Variant report

Variant	rs1764008
Chromosome Location	chr6:163789736-163789737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163788145..163792575-chr6:163834513..163836469,4	K562	blood:

Variant related genes	Relation type
ENSG00000270419	Chromatin interaction
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1016501	1.00[CHB][hapmap]
rs1016502	1.00[CHB][hapmap]
rs1040514	1.00[CHB][hapmap]
rs1230321	1.00[CHB][hapmap]
rs1234603	1.00[CHB][hapmap]
rs1234604	1.00[CHB][hapmap]
rs1619076	1.00[CHB][hapmap]
rs1629251	1.00[CHB][hapmap]
rs1737317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CHB][hapmap]
rs1737333	1.00[CHB][hapmap]
rs1737600	1.00[CHB][hapmap]
rs1737601	1.00[CHB][hapmap]
rs1737603	1.00[CHB][hapmap]
rs1737604	1.00[CHB][hapmap]
rs1737606	1.00[CHB][hapmap]
rs1737607	1.00[CHB][hapmap]
rs1737611	1.00[CHB][hapmap]
rs1744924	1.00[CHB][hapmap]
rs1744925	1.00[CHB][hapmap]
rs1744926	1.00[CHB][hapmap]
rs1744927	1.00[CHB][hapmap]
rs1744933	1.00[CHB][hapmap]
rs2038147	1.00[CHB][hapmap]
rs2092406	1.00[CHB][hapmap]
rs2179524	1.00[CHB][hapmap]
rs2321702	1.00[CHB][hapmap]
rs2745364	1.00[CHB][hapmap]
rs2757580	1.00[CHB][hapmap]
rs2757581	1.00[CHB][hapmap]
rs2757586	1.00[CHB][hapmap]
rs2757587	1.00[CHB][hapmap]
rs2757588	1.00[CHB][hapmap]
rs2757589	1.00[CHB][hapmap]
rs2759383	1.00[CHB][hapmap]
rs2759384	1.00[CHB][hapmap]
rs2759385	1.00[CHB][hapmap]
rs2759387	1.00[CHB][hapmap]
rs2759388	1.00[CHB][hapmap]
rs2759390	1.00[CHB][hapmap]
rs2759391	1.00[CHB][hapmap]
rs2759392	1.00[CHB][hapmap]
rs2759395	1.00[CHB][hapmap]
rs2784865	1.00[CHB][hapmap]
rs2784867	1.00[CHB][hapmap]
rs2784874	1.00[CHB][hapmap]
rs2874602	1.00[CHB][hapmap]
rs4708997	1.00[CHB][hapmap]
rs6455902	1.00[CHB][hapmap]
rs6914387	1.00[CHB][hapmap]
rs6924130	1.00[CHB][hapmap]
rs6926584	1.00[CHB][hapmap]
rs721190	1.00[CHB][hapmap]
rs721191	1.00[CHB][hapmap]
rs7749189	1.00[CHB][hapmap]
rs7761088	1.00[CHB][hapmap]
rs7768051	1.00[CHB][hapmap]
rs7769145	1.00[CHB][hapmap]
rs783136	1.00[CHB][hapmap]
rs783138	1.00[CHB][hapmap]
rs783140	1.00[CHB][hapmap]
rs813640	1.00[CHB][hapmap]
rs814143	1.00[CHB][hapmap]
rs9295222	1.00[CHB][hapmap]
rs9295223	1.00[CHB][hapmap]
rs9295224	1.00[CHB][hapmap]
rs9347754	1.00[CHB][hapmap]
rs9347755	1.00[CHB][hapmap]
rs9347756	1.00[CHB][hapmap]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap]
rs9365573	1.00[CHB][hapmap]
rs9456869	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
rs1764008	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163777400-163790000	Weak transcription	Spleen	Spleen
2	chr6:163777400-163791400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:163778400-163790800	Weak transcription	Right Atrium	heart
4	chr6:163783800-163791800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:163784000-163791000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:163784200-163790000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:163787600-163791800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:163788000-163791000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:163788400-163790000	Enhancers	HUVEC	blood vessel
10	chr6:163789000-163789800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:163789000-163790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:163789000-163790800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:163789000-163791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:163789600-163789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:163789600-163789800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:163789600-163789800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:163789600-163790000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:163789600-163790400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:163789600-163790400	Enhancers	Brain Anterior Caudate	brain
20	chr6:163789600-163791000	Enhancers	Brain Substantia Nigra	brain
21	chr6:163789600-163792600	Enhancers	Brain Hippocampus Middle	brain

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