Variant report

Variant	rs12050483
Chromosome Location	chr15:78447280-78447281
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78445352..78447545-chr15:78452643..78454285,2	K562	blood:
2	chr15:78447133..78448969-chr15:78464297..78466316,2	K562	blood:
3	chr15:78440356..78444633-chr15:78445807..78449726,8	K562	blood:
4	chr15:78440797..78443276-chr15:78447048..78449109,3	MCF-7	breast:
5	chr15:78440387..78445053-chr15:78445574..78449184,7	K562	blood:

Variant related genes	Relation type
ENSG00000166411	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11072733	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11072735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2304826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28413000	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28470276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28599778	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28699018	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7180781	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9972590	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78442600-78447400	Weak transcription	Aorta	Aorta
2	chr15:78442600-78448000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:78442600-78451200	Weak transcription	Lung	lung
4	chr15:78442600-78451400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:78442600-78458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:78442800-78448000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:78442800-78448000	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:78442800-78448600	Weak transcription	Placenta	Placenta
9	chr15:78442800-78448800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:78442800-78449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:78442800-78450000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:78442800-78450200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:78442800-78451800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:78442800-78451800	Weak transcription	Ovary	ovary
15	chr15:78442800-78452200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:78442800-78463400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr15:78442800-78465600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:78443000-78450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:78443000-78450000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:78443000-78450200	Weak transcription	Fetal Stomach	stomach
21	chr15:78443000-78451600	Weak transcription	NH-A	brain
22	chr15:78443000-78452200	Weak transcription	HUVEC	blood vessel
23	chr15:78443200-78451200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:78443200-78451400	Weak transcription	Fetal Brain Female	brain
25	chr15:78443200-78451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:78443200-78451800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:78443400-78447400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:78443400-78447400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:78443400-78447400	Weak transcription	Fetal Lung	lung
30	chr15:78443400-78447400	Weak transcription	A549	lung
31	chr15:78443400-78447600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:78443400-78447600	Weak transcription	HMEC	breast
33	chr15:78443400-78448000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:78443400-78448400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:78443400-78449400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr15:78443400-78450200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:78443400-78452200	Weak transcription	Fetal Brain Male	brain
38	chr15:78443400-78452200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr15:78443400-78453400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:78443400-78454000	Weak transcription	Fetal Kidney	kidney
41	chr15:78443400-78458000	Weak transcription	Stomach Mucosa	stomach
42	chr15:78443600-78447400	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:78443600-78447400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:78443600-78447400	Weak transcription	Adipose Nuclei	Adipose
45	chr15:78443600-78447600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:78443600-78447600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr15:78443600-78447800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:78443600-78447800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:78443600-78448000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr15:78443600-78448000	Weak transcription	Primary T cells fromperipheralblood	blood

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