Variant report

Variant	rs13356084
Chromosome Location	chr5:114879967-114879968
allele	C/G
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
ENSG00000145782	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000177879	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10038493	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10041776	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10053572	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10073505	0.82[ASN][1000 genomes]
rs1015812	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13177180	0.84[ASN][1000 genomes]
rs13184723	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13357862	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2546484	0.94[ASN][1000 genomes]
rs256938	0.94[ASN][1000 genomes]
rs256977	0.93[ASN][1000 genomes]
rs256989	0.87[ASN][1000 genomes]
rs256995	0.85[ASN][1000 genomes]
rs372702	0.94[ASN][1000 genomes]
rs6860557	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6878790	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6892071	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893854	0.94[ASN][1000 genomes]
rs6894123	0.94[ASN][1000 genomes]
rs746566	0.81[ASN][1000 genomes]
rs766454	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9326964	0.81[EUR][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	chr5:114875600-114880000	Active TSS	Right Atrium	heart
3	chr5:114875600-114881000	Active TSS	Fetal Brain Female	brain
4	chr5:114875600-114881200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:114876200-114880400	Active TSS	Fetal Intestine Large	intestine
6	chr5:114876200-114881000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:114876200-114881000	Active TSS	HMEC	breast
8	chr5:114876400-114880400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:114876600-114880800	Active TSS	Fetal Intestine Small	intestine
10	chr5:114876600-114881200	Active TSS	HSMMtube	muscle
11	chr5:114877200-114881200	Active TSS	Colonic Mucosa	Colon
12	chr5:114877400-114880600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr5:114877400-114881000	Active TSS	Colon Smooth Muscle	Colon
14	chr5:114877400-114881400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:114877600-114881200	Active TSS	HSMM	muscle
16	chr5:114878000-114881000	Active TSS	Stomach Mucosa	stomach
17	chr5:114878200-114880000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:114878600-114880600	Active TSS	Esophagus	oesophagus
19	chr5:114878600-114881000	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:114878600-114881000	Active TSS	Pancreas	Pancrea
21	chr5:114878800-114880000	ZNF genes & repeats	Fetal Brain Male	brain
22	chr5:114878800-114881000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:114878800-114881000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:114879000-114880000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr5:114879000-114880000	Bivalent/Poised TSS	HepG2	liver
26	chr5:114879000-114880400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:114879000-114880400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:114879000-114880400	Active TSS	Lung	lung
29	chr5:114879000-114880400	Active TSS	NH-A	brain
30	chr5:114879000-114880600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:114879000-114880600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr5:114879000-114880600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr5:114879000-114880600	Active TSS	Duodenum Mucosa	Duodenum
34	chr5:114879000-114880800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr5:114879000-114880800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:114879000-114880800	Active TSS	Fetal Kidney	kidney
37	chr5:114879000-114881000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:114879000-114881000	Active TSS	H9 Cell Line	embryonic stem cell
39	chr5:114879000-114881000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:114879000-114881000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr5:114879000-114881000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr5:114879000-114881000	Active TSS	Psoas Muscle	Psoas
43	chr5:114879000-114881200	Active TSS	A549	lung
44	chr5:114879000-114881400	Active TSS	Fetal Heart	heart
45	chr5:114879200-114880000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:114879200-114880400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:114879200-114880400	Active TSS	Fetal Lung	lung
48	chr5:114879200-114880400	Active TSS	Gastric	stomach
49	chr5:114879200-114880400	Active TSS	GM12878-XiMat	blood
50	chr5:114879200-114880600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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