Variant report

Variant	rs1737330
Chromosome Location	chr6:163809020-163809021
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: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1230320	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1234977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13211340	0.93[ASN][1000 genomes]
rs1541141	0.93[ASN][1000 genomes]
rs1572434	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614869	0.82[EUR][1000 genomes]
rs1737331	1.00[CHB][hapmap]
rs1744929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs1764022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2259476	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259477	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475390	0.85[EUR][1000 genomes]
rs2757573	1.00[CHB][hapmap]
rs2757575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757584	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2757585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2759386	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2759396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4709715	0.93[ASN][1000 genomes]
rs6939187	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73021476	0.83[AMR][1000 genomes]
rs768662	0.93[ASN][1000 genomes]
rs7767891	0.93[ASN][1000 genomes]
rs783137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs783139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs803612	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9347746	0.85[EUR][1000 genomes]
rs9347765	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs9347766	0.83[AMR][1000 genomes]
rs9365565	0.93[ASN][1000 genomes]
rs9365575	1.00[CHB][hapmap];0.83[AMR][1000 genomes]
rs9458820	0.93[ASN][1000 genomes]
rs9458843	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs9458860	1.00[CHB][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1737330	QKI	cis	Whole Blood	GTEx

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	chr6:163806400-163809400	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	chr6:163807200-163809200	Enhancers	HUVEC	blood vessel
9	chr6:163807600-163809400	Enhancers	Fetal Muscle Leg	muscle
10	chr6:163807800-163809800	Enhancers	Spleen	Spleen
11	chr6:163807800-163810000	Enhancers	HepG2	liver
12	chr6:163808000-163812800	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:163808000-163813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr6:163808200-163809400	Enhancers	Fetal Muscle Trunk	muscle
16	chr6:163808200-163809400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr6:163808200-163812800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:163808400-163812800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:163808600-163812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:163808600-163817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:163808800-163809200	Enhancers	Lung	lung
22	chr6:163808800-163809200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr6:163808800-163809800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:163808800-163812400	Weak transcription	NHEK	skin
25	chr6:163808800-163812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:163808800-163812600	Weak transcription	Hela-S3	cervix
27	chr6:163808800-163812600	Weak transcription	HMEC	breast
28	chr6:163808800-163812800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:163809000-163809600	Enhancers	Psoas Muscle	Psoas
30	chr6:163809000-163812600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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