Variant report

Variant	rs72786132
Chromosome Location	chr5:118654711-118654712
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:118647069..118648702-chr5:118653056..118655905,2	K562	blood:
2	chr5:118603702..118606149-chr5:118653729..118656004,2	MCF-7	breast:
3	chr5:118609309..118611605-chr5:118653973..118656263,2	K562	blood:
4	chr5:118416875..118419760-chr5:118654118..118656007,2	K562	blood:
5	chr5:118653698..118656390-chr5:118740909..118743289,2	K562	blood:
6	chr5:118654543..118656491-chr5:118674624..118677344,2	K562	blood:
7	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
8	chr5:118650777..118652964-chr5:118653732..118655303,2	K562	blood:
9	chr5:118653729..118656280-chr5:118656437..118659338,2	MCF-7	breast:
10	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs62375111	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62375113	0.81[EUR][1000 genomes]
rs7718395	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs986649	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757136	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	esv2759374	chr5:118555863-118667748	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1024648	chr5:118608175-118678268	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv869828	chr5:118610548-118691190	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118639200-118657200	Weak transcription	Lung	lung
2	chr5:118639200-118658400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr5:118639600-118657000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:118640400-118658800	Weak transcription	Fetal Intestine Small	intestine
5	chr5:118640400-118659200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:118641800-118657200	Weak transcription	Pancreas	Pancrea
7	chr5:118644400-118658000	Weak transcription	Small Intestine	intestine
8	chr5:118645200-118664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:118645800-118661800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr5:118646000-118657200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:118646400-118657200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:118646600-118656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
15	chr5:118649200-118656200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
17	chr5:118650000-118655800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:118650200-118655600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
22	chr5:118650400-118655000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:118651400-118654800	Enhancers	Primary B cells from cord blood	blood
24	chr5:118651400-118657600	Weak transcription	Fetal Lung	lung
25	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
26	chr5:118651600-118657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:118651600-118657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:118651600-118657200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:118651800-118657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:118651800-118657000	Weak transcription	Adipose Nuclei	Adipose
31	chr5:118651800-118657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:118651800-118658400	Weak transcription	NHLF	lung
33	chr5:118651800-118660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:118652000-118655200	Enhancers	Primary T cells from cord blood	blood
35	chr5:118652000-118656000	Weak transcription	Hela-S3	cervix
36	chr5:118652000-118657200	Weak transcription	Osteobl	bone
37	chr5:118652000-118658200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:118652000-118658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr5:118652200-118656400	Weak transcription	Placenta	Placenta
40	chr5:118652400-118659800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:118652600-118655600	Weak transcription	Esophagus	oesophagus
42	chr5:118652600-118656400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr5:118652800-118654800	Enhancers	GM12878-XiMat	blood
44	chr5:118652800-118661800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:118653000-118655600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:118653000-118655800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr5:118653400-118655000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:118653600-118656000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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