Variant report

Variant	rs73248903
Chromosome Location	chr5:118613316-118613317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118613152..118615517-chr5:118623481..118626512,3	K562	blood:
2	chr5:118612244..118613864-chr5:118618736..118620267,2	K562	blood:
3	chr5:118608976..118610924-chr5:118611677..118614911,3	K562	blood:
4	chr5:118605299..118606814-chr5:118613006..118614761,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13167735	0.85[AFR][1000 genomes]
rs13187496	0.85[AFR][1000 genomes]
rs17145063	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17145066	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73247096	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs73247101	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118605400-118621000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:118605600-118618200	Weak transcription	Fetal Stomach	stomach
3	chr5:118606200-118617600	Weak transcription	Fetal Lung	lung
4	chr5:118606800-118614600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:118609400-118615200	Enhancers	Primary B cells from peripheral blood	blood
6	chr5:118609600-118613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:118609600-118613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:118610400-118613400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:118610400-118613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:118610400-118613800	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:118610400-118614800	Weak transcription	Gastric	stomach
12	chr5:118610400-118618200	Weak transcription	Left Ventricle	heart
13	chr5:118610400-118619600	Genic enhancers	Dnd41	blood
14	chr5:118610600-118614200	Weak transcription	Spleen	Spleen
15	chr5:118610600-118615800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:118610600-118619800	Weak transcription	Aorta	Aorta
17	chr5:118610600-118622600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:118611000-118614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:118611200-118613400	Weak transcription	K562	blood
21	chr5:118611200-118614200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:118611200-118614200	Weak transcription	Esophagus	oesophagus
23	chr5:118611200-118620400	Weak transcription	A549	lung
24	chr5:118611200-118621000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:118611200-118623200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:118611200-118625200	Weak transcription	Right Atrium	heart
27	chr5:118611400-118613400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:118611400-118613600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:118611400-118613600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:118611400-118617000	Enhancers	Thymus	Thymus
31	chr5:118611400-118620400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:118611400-118621000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:118611400-118622600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:118611600-118621000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr5:118611800-118613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:118611800-118613400	Weak transcription	NHEK	skin
37	chr5:118611800-118613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:118611800-118613600	Weak transcription	Hela-S3	cervix
39	chr5:118611800-118613800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr5:118611800-118614400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr5:118611800-118616400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:118611800-118617800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:118611800-118618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:118611800-118623200	Weak transcription	HUVEC	blood vessel
45	chr5:118612000-118613400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:118612000-118614000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:118612000-118618000	Weak transcription	Pancreas	Pancrea
48	chr5:118612000-118619600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr5:118612000-118622400	Weak transcription	Lung	lung
50	chr5:118612000-118625200	Weak transcription	Fetal Muscle Leg	muscle

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