Variant report

Variant	rs4594835
Chromosome Location	chr5:74168448-74168449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74160756..74162981-chr5:74168227..74170471,2	MCF-7	breast:
2	chr5:74161211..74163484-chr5:74166665..74168829,2	K562	blood:
3	chr5:74161211..74163484-chr5:74166665..74169792,3	K562	blood:

Variant related genes	Relation type
ENSG00000198780	Chromatin interaction
ENSG00000271714	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10062244	0.82[ASN][1000 genomes]
rs1043968	0.83[ASN][1000 genomes]
rs10515191	0.81[ASN][1000 genomes]
rs11556477	0.80[ASN][1000 genomes]
rs11739122	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11740871	0.83[ASN][1000 genomes]
rs11741789	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11741825	0.87[ASN][1000 genomes]
rs11742460	0.82[ASN][1000 genomes]
rs11742773	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11746702	0.85[ASN][1000 genomes]
rs11747965	0.88[ASN][1000 genomes]
rs11749137	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948188	0.81[ASN][1000 genomes]
rs11955898	0.88[ASN][1000 genomes]
rs1350097	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1447453	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531103	0.83[ASN][1000 genomes]
rs15694	0.85[ASN][1000 genomes]
rs16872297	0.88[ASN][1000 genomes]
rs16872299	0.85[ASN][1000 genomes]
rs16872333	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872346	0.90[ASN][1000 genomes]
rs16872347	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16872364	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17670867	0.80[ASN][1000 genomes]
rs17670897	0.80[ASN][1000 genomes]
rs17670975	0.83[ASN][1000 genomes]
rs17671140	0.83[ASN][1000 genomes]
rs17738266	0.80[ASN][1000 genomes]
rs17738565	0.83[ASN][1000 genomes]
rs17738645	0.83[ASN][1000 genomes]
rs17738674	0.83[ASN][1000 genomes]
rs1812122	0.96[ASN][1000 genomes]
rs1992712	0.83[ASN][1000 genomes]
rs1993370	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1993372	0.83[ASN][1000 genomes]
rs2044410	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061162	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084115	0.82[ASN][1000 genomes]
rs2084116	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084118	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084119	0.80[ASN][1000 genomes]
rs2100033	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2166361	0.87[ASN][1000 genomes]
rs2314936	0.81[ASN][1000 genomes]
rs2314937	0.81[ASN][1000 genomes]
rs34496480	0.82[ASN][1000 genomes]
rs3733794	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4425487	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5020673	0.85[ASN][1000 genomes]
rs55870102	0.81[ASN][1000 genomes]
rs56068548	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56202905	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276104	0.88[ASN][1000 genomes]
rs56365996	0.81[ASN][1000 genomes]
rs58184895	0.83[ASN][1000 genomes]
rs58367004	0.83[ASN][1000 genomes]
rs59110717	0.81[ASN][1000 genomes]
rs60663580	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62366413	0.80[ASN][1000 genomes]
rs62366414	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62366415	0.80[ASN][1000 genomes]
rs62366416	0.80[ASN][1000 genomes]
rs62366417	0.83[ASN][1000 genomes]
rs62366418	0.80[ASN][1000 genomes]
rs62366419	0.80[ASN][1000 genomes]
rs62366420	0.80[ASN][1000 genomes]
rs62366421	0.80[ASN][1000 genomes]
rs62366423	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366424	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366426	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366450	0.83[ASN][1000 genomes]
rs62366453	0.83[ASN][1000 genomes]
rs62366454	0.83[ASN][1000 genomes]
rs62366455	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366456	0.82[ASN][1000 genomes]
rs62366457	0.83[ASN][1000 genomes]
rs62366458	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62366459	0.83[ASN][1000 genomes]
rs62367762	0.88[ASN][1000 genomes]
rs62367765	0.83[ASN][1000 genomes]
rs62367766	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453084	0.85[ASN][1000 genomes]
rs6453086	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453087	0.88[ASN][1000 genomes]
rs6859014	0.82[ASN][1000 genomes]
rs6861730	0.82[ASN][1000 genomes]
rs6863738	0.85[ASN][1000 genomes]
rs6866082	0.82[ASN][1000 genomes]
rs6873067	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874094	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6874609	0.85[ASN][1000 genomes]
rs6877116	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6877442	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879781	0.83[ASN][1000 genomes]
rs6882499	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883061	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6884843	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885093	0.85[ASN][1000 genomes]
rs6885675	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6890815	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897698	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897904	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72764666	0.83[ASN][1000 genomes]
rs72764681	0.83[ASN][1000 genomes]
rs73120619	0.87[ASN][1000 genomes]
rs7708203	0.87[ASN][1000 genomes]
rs7717223	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7724292	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728889	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686657	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4594835	NSA2	cis	Heart Left Ventricle	GTEx
rs4594835	NSA2	cis	Esophagus Mucosa	GTEx
rs4594835	NSA2	cis	Adipose Subcutaneous	GTEx
rs4594835	NSA2	cis	Muscle Skeletal	GTEx
rs4594835	NSA2	cis	Whole Blood	GTEx
rs4594835	NSA2	cis	Artery Aorta	GTEx
rs4594835	NSA2	cis	Skin Sun Exposed Lower leg	GTEx
rs4594835	NSA2	cis	Nerve Tibial	GTEx
rs4594835	TINP1	Cis_1M	lymphoblastoid	RTeQTL
rs4594835	NSA2	cis	lung	GTEx
rs4594835	NSA2	cis	Thyroid	GTEx
rs4594835	NSA2	cis	Esophagus Muscularis	GTEx
rs4594835	NSA2	cis	Artery Tibial	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74164800-74172000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74165400-74172200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74166800-74168800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:74168200-74171800	Enhancers	HepG2	liver

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