Variant report

Variant	rs4549360
Chromosome Location	chr4:152932263-152932264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10003555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099840	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12509941	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13123917	0.84[AMR][1000 genomes]
rs13143024	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13149643	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17276149	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17276212	0.82[AMR][1000 genomes]
rs4696123	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683987	0.82[AMR][1000 genomes]
rs7695495	0.82[AMR][1000 genomes]
rs890177	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs919013	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4549360	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152929200-152932400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:152929200-152932400	Enhancers	Fetal Brain Male	brain
3	chr4:152929400-152932400	Enhancers	Fetal Brain Female	brain
4	chr4:152929600-152936600	Enhancers	Fetal Thymus	thymus
5	chr4:152930200-152932400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:152930200-152933200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr4:152930200-152933600	Enhancers	Primary T cells from cord blood	blood
8	chr4:152930200-152933800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:152930400-152932400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:152930400-152933800	Enhancers	Thymus	Thymus
11	chr4:152930600-152932400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:152930600-152933400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr4:152930600-152933800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:152930800-152933400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr4:152930800-152934000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr4:152931200-152932600	Enhancers	Spleen	Spleen
17	chr4:152931200-152933000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr4:152931200-152933400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:152931200-152933400	Enhancers	Dnd41	blood
20	chr4:152931400-152932400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:152931800-152932600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:152932000-152932400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:152932000-152932400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr4:152932000-152933200	Enhancers	HSMMtube	muscle
25	chr4:152932000-152942000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:152932200-152932400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:152932200-152932600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:152932200-152932600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr4:152932200-152933600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:152932200-152934600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:152932200-152939600	Weak transcription	Fetal Heart	heart
32	chr4:152932200-152942000	Weak transcription	Brain Inferior Temporal Lobe	brain

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