Variant report

Variant	rs1764023
Chromosome Location	chr6:163812360-163812361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163809321..163814449-chr6:163833285..163837367,4	K562	blood:
2	chr6:163810627..163812996-chr6:163833031..163836314,4	K562	blood:
3	chr6:163812076..163814211-chr6:163817501..163820074,2	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1230320	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1234977	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13211340	0.80[ASN][1000 genomes]
rs1541141	0.80[ASN][1000 genomes]
rs1572434	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1614869	0.82[EUR][1000 genomes]
rs1737330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1744929	0.82[EUR][1000 genomes]
rs1764022	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];0.86[ASN][1000 genomes]
rs2259477	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2475390	0.85[EUR][1000 genomes]
rs2757575	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2757576	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2757584	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2757585	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2759386	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2759396	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4709715	0.80[ASN][1000 genomes]
rs6939187	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73021476	0.83[AMR][1000 genomes]
rs768662	0.80[ASN][1000 genomes]
rs7767891	0.80[ASN][1000 genomes]
rs783137	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs783139	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs803612	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9347746	0.85[EUR][1000 genomes]
rs9347747	0.95[AFR][1000 genomes]
rs9347765	0.83[AMR][1000 genomes]
rs9347766	0.83[AMR][1000 genomes]
rs9365565	0.80[ASN][1000 genomes]
rs9365575	0.83[AMR][1000 genomes]
rs9458820	0.80[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
rs1764023	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	chr6:163808000-163812800	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	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr6:163809400-163815000	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:163809600-163813600	Weak transcription	Psoas Muscle	Psoas
23	chr6:163809800-163812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
25	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:163811000-163812600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:163811000-163813200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr6:163811000-163817400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:163812200-163813600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr6:163812200-163815000	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links