Variant report

Variant	rs13180238
Chromosome Location	chr5:118656630-118656631
allele	G/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	chr5:118655474..118659015-chr5:118750147..118754859,4	K562	blood:
2	chr5:118653729..118656280-chr5:118656437..118659338,2	MCF-7	breast:
3	chr5:118656628..118658967-chr5:118738022..118740798,2	K562	blood:
4	chr5:118655262..118657300-chr5:118715734..118717406,2	K562	blood:
5	chr5:118646030..118648702-chr5:118654405..118658630,4	K562	blood:
6	chr5:118656369..118659015-chr5:118750147..118752975,4	K562	blood:
7	chr5:118651481..118653005-chr5:118654205..118657121,2	MCF-7	breast:
8	chr5:118656086..118659257-chr5:118722811..118726060,3	K562	blood:

No data

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10519579	0.84[EUR][1000 genomes]
rs13153732	0.84[EUR][1000 genomes]
rs13171443	0.84[EUR][1000 genomes]
rs13172873	0.84[EUR][1000 genomes]
rs13172935	0.84[EUR][1000 genomes]
rs13189229	0.84[EUR][1000 genomes]
rs1394630	0.84[EUR][1000 genomes]
rs1465396	0.84[EUR][1000 genomes]
rs17145124	0.84[EUR][1000 genomes]
rs17145129	0.84[EUR][1000 genomes]
rs17145142	0.84[EUR][1000 genomes]
rs2012594	0.84[EUR][1000 genomes]
rs34016408	0.89[EUR][1000 genomes]
rs34207529	0.84[EUR][1000 genomes]
rs34692285	0.84[EUR][1000 genomes]
rs34902535	0.84[EUR][1000 genomes]
rs35067404	0.84[EUR][1000 genomes]
rs35109842	1.00[AFR][1000 genomes]
rs35113297	0.84[EUR][1000 genomes]
rs35263427	0.94[EUR][1000 genomes]
rs35605034	0.84[EUR][1000 genomes]
rs35834554	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35956442	0.84[EUR][1000 genomes]
rs35981322	0.84[EUR][1000 genomes]
rs58196366	0.84[EUR][1000 genomes]
rs60474651	0.84[EUR][1000 genomes]
rs61179451	0.84[EUR][1000 genomes]
rs61643326	0.84[EUR][1000 genomes]
rs67136651	0.84[EUR][1000 genomes]
rs6874081	0.84[EUR][1000 genomes]
rs6897744	0.84[EUR][1000 genomes]
rs71585210	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71585211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73252330	0.84[EUR][1000 genomes]
rs999275	0.84[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:78 , 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	chr5:118646600-118658800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:118648000-118664600	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:118649600-118657800	Genic enhancers	Dnd41	blood
15	chr5:118650000-118664000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:118650200-118657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:118650200-118657600	Weak transcription	Aorta	Aorta
18	chr5:118651400-118657600	Weak transcription	Fetal Lung	lung
19	chr5:118651400-118662000	Weak transcription	Fetal Stomach	stomach
20	chr5:118651600-118657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:118651600-118657200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:118651600-118657200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:118651800-118657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:118651800-118657000	Weak transcription	Adipose Nuclei	Adipose
25	chr5:118651800-118657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:118651800-118658400	Weak transcription	NHLF	lung
27	chr5:118651800-118660400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr5:118652000-118657200	Weak transcription	Osteobl	bone
29	chr5:118652000-118658200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:118652000-118658600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:118652400-118659800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr5:118652800-118661800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:118653600-118659400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:118653600-118660000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:118653800-118663000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:118654200-118657400	Genic enhancers	Fetal Thymus	thymus
38	chr5:118654400-118657000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:118654400-118657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:118654400-118657200	Weak transcription	HMEC	breast
41	chr5:118654400-118658000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:118654400-118663400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:118654600-118658600	Weak transcription	HepG2	liver
44	chr5:118654600-118661800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr5:118654800-118658800	Genic enhancers	Primary B cells from cord blood	blood
46	chr5:118655000-118657200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:118655000-118664600	Enhancers	Thymus	Thymus
48	chr5:118655200-118657000	Weak transcription	A549	lung
49	chr5:118655200-118658200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:118655600-118662600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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