Variant report

Variant	rs768662
Chromosome Location	chr6:163808481-163808482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163808044..163809633-chr6:163814692..163817070,2	K562	blood:
2	chr6:163800485..163802168-chr6:163807944..163809587,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13211340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.93[ASN][1000 genomes]
rs1737323	0.89[CEU][hapmap]
rs1737330	0.93[ASN][1000 genomes]
rs1764022	0.93[ASN][1000 genomes]
rs1764023	0.80[ASN][1000 genomes]
rs2259476	0.93[ASN][1000 genomes]
rs2259477	0.93[ASN][1000 genomes]
rs2757575	0.93[ASN][1000 genomes]
rs2757576	0.93[ASN][1000 genomes]
rs4709715	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	0.93[ASN][1000 genomes]
rs7767891	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365578	1.00[CHB][hapmap]
rs9458820	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs768662	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
2	chr6:163802600-163812800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:163803200-163812600	Weak transcription	Fetal Heart	heart
4	chr6:163805400-163813000	Weak transcription	HSMM	muscle
5	chr6:163806400-163809400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:163806400-163810000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr6:163806400-163810200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr6:163807200-163808600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:163807200-163809200	Enhancers	HUVEC	blood vessel
10	chr6:163807400-163808800	Enhancers	NHEK	skin
11	chr6:163807600-163808800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:163807600-163808800	Enhancers	Hela-S3	cervix
13	chr6:163807600-163809000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:163807600-163809400	Enhancers	Fetal Muscle Leg	muscle
15	chr6:163807800-163808600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:163807800-163808800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:163807800-163808800	Weak transcription	Lung	lung
18	chr6:163807800-163808800	Enhancers	HMEC	breast
19	chr6:163807800-163809800	Enhancers	Spleen	Spleen
20	chr6:163807800-163810000	Enhancers	HepG2	liver
21	chr6:163808000-163809000	Weak transcription	Psoas Muscle	Psoas
22	chr6:163808000-163812800	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:163808000-163813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:163808200-163809400	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:163808200-163809400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr6:163808200-163812800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:163808400-163808800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:163808400-163812800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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