Variant report

Variant	rs4785522
Chromosome Location	chr16:48582419-48582420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11076574	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12443672	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12443883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12597314	0.83[EUR][1000 genomes]
rs16946440	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1825684	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1906047	0.83[EUR][1000 genomes]
rs3743778	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4785523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4785524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55987128	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61268951	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9939103	0.82[JPT][hapmap]

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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
2	chr16:48571200-48586000	Weak transcription	NH-A	brain
3	chr16:48571200-48586800	Weak transcription	HUVEC	blood vessel
4	chr16:48571600-48586800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:48571800-48588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:48572200-48588400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr16:48572400-48585600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:48572400-48586000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:48572400-48592400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:48572600-48586000	Weak transcription	K562	blood
11	chr16:48572800-48584000	Strong transcription	Thymus	Thymus
12	chr16:48572800-48587000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr16:48573200-48586800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr16:48573200-48588600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr16:48573600-48587000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr16:48573600-48587800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:48573600-48588600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:48573800-48586400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:48573800-48587800	Strong transcription	Fetal Muscle Trunk	muscle
20	chr16:48573800-48588800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:48573800-48589400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr16:48573800-48589800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:48574000-48584200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:48574000-48585400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr16:48574200-48589400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:48574600-48587800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr16:48574600-48588800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr16:48574600-48589800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr16:48575000-48586800	Weak transcription	Hela-S3	cervix
30	chr16:48575000-48588800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr16:48575000-48589000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:48575200-48583600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr16:48575600-48586000	Weak transcription	Brain Substantia Nigra	brain
34	chr16:48575600-48587800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:48576000-48583200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr16:48576000-48583600	Weak transcription	HSMMtube	muscle
37	chr16:48576200-48587600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:48576200-48587600	Strong transcription	Fetal Muscle Leg	muscle
39	chr16:48576200-48588200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:48576200-48588800	Strong transcription	Placenta	Placenta
41	chr16:48576200-48593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr16:48576400-48586200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:48576400-48586800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:48576600-48586400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:48576800-48583600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr16:48576800-48584000	Strong transcription	Primary B cells from cord blood	blood
47	chr16:48577200-48596800	Weak transcription	Colonic Mucosa	Colon
48	chr16:48577400-48587600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr16:48577400-48587600	Strong transcription	Fetal Lung	lung
50	chr16:48577600-48587800	Weak transcription	Small Intestine	intestine

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