Variant report

Variant	rs2242322
Chromosome Location	chr15:59456011-59456012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1032178	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1032179	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1032181	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11071411	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11631844	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11633119	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11633205	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12440243	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12908949	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12912558	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12915115	0.82[ASN][1000 genomes]
rs17302219	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2029212	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2171286	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2242323	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899644	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35227552	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794496	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3794497	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3794498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775120	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4775123	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4775125	0.89[EUR][1000 genomes]
rs58583822	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62004105	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62004107	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7178908	0.82[ASN][1000 genomes]
rs7181609	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8041615	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1035868	chr15:59402426-59530594	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:59424400-59461400	Strong transcription	Hela-S3	cervix
3	chr15:59425800-59459600	Strong transcription	Liver	Liver
4	chr15:59431800-59467200	Weak transcription	Fetal Brain Female	brain
5	chr15:59432000-59465600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:59432600-59457400	Strong transcription	Placenta	Placenta
7	chr15:59434000-59457600	Strong transcription	GM12878-XiMat	blood
8	chr15:59434200-59467000	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr15:59436000-59473000	Weak transcription	Brain Germinal Matrix	brain
10	chr15:59437800-59484400	Weak transcription	Fetal Brain Male	brain
11	chr15:59438000-59458400	Strong transcription	Duodenum Mucosa	Duodenum
12	chr15:59441000-59457800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:59441000-59458000	Strong transcription	A549	lung
14	chr15:59441200-59457800	Strong transcription	Osteobl	bone
15	chr15:59441800-59459600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:59442400-59457600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:59442600-59457800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:59442800-59457600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:59443200-59462600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:59443400-59461800	Weak transcription	Thymus	Thymus
21	chr15:59443400-59462400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:59444000-59457000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:59445600-59479600	Weak transcription	Fetal Kidney	kidney
24	chr15:59445800-59462000	Weak transcription	Stomach Mucosa	stomach
25	chr15:59445800-59467000	Weak transcription	Fetal Heart	heart
26	chr15:59447000-59463600	Weak transcription	Primary B cells from cord blood	blood
27	chr15:59449200-59456200	Strong transcription	HUVEC	blood vessel
28	chr15:59449600-59457800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr15:59450200-59458000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr15:59450400-59456800	Strong transcription	Aorta	Aorta
31	chr15:59451200-59456600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:59451200-59457600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr15:59451200-59462600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:59451200-59473600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr15:59451400-59470400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:59451600-59458000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:59451600-59463200	Weak transcription	Small Intestine	intestine
38	chr15:59451600-59474600	Weak transcription	Psoas Muscle	Psoas
39	chr15:59451800-59459000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:59451800-59462600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr15:59451800-59464600	Weak transcription	Brain Angular Gyrus	brain
42	chr15:59451800-59466000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr15:59452000-59456600	Weak transcription	NH-A	brain
44	chr15:59452000-59457400	Weak transcription	HepG2	liver
45	chr15:59452200-59457600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:59452600-59459400	Strong transcription	Left Ventricle	heart
47	chr15:59453200-59457800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:59453400-59456600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:59453400-59456800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:59453400-59467200	Weak transcription	Colon Smooth Muscle	Colon

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