Variant report

Variant	rs3937593
Chromosome Location	chr2:86210273-86210274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86208939..86211667-chr2:86213596..86215398,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR1A-1	chr2:86209699-86210612	XLOC_002194

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10173155	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10181091	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10181916	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10186005	0.80[CEU][hapmap]
rs10189191	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10198260	0.81[EUR][1000 genomes]
rs1020095	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1036553	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12714161	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12714163	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12714164	0.83[EUR][1000 genomes]
rs12714165	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13397189	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1561330	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1866245	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2083168	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2099616	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2099617	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2276626	0.93[ASN][1000 genomes]
rs4346389	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4480982	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4832018	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4832020	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4832232	0.81[AMR][1000 genomes]
rs4832233	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6547653	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6547654	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547655	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6713002	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6728146	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7569152	0.81[AMR][1000 genomes]
rs7571529	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7586985	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7595420	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7599326	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7606897	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7607138	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs879649	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs893442	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs934829	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs934830	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs934831	0.98[AMR][1000 genomes];0.95[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3937593	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs3937593	IMMT	cis	Whole Blood	GTEx
rs3937593	MRPL35	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86205800-86214200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:86207000-86211200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:86207000-86211400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:86207000-86214400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:86207000-86223400	Weak transcription	Liver	Liver
7	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:86208600-86211200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:86209000-86215600	Weak transcription	Spleen	Spleen

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