Variant report

Variant	rs56273152
Chromosome Location	chr14:69146824-69146825
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69140612..69143897-chr14:69144932..69147672,3	K562	blood:
2	chr14:69134172..69139010-chr14:69141375..69149578,10	MCF-7	breast:
3	chr14:69134535..69137346-chr14:69145752..69148446,2	MCF-7	breast:
4	chr14:69144914..69147677-chr14:69260674..69262821,3	MCF-7	breast:
5	chr14:69135401..69138054-chr14:69145098..69147718,2	K562	blood:
6	chr14:69141367..69143864-chr14:69145141..69147073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12431919	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436378	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1274761	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12887682	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895574	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12896428	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898061	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17756914	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34720143	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573854	0.83[AFR][1000 genomes]
rs7147855	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957258	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1329	chr14:69142476-69176987	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69136800-69150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:69137800-69148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:69138600-69147800	Weak transcription	Brain Anterior Caudate	brain
4	chr14:69138800-69147200	Weak transcription	Lung	lung
5	chr14:69139200-69150000	Weak transcription	Thymus	Thymus
6	chr14:69140000-69147200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:69140600-69147400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:69141400-69147000	Enhancers	Fetal Intestine Small	intestine
9	chr14:69141400-69153800	Enhancers	Fetal Intestine Large	intestine
10	chr14:69141400-69156800	Enhancers	Placenta	Placenta
11	chr14:69142000-69148000	Weak transcription	Spleen	Spleen
12	chr14:69142200-69147200	Weak transcription	NHLF	lung
13	chr14:69142200-69150000	Weak transcription	Aorta	Aorta
14	chr14:69142400-69147200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:69142400-69147200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:69142400-69147200	Weak transcription	Osteobl	bone
17	chr14:69142600-69147400	Weak transcription	HSMM	muscle
18	chr14:69143000-69148000	Weak transcription	HUVEC	blood vessel
19	chr14:69143400-69147400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:69143600-69147200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:69143800-69147200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:69144000-69148000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr14:69144000-69148200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:69144400-69147600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69144400-69148600	Enhancers	Pancreas	Pancrea
26	chr14:69144600-69148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:69144800-69152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69145000-69147000	ZNF genes & repeats	NHEK	skin
29	chr14:69145000-69147800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:69145000-69148000	Weak transcription	Right Ventricle	heart
31	chr14:69145200-69148600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:69145400-69147400	Weak transcription	Right Atrium	heart
33	chr14:69145400-69149400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr14:69145400-69152000	Weak transcription	Gastric	stomach
35	chr14:69145400-69152600	Enhancers	Fetal Kidney	kidney
36	chr14:69145600-69147200	Weak transcription	Esophagus	oesophagus
37	chr14:69145600-69147200	Weak transcription	Left Ventricle	heart
38	chr14:69145600-69147400	Weak transcription	Fetal Heart	heart
39	chr14:69145600-69148400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:69145600-69153200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr14:69145800-69147400	Weak transcription	Fetal Thymus	thymus
42	chr14:69145800-69147400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:69145800-69147600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:69146000-69147800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr14:69146000-69149000	Enhancers	Hela-S3	cervix
46	chr14:69146200-69147400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:69146200-69147400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr14:69146200-69149000	Enhancers	HSMMtube	muscle
49	chr14:69146200-69152600	Enhancers	Fetal Lung	lung
50	chr14:69146200-69153000	Enhancers	Fetal Muscle Leg	muscle

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