Variant report

Variant	rs62346563
Chromosome Location	chr5:14218724-14218725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14216973..14219606-chr5:14236627..14239606,2	MCF-7	breast:
2	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
3	chr5:14218014..14220716-chr5:14221301..14224995,3	MCF-7	breast:
4	chr5:14217173..14219209-chr5:14242160..14244276,2	MCF-7	breast:
5	chr5:14142853..14145531-chr5:14217598..14220636,3	MCF-7	breast:
6	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:
7	chr5:14217255..14219345-chr5:14264896..14267843,2	MCF-7	breast:
8	chr5:14216252..14219175-chr5:14227535..14229395,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62344615	1.00[AMR][1000 genomes]
rs62344980	1.00[AMR][1000 genomes]
rs62346589	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
3	chr5:14212400-14219000	Genic enhancers	HSMM	muscle
4	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:14214400-14218800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:14214800-14220800	Enhancers	HepG2	liver
7	chr5:14215000-14222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:14215200-14219600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:14215200-14221000	Enhancers	NHDF-Ad	bronchial
10	chr5:14215200-14222800	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr5:14215400-14220400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:14215400-14221600	Enhancers	GM12878-XiMat	blood
13	chr5:14215600-14223400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:14216000-14218800	Enhancers	A549	lung
15	chr5:14216000-14218800	Enhancers	Osteobl	bone
16	chr5:14216000-14219200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:14216000-14219800	Enhancers	HMEC	breast
18	chr5:14216000-14220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:14216000-14220600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:14216000-14221600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:14216000-14221600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:14216000-14222000	Enhancers	Primary B cells from peripheral blood	blood
23	chr5:14216000-14223800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:14216000-14225800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:14216200-14218800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:14216200-14218800	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:14216200-14219600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:14216200-14220600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:14216200-14221000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:14216200-14221400	Enhancers	Small Intestine	intestine
31	chr5:14216200-14221600	Enhancers	Fetal Heart	heart
32	chr5:14216200-14221800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr5:14216200-14221800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:14216400-14221600	Enhancers	HSMMtube	muscle
35	chr5:14216400-14222600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:14216600-14218800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:14216600-14219800	Enhancers	Fetal Stomach	stomach
38	chr5:14216600-14222000	Enhancers	Left Ventricle	heart
39	chr5:14216800-14219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:14216800-14219800	Enhancers	Placenta	Placenta
41	chr5:14216800-14220000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:14216800-14221200	Enhancers	Fetal Muscle Leg	muscle
43	chr5:14216800-14221400	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:14216800-14221800	Enhancers	Fetal Intestine Small	intestine
45	chr5:14216800-14222000	Enhancers	Adipose Nuclei	Adipose
46	chr5:14216800-14222000	Enhancers	Fetal Intestine Large	intestine
47	chr5:14216800-14227200	Weak transcription	Hela-S3	cervix
48	chr5:14217000-14218800	Weak transcription	Fetal Lung	lung
49	chr5:14217000-14219200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:14217000-14219200	Enhancers	Fetal Muscle Trunk	muscle

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