Variant report

Variant	rs73417345
Chromosome Location	chr15:55914084-55914085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16976437	1.00[AMR][1000 genomes]
rs55974808	1.00[AMR][1000 genomes]
rs58886852	1.00[AMR][1000 genomes]
rs60604532	1.00[AMR][1000 genomes]
rs61254561	1.00[AMR][1000 genomes]
rs61729647	1.00[AMR][1000 genomes]
rs7170878	1.00[AMR][1000 genomes]
rs73417334	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037279	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv948522	chr15:55639867-56032099	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv1041635	chr15:55658171-55943942	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv457157	chr15:55722213-56255774	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv569539	chr15:55722213-56255774	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1049774	chr15:55759573-56044600	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv569540	chr15:55866065-55950082	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55881800-55920000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:55902200-55942200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:55904200-55927000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:55904600-55929400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr15:55905200-55920200	Weak transcription	HepG2	liver
6	chr15:55906400-55920000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:55906600-55916200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:55906800-55922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:55907000-55919800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:55907200-55919400	Weak transcription	Placenta	Placenta
11	chr15:55908600-55945000	Weak transcription	Left Ventricle	heart
12	chr15:55908800-55916000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:55908800-55919800	Weak transcription	HUVEC	blood vessel
14	chr15:55908800-55938800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:55909800-55920800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:55910000-55920200	Weak transcription	Psoas Muscle	Psoas
17	chr15:55910200-55928600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:55910400-55930800	Weak transcription	Fetal Lung	lung
19	chr15:55910600-55922800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:55910800-55927000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:55911000-55914400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:55911000-55916400	Weak transcription	Fetal Kidney	kidney
23	chr15:55911000-55921400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:55911000-55931000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:55911800-55977000	Weak transcription	Fetal Intestine Small	intestine
26	chr15:55912200-55920600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:55912200-55929800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:55912400-55919800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:55912400-55944000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr15:55912600-55916400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:55912600-55916400	Weak transcription	Ovary	ovary
32	chr15:55912600-55919400	Weak transcription	A549	lung
33	chr15:55912600-55920000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr15:55912600-55920000	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:55912600-55920200	Weak transcription	Lung	lung
36	chr15:55912800-55916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:55913400-55915400	Weak transcription	Fetal Stomach	stomach

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