Variant report

Variant	rs55825428
Chromosome Location	chr5:114880063-114880064
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114764740..114766538-chr5:114878918..114880582,2	MCF-7	breast:
2	chr5:114879958..114880695-chr6:13574785..13575475,2	Hela-S3	cervix:
3	chr5:114840582..114843514-chr5:114878687..114880300,2	K562	blood:
4	chr5:114630617..114632812-chr5:114878306..114880297,2	K562	blood:
5	chr5:114878345..114880939-chr5:115175674..115177985,2	K562	blood:
6	chr17:46048149..46048819-chr5:114879946..114880664,2	NB4	blood:
7	chr5:114708411..114710984-chr5:114878847..114880354,2	MCF-7	breast:
8	chr5:114879757..114880408-chrX:49125163..49125906,2	Hela-S3	cervix:
9	chr19:47729493..47730094-chr5:114879883..114880419,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000177879	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000145782	Chromatin interaction
ENSG00000164221	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2032842	0.90[ASN][1000 genomes]
rs28450135	0.86[ASN][1000 genomes]
rs55797760	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56212105	0.90[ASN][1000 genomes]
rs6891416	0.87[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114874200-114881200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
3	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:114876200-114880400	Active TSS	Fetal Intestine Large	intestine
5	chr5:114876200-114881000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:114876200-114881000	Active TSS	HMEC	breast
7	chr5:114876400-114880400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:114876600-114880800	Active TSS	Fetal Intestine Small	intestine
9	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
10	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
11	chr5:114877400-114880600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:114877400-114881000	Active TSS	Colon Smooth Muscle	Colon
13	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:114877600-114881200	Active TSS	HSMM	muscle
15	chr5:114878000-114881000	Active TSS	Stomach Mucosa	stomach
16	chr5:114878600-114880600	Active TSS	Esophagus	oesophagus
17	chr5:114878600-114881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:114878600-114881000	Active TSS	Pancreas	Pancrea
19	chr5:114878800-114881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:114878800-114881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:114879000-114880400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:114879000-114880400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:114879000-114880400	Active TSS	Lung	lung
24	chr5:114879000-114880400	Active TSS	NH-A	brain
25	chr5:114879000-114880600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:114879000-114880600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:114879000-114880600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:114879000-114880600	Active TSS	Duodenum Mucosa	Duodenum
29	chr5:114879000-114880800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:114879000-114880800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:114879000-114880800	Active TSS	Fetal Kidney	kidney
32	chr5:114879000-114881000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:114879000-114881000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr5:114879000-114881000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:114879000-114881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr5:114879000-114881000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr5:114879000-114881000	Active TSS	Psoas Muscle	Psoas
38	chr5:114879000-114881200	Active TSS	A549	lung
39	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
40	chr5:114879200-114880400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:114879200-114880400	Active TSS	Fetal Lung	lung
42	chr5:114879200-114880400	Active TSS	Gastric	stomach
43	chr5:114879200-114880400	Active TSS	GM12878-XiMat	blood
44	chr5:114879200-114880600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:114879200-114880600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:114879200-114880600	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:114879200-114880600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:114879200-114880600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr5:114879200-114880800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:114879200-114880800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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