Variant report

Variant	rs16894934
Chromosome Location	chr6:163805742-163805743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163799700..163801284-chr6:163804294..163805880,2	MCF-7	breast:
2	chr6:163799290..163800994-chr6:163802923..163805842,2	K562	blood:
3	chr6:163801051..163802963-chr6:163805360..163807590,2	K562	blood:
4	chr6:163804907..163807228-chr6:163823895..163826768,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11962088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11964436	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13202733	0.82[ASN][1000 genomes]
rs13204052	0.82[ASN][1000 genomes]
rs1414724	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1591536	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16895015	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs1737319	0.86[CEU][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1737320	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1737321	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs1737322	0.86[CEU][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1737324	0.86[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1737325	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1737326	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1737327	0.87[ASN][1000 genomes]
rs1737328	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17591955	0.94[CHB][hapmap]
rs1764009	0.90[JPT][hapmap]
rs1764010	0.86[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1764011	0.86[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1764012	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1764013	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1764015	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1764019	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1764020	0.85[ASN][1000 genomes]
rs2064230	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064231	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2065857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143358	0.88[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs2294698	0.82[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap]
rs2294703	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs2294706	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2294709	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs34979127	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3756879	0.88[CHB][hapmap]
rs3763197	0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3857503	0.81[ASN][1000 genomes]
rs3857504	0.85[CEU][hapmap];0.88[CHB][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3904720	0.86[CEU][hapmap];0.88[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4263561	0.89[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4709714	0.86[ASN][1000 genomes]
rs4709716	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4709717	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs55779730	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56062115	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6455897	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6921172	0.85[ASN][1000 genomes]
rs6931903	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs6939218	0.85[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715020	0.84[JPT][hapmap]
rs718878	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718879	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73013582	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73013591	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73015309	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73015318	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7758706	0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[JPT][hapmap]
rs7772756	0.93[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9346960	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9364687	0.81[ASN][1000 genomes]
rs9364689	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9364691	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9364692	0.83[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16894934	UNC93A	cis	parietal	SCAN
rs16894934	QKI	Cis_1M	lymphoblastoid	RTeQTL
rs16894934	LOC441177	cis	cerebellum	SCAN
rs16894934	SYNPR	trans	parietal	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163802600-163807600	Weak transcription	Fetal Muscle Leg	muscle
3	chr6:163802600-163812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:163803000-163807200	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:163803200-163812600	Weak transcription	Fetal Heart	heart
6	chr6:163803400-163807800	Weak transcription	HepG2	liver
7	chr6:163804800-163805800	Enhancers	NHEK	skin
8	chr6:163805400-163806400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr6:163805400-163806400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr6:163805400-163807600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:163805400-163813000	Weak transcription	HSMM	muscle
12	chr6:163805600-163806400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr6:163805600-163806400	Enhancers	Hela-S3	cervix
14	chr6:163805600-163807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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