Variant report

Variant	rs55788133
Chromosome Location	chr15:40664239-40664240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40603175..40604974-chr15:40662055..40664478,2	K562	blood:
2	chr15:40660534..40665869-chr15:40673827..40676646,4	K562	blood:
3	chr15:40658920..40662804-chr15:40663316..40668232,4	MCF-7	breast:
4	chr15:40661633..40663209-chr15:40664066..40666286,2	K562	blood:
5	chr15:40663732..40667062-chr15:40674726..40678158,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DISP2-1	chr15:40664026-40664323	ENSG00000259714.1
2	lnc-DISP2-1	chr15:40663865-40664323	NONHSAT041834

No data

Variant related genes	Relation type
ENSG00000259198	Chromatin interaction
ENSG00000259368	Chromatin interaction
ENSG00000128944	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]
rs34088794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803358	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[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
rs55788133	KNSTRN	cis	Esophagus Muscularis	GTEx
rs55788133	KNSTRN	cis	Esophagus Mucosa	GTEx
rs55788133	KNSTRN	cis	Heart Left Ventricle	GTEx
rs55788133	C15orf23	cis	multi-tissue	Pritchard
rs55788133	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs55788133	KNSTRN	cis	Artery Aorta	GTEx
rs55788133	KNSTRN	cis	lung	GTEx
rs55788133	IVD	cis	Thyroid	GTEx
rs55788133	KNSTRN	cis	Muscle Skeletal	GTEx
rs55788133	C15orf23	Cis_1M	lymphoblastoid	RTeQTL
rs55788133	IVD	cis	Nerve Tibial	GTEx
rs55788133	KNSTRN	cis	Artery Tibial	GTEx
rs55788133	IVD	cis	lung	GTEx
rs55788133	IVD	cis	Esophagus Muscularis	GTEx
rs55788133	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs55788133	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs55788133	KNSTRN	cis	Nerve Tibial	GTEx
rs55788133	KNSTRN	cis	Whole Blood	GTEx
rs55788133	IVD	cis	Esophagus Mucosa	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40660800-40664400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr15:40660800-40664600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr15:40660800-40664600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:40660800-40664600	Weak transcription	HUVEC	blood vessel
5	chr15:40660800-40664600	Weak transcription	Osteobl	bone
6	chr15:40660800-40664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:40660800-40665200	Strong transcription	Fetal Brain Female	brain
8	chr15:40660800-40674800	Weak transcription	Esophagus	oesophagus
9	chr15:40661000-40664800	Weak transcription	Adipose Nuclei	Adipose
10	chr15:40661000-40669600	Weak transcription	HSMM	muscle
11	chr15:40661000-40671400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:40661200-40664800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:40661200-40674800	Weak transcription	Fetal Brain Male	brain
14	chr15:40661400-40665000	Weak transcription	HSMMtube	muscle
15	chr15:40661600-40664600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:40661600-40674600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr15:40662400-40664800	Weak transcription	Spleen	Spleen
18	chr15:40662600-40665000	Weak transcription	Placenta	Placenta
19	chr15:40663200-40674800	Weak transcription	Brain Germinal Matrix	brain
20	chr15:40663400-40664400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr15:40663600-40665000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:40663600-40665200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:40663800-40674200	Weak transcription	Right Ventricle	heart
24	chr15:40664000-40665600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:40664000-40665800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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