Variant report

Variant	rs1572434
Chromosome Location	chr6:163815190-163815191
allele	A/G
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:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12210561	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1230320	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1234977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13211340	0.93[ASN][1000 genomes]
rs1541141	0.93[ASN][1000 genomes]
rs1614869	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1737330	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737331	1.00[CHB][hapmap]
rs1737610	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1744929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1764022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764023	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2259476	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2259477	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475390	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475877	0.85[EUR][1000 genomes]
rs2757573	1.00[CHB][hapmap]
rs2757575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757584	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2759386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2759396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4709715	0.93[ASN][1000 genomes]
rs6939187	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73021476	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs768662	0.93[ASN][1000 genomes]
rs7767891	0.93[ASN][1000 genomes]
rs783137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs783139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs803612	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9347747	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9347752	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9347765	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9347766	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9365565	0.93[ASN][1000 genomes]
rs9365575	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9458820	0.93[ASN][1000 genomes]
rs9458843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
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	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
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1572434	QKI	cis	Whole Blood	GTEx

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:163808600-163817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
4	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163811000-163817400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr6:163812600-163816600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr6:163812600-163817400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:163812800-163815400	Enhancers	Adipose Nuclei	Adipose
9	chr6:163813000-163816000	Enhancers	Left Ventricle	heart
10	chr6:163813200-163815600	Enhancers	HUVEC	blood vessel
11	chr6:163813200-163817200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr6:163813200-163817600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:163813400-163816600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:163813400-163817600	Weak transcription	Right Atrium	heart
15	chr6:163813800-163816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:163813800-163816600	Weak transcription	Brain Germinal Matrix	brain
17	chr6:163813800-163817600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:163813800-163817600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:163813800-163817600	Weak transcription	NHDF-Ad	bronchial
20	chr6:163813800-163817800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:163813800-163818000	Weak transcription	Liver	Liver
22	chr6:163814000-163815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:163814000-163815400	Enhancers	Hela-S3	cervix
24	chr6:163814000-163816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:163814000-163816400	Weak transcription	Brain Angular Gyrus	brain
26	chr6:163814000-163817000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:163814000-163817200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:163814000-163817400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:163814000-163817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:163814000-163817400	Weak transcription	Fetal Lung	lung
31	chr6:163814000-163817400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:163814000-163817400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr6:163814000-163817400	Weak transcription	NH-A	brain
34	chr6:163814000-163817600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:163814000-163817600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:163814000-163817600	Weak transcription	Psoas Muscle	Psoas
37	chr6:163814000-163817600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:163814000-163817800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:163814000-163817800	Weak transcription	HSMM	muscle
40	chr6:163814000-163817800	Weak transcription	NHLF	lung
41	chr6:163814200-163815200	Enhancers	NHEK	skin
42	chr6:163814200-163815400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:163814200-163815800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:163814200-163817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:163814200-163817400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:163814200-163817800	Weak transcription	HMEC	breast
47	chr6:163814400-163817400	Weak transcription	Fetal Brain Male	brain
48	chr6:163814600-163815200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:163814600-163815200	Enhancers	HSMMtube	muscle
50	chr6:163814600-163817400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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