Variant report

Variant	rs34088794
Chromosome Location	chr15:40665420-40665421
allele	A/G
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	SPI1	chr15:40665076-40665547	HL-60	blood:	n/a	chr15:40665320-40665333
2	SPI1	chr15:40665027-40665644	HL-60	blood:	n/a	chr15:40665320-40665333
3	SPI1	chr15:40665210-40665439	K562	blood:	n/a	chr15:40665320-40665333
4	MAFK	chr15:40665317-40665591	IMR90	lung:	n/a	n/a
5	FOS	chr15:40665252-40665728	HUVEC	blood vessel:	n/a	chr15:40665436-40665447

No.	Distal block	Cell Line	Cell type
1	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:
2	chr15:40658920..40662804-chr15:40663316..40668232,4	MCF-7	breast:
3	chr15:40661633..40663209-chr15:40664066..40666286,2	K562	blood:
4	chr15:40663732..40667062-chr15:40674726..40678158,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259368	TF binding region
ENSG00000261374	TF binding region
ENSG00000128944	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000140323	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11541642	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11557072	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11858714	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs17671194	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17671250	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17672041	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs17733008	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3803358	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55788133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55944373	1.00[AFR][1000 genomes]
rs55982218	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56044352	1.00[AFR][1000 genomes]
rs56190115	1.00[AFR][1000 genomes]
rs56334337	1.00[AFR][1000 genomes]
rs7164132	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7164321	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7166991	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7169262	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7169404	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7172000	0.87[EUR][1000 genomes]
rs8026523	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027487	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033303	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8033938	0.90[EUR][1000 genomes]
rs8037207	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040755	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs34088794	C15orf23	cis	multi-tissue	Pritchard
rs34088794	KNSTRN	cis	Esophagus Muscularis	GTEx
rs34088794	KNSTRN	cis	Muscle Skeletal	GTEx
rs34088794	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs34088794	IVD	cis	Esophagus Mucosa	GTEx
rs34088794	IVD	cis	lung	GTEx
rs34088794	KNSTRN	cis	Nerve Tibial	GTEx
rs34088794	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs34088794	IVD	cis	Esophagus Muscularis	GTEx
rs34088794	KNSTRN	cis	Heart Left Ventricle	GTEx
rs34088794	KNSTRN	cis	Artery Aorta	GTEx
rs34088794	IVD	cis	Nerve Tibial	GTEx
rs34088794	KNSTRN	cis	Artery Tibial	GTEx
rs34088794	KNSTRN	cis	Esophagus Mucosa	GTEx
rs34088794	IVD	cis	Thyroid	GTEx
rs34088794	KNSTRN	cis	Whole Blood	GTEx
rs34088794	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs34088794	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs34088794	KNSTRN	cis	lung	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
2	chr15:40661000-40669600	Weak transcription	HSMM	muscle
3	chr15:40661000-40671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
5	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
7	chr15:40663800-40674200	Weak transcription	Right Ventricle	heart
8	chr15:40664000-40665600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr15:40664000-40665800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:40664400-40665600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr15:40664400-40665600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr15:40664400-40665600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr15:40664600-40665600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr15:40664600-40665600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:40664600-40665600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:40664600-40665600	Enhancers	Osteobl	bone
17	chr15:40664600-40665800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr15:40664600-40665800	Enhancers	HUVEC	blood vessel
19	chr15:40664600-40665800	Enhancers	NHDF-Ad	bronchial
20	chr15:40664800-40665600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:40664800-40665600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:40664800-40665600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:40664800-40665600	Enhancers	Adipose Nuclei	Adipose
24	chr15:40664800-40665600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr15:40665000-40665600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:40665000-40665800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr15:40665000-40665800	Enhancers	Placenta	Placenta
28	chr15:40665200-40665600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:40665200-40671400	Weak transcription	Spleen	Spleen
30	chr15:40665200-40674800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:40665200-40674800	Weak transcription	Fetal Brain Female	brain
32	chr15:40665400-40665600	Enhancers	NHEK	skin
33	chr15:40665400-40669600	Weak transcription	HSMMtube	muscle
34	chr15:40665400-40674800	Weak transcription	Fetal Lung	lung

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