Variant report

Variant	rs73794107
Chromosome Location	chr5:118621929-118621930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118620088..118622427-chr5:118650333..118654456,3	K562	blood:
2	chr5:118609964..118611606-chr5:118621803..118623586,2	MCF-7	breast:
3	chr5:118607071..118610754-chr5:118620607..118623123,4	K562	blood:
4	chr5:118620088..118622247-chr5:118651505..118654456,2	K562	blood:
5	chr5:118617115..118620555-chr5:118621915..118624851,4	MCF-7	breast:
6	chr5:118602857..118608494-chr5:118621291..118626100,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10519575	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519576	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10519581	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17145135	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56319623	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58131651	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60599743	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67186626	0.97[EUR][1000 genomes]
rs6879962	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6892643	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6892980	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72786107	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786113	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786116	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786118	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786122	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72786125	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73248971	0.98[EUR][1000 genomes]
rs73794110	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7701688	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118610600-118622600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:118610800-118626000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:118611200-118623200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:118611200-118625200	Weak transcription	Right Atrium	heart
5	chr5:118611400-118622600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:118611800-118623200	Weak transcription	HUVEC	blood vessel
7	chr5:118612000-118622400	Weak transcription	Lung	lung
8	chr5:118612000-118625200	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:118613200-118623400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:118613800-118626000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:118614000-118623400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:118614400-118623200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:118615000-118622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:118615000-118626200	Weak transcription	Spleen	Spleen
15	chr5:118615200-118622400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:118616800-118624600	Enhancers	Fetal Heart	heart
17	chr5:118617600-118622400	Enhancers	GM12878-XiMat	blood
18	chr5:118617600-118622600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:118618000-118622000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:118618000-118622600	Weak transcription	Fetal Lung	lung
21	chr5:118618400-118622400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr5:118618400-118627800	Weak transcription	Right Ventricle	heart
23	chr5:118618600-118622200	Weak transcription	Left Ventricle	heart
24	chr5:118618600-118622600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:118618800-118622400	Weak transcription	Pancreas	Pancrea
26	chr5:118618800-118622600	Weak transcription	HMEC	breast
27	chr5:118618800-118623800	Weak transcription	Fetal Kidney	kidney
28	chr5:118619200-118623200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:118619400-118622600	Enhancers	Primary B cells from cord blood	blood
30	chr5:118619400-118622600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:118619400-118622600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:118619400-118622600	Weak transcription	Fetal Stomach	stomach
33	chr5:118619400-118628600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr5:118619600-118622600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:118619800-118622400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr5:118619800-118629600	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:118620000-118622400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:118620000-118622600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:118620000-118622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:118620000-118625200	Weak transcription	Gastric	stomach
41	chr5:118620000-118629400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:118620400-118622000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:118620400-118622400	Enhancers	A549	lung
44	chr5:118620400-118623200	Enhancers	Primary hematopoietic stem cells	blood
45	chr5:118620600-118623600	Weak transcription	Aorta	Aorta
46	chr5:118620800-118622000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:118620800-118622400	Enhancers	Hela-S3	cervix
48	chr5:118620800-118623200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:118620800-118623600	Enhancers	Adipose Nuclei	Adipose
50	chr5:118620800-118624800	Enhancers	Osteobl	bone

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