Variant report

Variant	rs73084815
Chromosome Location	chr5:42858548-42858549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55730625	1.00[AMR][1000 genomes]
rs60192164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60384612	1.00[AMR][1000 genomes]
rs61328340	1.00[AMR][1000 genomes]
rs6879509	1.00[AMR][1000 genomes]
rs6891660	1.00[AMR][1000 genomes]
rs6892685	1.00[AMR][1000 genomes]
rs73084819	0.90[AFR][1000 genomes]
rs73088862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73754524	1.00[AMR][1000 genomes]
rs73754532	1.00[AMR][1000 genomes]
rs7703982	1.00[AMR][1000 genomes]
rs7710205	1.00[AMR][1000 genomes]
rs7718462	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
4	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
5	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
6	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
9	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
10	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
11	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42855000-42859200	Enhancers	HSMM	muscle
2	chr5:42855200-42859600	Enhancers	Fetal Intestine Large	intestine
3	chr5:42855800-42858800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr5:42857400-42859200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:42857600-42858600	Enhancers	Fetal Intestine Small	intestine
6	chr5:42857600-42858800	Weak transcription	Left Ventricle	heart
7	chr5:42857600-42859200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:42858000-42859200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:42858000-42859400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:42858200-42858600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:42858200-42858600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:42858200-42858600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:42858200-42858600	Enhancers	Brain Germinal Matrix	brain
14	chr5:42858200-42858600	Enhancers	Pancreas	Pancrea
15	chr5:42858200-42858600	Enhancers	NHEK	skin
16	chr5:42858200-42858800	Enhancers	Fetal Heart	heart
17	chr5:42858200-42858800	Enhancers	Rectal Smooth Muscle	rectum
18	chr5:42858200-42858800	Enhancers	Osteobl	bone
19	chr5:42858200-42859000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:42858200-42859000	Enhancers	Aorta	Aorta
21	chr5:42858200-42859000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:42858200-42859200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:42858200-42859200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:42858200-42859200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:42858200-42859200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:42858200-42859200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:42858200-42859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:42858200-42859200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:42858200-42859200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:42858200-42859200	Enhancers	HMEC	breast
31	chr5:42858200-42859200	Enhancers	HSMMtube	muscle
32	chr5:42858200-42859400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:42858400-42858600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:42858400-42858600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr5:42858400-42858600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:42858400-42858600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr5:42858400-42858600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:42858400-42858600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr5:42858400-42858600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr5:42858400-42858800	Enhancers	Liver	Liver
41	chr5:42858400-42858800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr5:42858400-42858800	Enhancers	Ovary	ovary
43	chr5:42858400-42858800	Enhancers	K562	blood
44	chr5:42858400-42859000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:42858400-42859000	Enhancers	Adipose Nuclei	Adipose
46	chr5:42858400-42859000	Enhancers	Colon Smooth Muscle	Colon
47	chr5:42858400-42859000	Enhancers	Fetal Muscle Leg	muscle
48	chr5:42858400-42859000	Enhancers	Fetal Stomach	stomach
49	chr5:42858400-42859000	Enhancers	NHDF-Ad	bronchial
50	chr5:42858400-42859200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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