000	Weak transcription	HMEC	breast
22	chr14:39746200-39753400	Strong transcription	HepG2	liver
23	chr14:39746200-39755400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr14:39746200-39758000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:39746200-39776600	Weak transcription	K562	blood
26	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
27	chr14:39747000-39753800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:39747000-39755600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:39747200-39753600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:39747200-39754400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:39747200-39755800	Weak transcription	Brain Germinal Matrix	brain
32	chr14:39747200-39763800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:39747400-39753600	Strong transcription	Liver	Liver
34	chr14:39747400-39755400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:39747600-39753800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr14:39747600-39753800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:39747600-39754000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:39747800-39763600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:39748600-39753400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr14:39748600-39753800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:39748800-39753200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:39748800-39753400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:39748800-39753400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:39748800-39753400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:39748800-39753600	Strong transcription	Adipose Nuclei	Adipose
46	chr14:39749200-39754000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:39749400-39755200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:39749400-39755400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr14:39749400-39755800	Weak transcription	Dnd41	blood
50	chr14:39749400-39756400	Weak transcription	Thymus	Thymus

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