Variant report

Variant	rs73421317
Chromosome Location	chr15:45316160-45316161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11636774	1.00[ASN][1000 genomes]
rs59080678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61425884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419376	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73419390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73419395	1.00[AFR][1000 genomes]
rs73421315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45314600-45316200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr15:45314600-45316200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr15:45314600-45316200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr15:45314600-45316200	Active TSS	Brain Germinal Matrix	brain
5	chr15:45314600-45316400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr15:45314600-45316400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr15:45314600-45316400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:45314600-45316800	Flanking Active TSS	Dnd41	blood
9	chr15:45314800-45316200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:45314800-45316200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:45314800-45316200	Active TSS	NHLF	lung
12	chr15:45314800-45316400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:45314800-45316600	Active TSS	A549	lung
14	chr15:45315200-45316200	Active TSS	Placenta Amnion	Placenta Amnion
15	chr15:45315400-45316200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr15:45315400-45316200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr15:45315400-45316200	Flanking Active TSS	Right Ventricle	heart
18	chr15:45315400-45316400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr15:45315400-45316400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr15:45315400-45316400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr15:45315400-45316400	Flanking Active TSS	Colonic Mucosa	Colon
22	chr15:45315400-45316400	Flanking Active TSS	Gastric	stomach
23	chr15:45315400-45316400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr15:45315400-45316400	Flanking Active TSS	HUVEC	blood vessel
25	chr15:45315400-45316600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr15:45315400-45316600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:45315400-45316600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:45315400-45316600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr15:45315400-45316600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:45315400-45316600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr15:45315400-45316600	Flanking Active TSS	HMEC	breast
32	chr15:45315600-45316200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr15:45315600-45316200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:45315600-45316200	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr15:45315600-45316200	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr15:45315600-45316200	Flanking Active TSS	Pancreas	Pancrea
37	chr15:45315600-45316400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:45315600-45316400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:45315600-45316400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:45315600-45316400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr15:45315600-45316400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr15:45315600-45316400	Flanking Active TSS	Fetal Intestine Small	intestine
43	chr15:45315600-45316400	Flanking Active TSS	Fetal Stomach	stomach
44	chr15:45315600-45316400	Flanking Active TSS	Fetal Thymus	thymus
45	chr15:45315600-45316400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr15:45315600-45316400	Flanking Active TSS	NH-A	brain
47	chr15:45315600-45316600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr15:45315600-45316600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr15:45315600-45316600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr15:45315600-45316600	Flanking Active TSS	Duodenum Mucosa	Duodenum

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