Variant report

Variant	rs12719030
Chromosome Location	chr7:50485073-50485074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50484672..50487398-chr7:50490393..50493667,4	K562	blood:
2	chr7:50484194..50487347-chr7:50489470..50493667,5	K562	blood:
3	chr7:50473414..50475429-chr7:50484863..50486654,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs11763774	0.86[EUR][1000 genomes]
rs11764792	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11770117	0.90[EUR][1000 genomes]
rs12154303	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533940	0.89[EUR][1000 genomes]
rs12670555	0.89[EUR][1000 genomes]
rs12718910	0.89[EUR][1000 genomes]
rs12719019	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4947641	0.98[EUR][1000 genomes]
rs6964823	0.85[EUR][1000 genomes]
rs6969942	0.89[EUR][1000 genomes]
rs6978646	0.89[EUR][1000 genomes]
rs7789635	0.91[EUR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs12719030	FIGNL1	cis	Artery Aorta	GTEx
rs12719030	FIGNL1	cis	Artery Tibial	GTEx
rs12719030	FIGNL1	cis	lung	GTEx
rs12719030	FIGNL1	cis	Esophagus Muscularis	GTEx
rs12719030	FIGNL1	Cis_1M	lymphoblastoid	RTeQTL
rs12719030	FIGNL1	cis	Thyroid	GTEx
rs12719030	FIGNL1	cis	Adipose Subcutaneous	GTEx
rs12719030	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx
rs12719030	FIGNL1	cis	Nerve Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50470600-50485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:50472400-50486400	Enhancers	Primary B cells from peripheral blood	blood
3	chr7:50481400-50486000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:50481600-50486200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50482800-50485600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:50483000-50485600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:50483000-50486400	Enhancers	Thymus	Thymus
8	chr7:50483000-50486800	Enhancers	Fetal Thymus	thymus
9	chr7:50483200-50485400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:50483200-50486200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:50483400-50485200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr7:50483400-50485600	Enhancers	Primary T cells from cord blood	blood
13	chr7:50483400-50485600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr7:50483400-50486200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr7:50483400-50486200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr7:50483400-50488800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:50483600-50485200	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:50483600-50485600	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:50483600-50485600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:50483800-50485200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr7:50484400-50485200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:50484600-50486000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:50484600-50486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:50484600-50486000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:50484600-50486200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:50484600-50489000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:50484600-50489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:50484800-50485600	Enhancers	GM12878-XiMat	blood
29	chr7:50484800-50486000	Weak transcription	K562	blood
30	chr7:50484800-50486200	Enhancers	Primary B cells from cord blood	blood
31	chr7:50484800-50488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr7:50484800-50488800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:50485000-50485600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:50485000-50486200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:50485000-50486400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:50485000-50490800	Weak transcription	Spleen	Spleen

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