Variant report

Variant	rs8020501
Chromosome Location	chr14:65034599-65034600
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65005508..65008308-chr14:65032018..65035005,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259116	Chromatin interaction
ENSG00000126803	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10220523	0.90[AFR][1000 genomes]
rs10438021	0.96[AFR][1000 genomes]
rs12323549	0.83[AFR][1000 genomes]
rs28692729	0.88[AFR][1000 genomes]
rs7151871	0.84[AFR][1000 genomes]
rs7157936	1.00[AFR][1000 genomes]
rs9285591	0.88[AFR][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	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65021600-65047600	Weak transcription	Pancreas	Pancrea
2	chr14:65028200-65039400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr14:65029200-65035800	Weak transcription	Placenta	Placenta
4	chr14:65029400-65035600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:65029400-65039400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:65030600-65039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:65030800-65034600	Enhancers	Brain Hippocampus Middle	brain
8	chr14:65031000-65035800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:65031000-65035800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:65031000-65039000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:65033200-65034600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:65033200-65036400	Enhancers	Colon Smooth Muscle	Colon
13	chr14:65033200-65037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:65033400-65040000	Weak transcription	Gastric	stomach
15	chr14:65033600-65035800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr14:65033600-65036800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:65033600-65039200	Weak transcription	Aorta	Aorta
18	chr14:65033600-65039400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:65033800-65035000	Weak transcription	Hela-S3	cervix
20	chr14:65033800-65035200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:65033800-65035200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:65033800-65035200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:65033800-65035400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:65033800-65035600	Weak transcription	Adipose Nuclei	Adipose
25	chr14:65033800-65035800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:65033800-65035800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:65033800-65035800	Weak transcription	Brain Germinal Matrix	brain
28	chr14:65033800-65036400	Enhancers	HUVEC	blood vessel
29	chr14:65033800-65036600	Weak transcription	Psoas Muscle	Psoas
30	chr14:65033800-65039400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:65033800-65039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:65033800-65039400	Weak transcription	Brain Angular Gyrus	brain
33	chr14:65033800-65040000	Weak transcription	Esophagus	oesophagus
34	chr14:65034000-65035000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:65034000-65035000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:65034000-65035200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:65034000-65035200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:65034000-65035200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:65034000-65035400	Weak transcription	Fetal Kidney	kidney
40	chr14:65034000-65035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:65034000-65035600	Weak transcription	Fetal Lung	lung
42	chr14:65034000-65035800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:65034000-65039000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:65034200-65034600	Weak transcription	Fetal Muscle Leg	muscle
45	chr14:65034200-65035200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:65034200-65035200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:65034200-65035200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:65034200-65035200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr14:65034200-65035200	Weak transcription	NHDF-Ad	bronchial
50	chr14:65034200-65035400	Weak transcription	Brain Cingulate Gyrus	brain

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