Variant report

Variant	rs919013
Chromosome Location	chr4:152945667-152945668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10003555	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11099840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12509941	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13106080	0.84[ASN][1000 genomes]
rs13123917	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13130547	0.84[ASN][1000 genomes]
rs13130730	0.84[ASN][1000 genomes]
rs13143024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13149643	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1469241	0.84[ASN][1000 genomes]
rs17276149	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17276212	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs360909	1.00[CHB][hapmap]
rs360911	1.00[CHB][hapmap]
rs360951	1.00[CHB][hapmap]
rs4549360	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4696123	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7683987	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7695495	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs890177	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[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	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
4	nsv461679	chr4:152935555-152992741	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv595734	chr4:152935555-152992741	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs919013	FGA	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152941600-152946200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:152942000-152946800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr4:152942200-152946400	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:152943800-152946000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:152944000-152946200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:152944000-152947400	Enhancers	Fetal Thymus	thymus
7	chr4:152944200-152946600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:152944200-152947000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:152944400-152945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:152944400-152946000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:152944400-152946800	Enhancers	Brain Substantia Nigra	brain
12	chr4:152944800-152947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:152945000-152946400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr4:152945000-152946400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:152945000-152946800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:152945000-152946800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:152945000-152949400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:152945200-152945800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:152945200-152946600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:152945200-152946600	Enhancers	Brain Angular Gyrus	brain
21	chr4:152945200-152947200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr4:152945400-152946400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:152945400-152946800	Enhancers	Primary B cells from cord blood	blood
24	chr4:152945400-152946800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:152945400-152947000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:152945400-152947600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:152945600-152946400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:152945600-152946800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:152945600-152946800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr4:152945600-152946800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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