Variant report

Variant	rs131267
Chromosome Location	chr22:30147861-30147862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs105311	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131260	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs131261	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131263	0.92[ASN][1000 genomes]
rs131264	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131265	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131266	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131268	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs131270	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131271	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131272	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131273	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131274	0.90[ASN][1000 genomes]
rs131275	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs131277	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131279	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131281	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131282	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131284	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131285	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131286	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131287	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131298	0.86[EUR][1000 genomes]
rs140095	0.90[ASN][1000 genomes]
rs140096	0.89[ASN][1000 genomes]
rs140097	0.90[ASN][1000 genomes]
rs140099	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs140100	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs140101	0.94[ASN][1000 genomes]
rs140102	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140103	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs140104	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140106	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140107	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140110	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140111	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs140113	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140114	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140117	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs140118	0.85[ASN][1000 genomes]
rs140119	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140120	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140121	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140122	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140123	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140124	0.94[ASN][1000 genomes]
rs140126	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140127	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140128	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140129	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140131	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140133	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs140134	0.89[EUR][1000 genomes]
rs140139	0.89[EUR][1000 genomes]
rs140140	0.83[EUR][1000 genomes]
rs249396	0.84[EUR][1000 genomes]
rs249397	0.84[EUR][1000 genomes]
rs249401	0.82[EUR][1000 genomes]
rs36572	0.84[EUR][1000 genomes]
rs5752962	0.84[EUR][1000 genomes]
rs7954	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1065072	chr22:30102176-30155245	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs131267	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30130200-30150200	Weak transcription	A549	lung
2	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
4	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:30141200-30150800	Strong transcription	Fetal Brain Female	brain
9	chr22:30141600-30154200	Weak transcription	Osteobl	bone
10	chr22:30141800-30155400	Strong transcription	Fetal Stomach	stomach
11	chr22:30142000-30150000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr22:30143600-30154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr22:30144400-30148400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:30144400-30150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:30144400-30150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
18	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:30144600-30148000	Weak transcription	Spleen	Spleen
20	chr22:30144600-30148600	Weak transcription	Fetal Intestine Large	intestine
21	chr22:30144600-30149800	Weak transcription	Thymus	Thymus
22	chr22:30144600-30150000	Weak transcription	Brain Angular Gyrus	brain
23	chr22:30144600-30160000	Weak transcription	Dnd41	blood
24	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:30144800-30148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr22:30144800-30149400	Weak transcription	Fetal Lung	lung
30	chr22:30144800-30149800	Weak transcription	Brain Hippocampus Middle	brain
31	chr22:30144800-30150000	Weak transcription	HSMM	muscle
32	chr22:30144800-30155000	Weak transcription	Ovary	ovary
33	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:30145000-30150200	Weak transcription	HSMMtube	muscle
37	chr22:30145200-30154000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:30145400-30154200	Weak transcription	NHDF-Ad	bronchial
39	chr22:30145600-30149800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:30146000-30150800	Strong transcription	Primary T cells from cord blood	blood
41	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:30146200-30148200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:30146400-30148000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr22:30146400-30148000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr22:30146400-30148200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr22:30146400-30148200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr22:30146400-30148200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:30146400-30155000	Weak transcription	Brain Substantia Nigra	brain
49	chr22:30146600-30148200	Weak transcription	Lung	lung
50	chr22:30146600-30148400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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