Variant report

Variant	rs8033303
Chromosome Location	chr15:40649700-40649701
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	chr15:40649539-40651428	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40641840..40644016-chr15:40647605..40650269,2	K562	blood:
2	chr15:40648717..40650505-chr15:40656910..40660408,3	MCF-7	breast:
3	chr15:40646801..40650118-chr15:40732469..40735250,3	K562	blood:

Variant related genes	Relation type
DISP2	TF binding region
ENSG00000233041	Chromatin interaction
ENSG00000140323	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17671194	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17671250	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17733008	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34088794	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3803358	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55788133	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7164132	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7164321	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7166991	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7169262	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7169404	0.94[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8026523	1.00[ASN][1000 genomes]
rs8027487	1.00[ASN][1000 genomes]
rs8037207	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8040755	0.97[AMR][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:18)

SNP	Gene	Cis/trans	Tissue	Source
rs8033303	C15orf23	cis	multi-tissue	Pritchard
rs8033303	IVD	cis	Thyroid	GTEx
rs8033303	KNSTRN	cis	Adipose Subcutaneous	GTEx
rs8033303	KNSTRN	cis	Nerve Tibial	GTEx
rs8033303	KNSTRN	cis	Heart Left Ventricle	GTEx
rs8033303	KNSTRN	cis	Esophagus Mucosa	GTEx
rs8033303	KNSTRN	cis	Artery Tibial	GTEx
rs8033303	KNSTRN	cis	Skin Sun Exposed Lower leg	GTEx
rs8033303	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs8033303	KNSTRN	cis	Esophagus Muscularis	GTEx
rs8033303	KNSTRN	cis	Whole Blood	GTEx
rs8033303	KNSTRN	cis	lung	GTEx
rs8033303	KNSTRN	cis	Artery Aorta	GTEx
rs8033303	IVD	cis	lung	GTEx
rs8033303	KNSTRN	cis	Muscle Skeletal	GTEx
rs8033303	IVD	cis	Esophagus Muscularis	GTEx
rs8033303	IVD	cis	Nerve Tibial	GTEx
rs8033303	C15orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40636400-40650000	Weak transcription	Right Atrium	heart
2	chr15:40643400-40649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:40644200-40649800	Weak transcription	Primary T cells from cord blood	blood
4	chr15:40645200-40649800	Weak transcription	Small Intestine	intestine
5	chr15:40645800-40649800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:40646600-40649800	Weak transcription	A549	lung
7	chr15:40646800-40649800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:40646800-40649800	Weak transcription	Pancreas	Pancrea
9	chr15:40647000-40649800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:40647000-40649800	Weak transcription	Liver	Liver
11	chr15:40647000-40649800	Weak transcription	Placenta	Placenta
12	chr15:40647000-40649800	Weak transcription	Right Ventricle	heart
13	chr15:40647000-40649800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:40647000-40649800	Weak transcription	HSMMtube	muscle
15	chr15:40647000-40649800	Weak transcription	K562	blood
16	chr15:40647000-40649800	Weak transcription	Osteobl	bone
17	chr15:40647000-40650000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:40647000-40650000	Weak transcription	Gastric	stomach
19	chr15:40647000-40650000	Weak transcription	Psoas Muscle	Psoas
20	chr15:40647000-40650000	Weak transcription	HSMM	muscle
21	chr15:40647200-40649800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr15:40647200-40649800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:40647200-40649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:40647200-40649800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:40647200-40649800	Genic enhancers	Fetal Intestine Small	intestine
26	chr15:40647200-40649800	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:40647200-40649800	Weak transcription	Fetal Stomach	stomach
28	chr15:40647200-40649800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr15:40647200-40649800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:40647200-40649800	Weak transcription	NH-A	brain
31	chr15:40647200-40650000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:40647400-40649800	Weak transcription	Brain Angular Gyrus	brain
33	chr15:40647400-40650000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:40647400-40650000	Weak transcription	Brain Substantia Nigra	brain
35	chr15:40647800-40649800	Weak transcription	NHDF-Ad	bronchial
36	chr15:40648200-40650000	Weak transcription	Left Ventricle	heart
37	chr15:40648800-40649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:40648800-40651400	Enhancers	Stomach Mucosa	stomach
39	chr15:40649000-40649800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:40649000-40649800	Enhancers	Colonic Mucosa	Colon
41	chr15:40649200-40650000	Enhancers	Fetal Brain Male	brain
42	chr15:40649200-40650000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr15:40649200-40651400	Active TSS	Rectal Smooth Muscle	rectum
44	chr15:40649400-40649800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
45	chr15:40649400-40649800	Enhancers	Duodenum Mucosa	Duodenum
46	chr15:40649400-40650000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:40649400-40650000	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr15:40649400-40650000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:40649400-40650000	Flanking Active TSS	Fetal Brain Female	brain
50	chr15:40649400-40650200	Flanking Active TSS	Brain Anterior Caudate	brain

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