Variant report

Variant	rs34433592
Chromosome Location	chr6:36826940-36826941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:36826015-36826997	IMR90	lung:	n/a	chr6:36826312-36826321

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36819191..36821393-chr6:36826640..36829329,2	MCF-7	breast:
2	chr6:36815094..36818441-chr6:36826786..36830432,3	K562	blood:

Variant related genes	Relation type
PPIL1	TF binding region

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11542163	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751956	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753183	0.81[EUR][1000 genomes]
rs11757851	0.81[EUR][1000 genomes]
rs11759158	0.81[EUR][1000 genomes]
rs11759163	0.81[EUR][1000 genomes]
rs12660916	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660989	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191679	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192293	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200132	1.00[ASN][1000 genomes]
rs13205108	0.81[EUR][1000 genomes]
rs13205292	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206310	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207209	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210299	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219913	0.82[EUR][1000 genomes]
rs17552005	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405617	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34510528	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597881	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869908	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34913693	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819257	0.84[EUR][1000 genomes]
rs36098393	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569352	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569356	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73732013	0.81[AFR][1000 genomes]
rs9470425	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470429	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34433592	C6orf89	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
2	chr6:36817200-36830200	Weak transcription	Fetal Lung	lung
3	chr6:36817200-36833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:36817200-36841200	Weak transcription	Fetal Brain Male	brain
5	chr6:36817200-36842000	Weak transcription	Stomach Mucosa	stomach
6	chr6:36819000-36830000	Weak transcription	Fetal Kidney	kidney
7	chr6:36819000-36840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:36819400-36834000	Strong transcription	Dnd41	blood
9	chr6:36819400-36841800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:36819600-36833400	Strong transcription	Primary T cells from cord blood	blood
11	chr6:36819800-36839800	Strong transcription	Fetal Thymus	thymus
12	chr6:36820200-36827000	Strong transcription	Thymus	Thymus
13	chr6:36820400-36827000	Strong transcription	Primary hematopoietic stem cells	blood
14	chr6:36821000-36841400	Weak transcription	Small Intestine	intestine
15	chr6:36821600-36827000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:36821600-36827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:36821600-36828600	Strong transcription	K562	blood
18	chr6:36821600-36830200	Weak transcription	Colon Smooth Muscle	Colon
19	chr6:36821800-36830600	Weak transcription	NHDF-Ad	bronchial
20	chr6:36821800-36839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:36821800-36841400	Weak transcription	HSMMtube	muscle
22	chr6:36822000-36828600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:36822800-36830400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr6:36823000-36827000	Strong transcription	GM12878-XiMat	blood
25	chr6:36823600-36827000	Strong transcription	Fetal Intestine Small	intestine
26	chr6:36823600-36832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:36823600-36841400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:36823800-36829000	Weak transcription	Brain Germinal Matrix	brain
29	chr6:36823800-36830000	Weak transcription	Gastric	stomach
30	chr6:36823800-36831600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:36823800-36833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:36824000-36829800	Weak transcription	HMEC	breast
33	chr6:36824000-36830000	Weak transcription	Aorta	Aorta
34	chr6:36824000-36831000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:36824200-36828600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:36824200-36830400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr6:36824200-36830400	Weak transcription	Brain Hippocampus Middle	brain
38	chr6:36824200-36833800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:36824400-36827000	Enhancers	Pancreas	Pancrea
40	chr6:36824400-36830400	Weak transcription	Fetal Intestine Large	intestine
41	chr6:36824400-36830400	Weak transcription	A549	lung
42	chr6:36824400-36832400	Weak transcription	HSMM	muscle
43	chr6:36824400-36836600	Weak transcription	Adipose Nuclei	Adipose
44	chr6:36824600-36827000	Enhancers	Left Ventricle	heart
45	chr6:36824600-36828000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr6:36824600-36829000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:36824600-36829800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:36824600-36829800	Weak transcription	Fetal Brain Female	brain
49	chr6:36824600-36830000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:36824600-36830000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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