Variant report

Variant	rs13211340
Chromosome Location	chr6:163811839-163811840
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	chr6:163809321..163814449-chr6:163833285..163837367,4	K562	blood:
2	chr6:163810627..163812996-chr6:163833031..163836314,4	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1541141	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.93[ASN][1000 genomes]
rs1737317	1.00[CHD][hapmap]
rs1737323	0.92[CEU][hapmap]
rs1737330	0.93[ASN][1000 genomes]
rs1764022	1.00[CHD][hapmap];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	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	0.93[ASN][1000 genomes]
rs768662	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7767891	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365578	1.00[CHB][hapmap]
rs9458820	0.98[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13211340	QKI	Cis_1M	lymphoblastoid	RTeQTL
rs13211340	PRR18	cis	cerebellum	SCAN

Chromatin state (count:30 , 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	chr6:163808000-163812800	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:163808000-163813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:163808200-163812800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:163808400-163812800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:163808600-163812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:163808600-163817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:163808800-163812400	Weak transcription	NHEK	skin
13	chr6:163808800-163812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:163808800-163812600	Weak transcription	Hela-S3	cervix
15	chr6:163808800-163812600	Weak transcription	HMEC	breast
16	chr6:163808800-163812800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:163809000-163812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:163809200-163813200	Weak transcription	HUVEC	blood vessel
19	chr6:163809400-163812000	Weak transcription	Placenta	Placenta
20	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:163809400-163815000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:163809600-163813600	Weak transcription	Psoas Muscle	Psoas
24	chr6:163809800-163812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
26	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:163811000-163812600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:163811000-163813200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr6:163811000-163817400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:163811600-163812200	Enhancers	Monocytes-CD14+_RO01746	blood

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