Variant report

Variant	rs8140366
Chromosome Location	chr22:30237584-30237585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30211412..30212970-chr22:30236507..30238739,2	K562	blood:
2	chr22:30233635..30235405-chr22:30235774..30238672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12484336	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12485243	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16987156	0.88[AMR][1000 genomes]
rs16988084	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16988135	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2097351	0.90[ASN][1000 genomes]
rs2097352	0.93[ASN][1000 genomes]
rs28428766	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28522206	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28595572	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3788421	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57462999	0.90[AMR][1000 genomes]
rs57653653	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60665668	0.85[EUR][1000 genomes]
rs61352751	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7284538	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7285751	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7285885	0.83[EUR][1000 genomes]
rs7290085	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73161050	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73161074	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73161099	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73162731	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73162773	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73883345	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8138677	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8139217	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8140770	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306466	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9608822	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608823	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608836	0.90[AMR][1000 genomes]
rs9614063	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614071	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9614075	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9614081	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9614083	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614087	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9614089	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614097	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614101	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614105	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614108	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614109	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614110	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9614111	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9614122	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9614124	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9614127	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9614128	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614129	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9614131	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614132	0.87[AMR][1000 genomes]
rs9680595	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9680809	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9983	0.87[AMR][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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8140366	MTMR3	cis	Nerve Tibial	GTEx
rs8140366	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs8140366	MTMR3	cis	Artery Tibial	GTEx
rs8140366	MTMR3	cis	lung	GTEx
rs8140366	MTMR3	cis	Thyroid	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30234800-30238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr22:30234800-30238200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:30234800-30238200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:30234800-30238200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr22:30234800-30238400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr22:30234800-30238400	Weak transcription	HSMMtube	muscle
7	chr22:30234800-30238400	Weak transcription	NH-A	brain
8	chr22:30234800-30239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30235000-30237800	Weak transcription	NHEK	skin
10	chr22:30235000-30238200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:30235000-30238200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:30235000-30238200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:30235000-30238200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:30235000-30238200	Weak transcription	Stomach Mucosa	stomach
15	chr22:30235000-30238200	Weak transcription	HSMM	muscle
16	chr22:30235000-30238200	Weak transcription	Osteobl	bone
17	chr22:30235000-30238400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr22:30235000-30238400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:30235000-30238400	Weak transcription	HUVEC	blood vessel
20	chr22:30235000-30238400	Weak transcription	NHLF	lung
21	chr22:30235000-30238600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr22:30235200-30237600	Weak transcription	NHDF-Ad	bronchial
23	chr22:30235200-30237800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:30235200-30237800	Weak transcription	A549	lung
25	chr22:30235200-30238200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:30235200-30238200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30235200-30238200	Weak transcription	Adipose Nuclei	Adipose
28	chr22:30235200-30238200	Weak transcription	HepG2	liver
29	chr22:30235200-30238400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:30235200-30238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:30235400-30238200	Weak transcription	Hela-S3	cervix
32	chr22:30235800-30238400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:30236800-30238000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:30236800-30238200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:30236800-30238200	Weak transcription	HMEC	breast
36	chr22:30237400-30237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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