Variant report

Variant	rs1737333
Chromosome Location	chr6:163812707-163812708
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: 135 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1003528	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016501	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016502	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1040514	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1047944	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1230321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234603	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	1.00[ASN][1000 genomes]
rs1614795	1.00[ASN][1000 genomes]
rs1619076	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1619863	1.00[ASN][1000 genomes]
rs1629251	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737332	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1737600	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737603	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737604	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744925	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744927	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	1.00[ASN][1000 genomes]
rs2038147	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2038148	0.81[CEU][hapmap]
rs2057003	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092406	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092407	1.00[ASN][1000 genomes]
rs2179523	1.00[ASN][1000 genomes]
rs2179524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2484877	1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757588	1.00[CHB][hapmap]
rs2757589	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	1.00[ASN][1000 genomes]
rs2759383	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759387	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759389	1.00[ASN][1000 genomes]
rs2759390	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759391	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	1.00[ASN][1000 genomes]
rs2759395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759398	1.00[ASN][1000 genomes]
rs2759399	1.00[ASN][1000 genomes]
rs2784865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784867	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	1.00[CHB][hapmap]
rs2874602	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	1.00[ASN][1000 genomes]
rs6455902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6455903	1.00[ASN][1000 genomes]
rs6455904	1.00[ASN][1000 genomes]
rs6909364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6913113	1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915247	1.00[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6926584	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6927417	1.00[ASN][1000 genomes]
rs6931049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721190	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7768051	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7775850	1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783138	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs814143	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295223	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295224	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347755	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347759	1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9365574	1.00[ASN][1000 genomes]
rs9365577	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9456866	1.00[ASN][1000 genomes]
rs9456869	1.00[CHB][hapmap];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
rs1737333	QKI	cis	uninvolved skin	skin_eQTL
rs1737333	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:33 , 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	chr6:163805400-163813000	Weak transcription	HSMM	muscle
4	chr6:163808000-163812800	Weak transcription	Brain Hippocampus Middle	brain
5	chr6:163808000-163813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:163808000-163817000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:163808200-163812800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:163808400-163812800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:163808600-163812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:163808600-163817600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:163808800-163812800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:163809200-163813200	Weak transcription	HUVEC	blood vessel
13	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:163809400-163813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:163809400-163815000	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:163809600-163813600	Weak transcription	Psoas Muscle	Psoas
17	chr6:163809800-163812800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
19	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:163811000-163813200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:163811000-163817400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:163812200-163813600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr6:163812200-163815000	Weak transcription	Placenta	Placenta
24	chr6:163812400-163812800	Enhancers	NHEK	skin
25	chr6:163812600-163812800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:163812600-163812800	Enhancers	Hela-S3	cervix
27	chr6:163812600-163813200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:163812600-163813200	Enhancers	HMEC	breast
29	chr6:163812600-163813400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:163812600-163813400	Enhancers	Fetal Heart	heart
31	chr6:163812600-163814000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:163812600-163816600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr6:163812600-163817400	Enhancers	Cortex derived primary cultured neurospheres	brain

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