Variant report

Variant	rs6752371
Chromosome Location	chr2:86793121-86793122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86748455..86750758-chr2:86791474..86793694,2	MCF-7	breast:
2	chr2:86787974..86789865-chr2:86792172..86793927,2	K562	blood:
3	chr2:86788760..86791433-chr2:86791684..86794158,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228363	Chromatin interaction
ENSG00000115561	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1015117	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs10169746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10184584	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10184879	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs10184985	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10187880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10188515	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10432704	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1080551	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11127045	1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs11127046	0.94[ASN][1000 genomes]
rs11127047	0.92[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11676576	0.94[ASN][1000 genomes]
rs11689330	0.98[ASN][1000 genomes]
rs11689593	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328637	0.82[ASN][1000 genomes]
rs12613282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12614447	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs12615285	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs12623509	1.00[CHB][hapmap];0.80[GIH][hapmap];0.81[ASN][1000 genomes]
rs12714188	0.94[ASN][1000 genomes]
rs12714190	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12714198	0.90[CHD][hapmap];0.94[JPT][hapmap]
rs12714199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12987172	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs12991654	0.98[ASN][1000 genomes]
rs13015620	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs13034615	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[ASN][1000 genomes]
rs13390713	0.94[ASN][1000 genomes]
rs13408041	0.93[ASN][1000 genomes]
rs13429696	0.94[ASN][1000 genomes]
rs1518807	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1629293	1.00[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs218059	0.91[ASN][1000 genomes]
rs2241803	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap]
rs2367546	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs308900	0.81[ASN][1000 genomes]
rs308902	0.82[GIH][hapmap]
rs308903	0.80[GIH][hapmap]
rs308907	0.81[GIH][hapmap]
rs308910	0.85[GIH][hapmap]
rs308911	0.81[GIH][hapmap]
rs308914	0.87[GIH][hapmap]
rs3201448	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs34666164	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755002	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap]
rs422240	0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs4832040	0.93[ASN][1000 genomes]
rs4832042	0.97[ASN][1000 genomes]
rs4832045	0.95[ASN][1000 genomes]
rs4832296	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4832297	0.94[ASN][1000 genomes]
rs4832299	0.87[ASN][1000 genomes]
rs4832300	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs4832302	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832304	0.97[CHD][hapmap];0.82[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];0.84[ASN][1000 genomes]
rs62147239	0.97[ASN][1000 genomes]
rs6728211	0.95[ASN][1000 genomes]
rs6731025	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6738663	1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.99[ASN][1000 genomes]
rs6750226	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[ASN][1000 genomes]
rs7557796	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs7568840	0.96[CEU][hapmap];0.88[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7570640	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584882	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7587034	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7593151	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7596717	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7601115	0.82[ASN][1000 genomes]
rs8179729	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9284788	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.93[ASN][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking 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 target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6752371	POLR1A	cis	parietal	SCAN
rs6752371	VPS24	Cis_1M	lymphoblastoid	RTeQTL
rs6752371	C2orf68	cis	cerebellum	SCAN
rs6752371	VPS24	cis	lymphoblastoid	seeQTL
rs6752371	POLR1A	cis	cerebellum	SCAN
rs6752371	PTCD3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86791000-86793800	Weak transcription	Aorta	Aorta
2	chr2:86791200-86793200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:86791200-86793200	Weak transcription	Pancreas	Pancrea
4	chr2:86791200-86793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:86791200-86793400	Weak transcription	Esophagus	oesophagus
6	chr2:86791200-86793400	Weak transcription	Fetal Brain Male	brain
7	chr2:86791200-86793400	Weak transcription	Fetal Brain Female	brain
8	chr2:86791200-86793400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:86791200-86793400	Weak transcription	Left Ventricle	heart
10	chr2:86791200-86793600	Weak transcription	Right Atrium	heart
11	chr2:86791200-86794400	Weak transcription	Spleen	Spleen
12	chr2:86791400-86793200	Weak transcription	HepG2	liver
13	chr2:86791400-86793200	Weak transcription	K562	blood
14	chr2:86791400-86793400	Weak transcription	HMEC	breast
15	chr2:86791400-86793400	Weak transcription	Osteobl	bone
16	chr2:86792800-86793200	Enhancers	Fetal Heart	heart

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