Variant report

Variant	rs140122
Chromosome Location	chr22:30138908-30138909
allele	C/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];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131260	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131261	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131263	0.93[ASN][1000 genomes]
rs131264	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131265	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131266	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131267	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131268	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131270	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131271	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131272	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131273	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131274	0.89[ASN][1000 genomes]
rs131275	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131277	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131279	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131281	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131282	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131284	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131285	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131286	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131287	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131298	0.85[EUR][1000 genomes]
rs140095	0.91[ASN][1000 genomes]
rs140096	0.90[ASN][1000 genomes]
rs140097	0.90[ASN][1000 genomes]
rs140099	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs140100	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs140101	0.94[ASN][1000 genomes]
rs140102	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140103	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs140104	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140106	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140107	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140110	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140111	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140113	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140114	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140117	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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];1.00[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];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140123	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140124	0.94[ASN][1000 genomes]
rs140126	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140127	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140128	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140129	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140131	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140133	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140134	0.88[EUR][1000 genomes]
rs140139	0.88[EUR][1000 genomes]
rs140140	0.82[EUR][1000 genomes]
rs249396	0.83[EUR][1000 genomes]
rs249397	0.83[EUR][1000 genomes]
rs249401	0.81[EUR][1000 genomes]
rs36572	0.83[EUR][1000 genomes]
rs5752962	0.83[EUR][1000 genomes]
rs7954	0.83[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
rs140122	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30123200-30142800	Weak transcription	Brain Substantia Nigra	brain
2	chr22:30123600-30146800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:30123600-30147000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:30125400-30146200	Weak transcription	NHLF	lung
5	chr22:30126000-30144600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:30126600-30145200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30127600-30140600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:30129000-30139200	Strong transcription	Stomach Smooth Muscle	stomach
9	chr22:30129400-30139000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr22:30129400-30144600	Strong transcription	Liver	Liver
11	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
12	chr22:30130000-30141000	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:30130200-30150200	Weak transcription	A549	lung
14	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
15	chr22:30130600-30140200	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
17	chr22:30130800-30139200	Weak transcription	NH-A	brain
18	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:30131200-30139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:30131600-30142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr22:30133000-30140000	Strong transcription	Fetal Brain Female	brain
27	chr22:30133200-30139000	Strong transcription	Lung	lung
28	chr22:30133200-30139200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:30133200-30144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:30133400-30140800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:30133400-30144600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr22:30133800-30139000	Strong transcription	Ovary	ovary
33	chr22:30134000-30139000	Strong transcription	Right Ventricle	heart
34	chr22:30134000-30144600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr22:30134200-30140800	Strong transcription	Adipose Nuclei	Adipose
36	chr22:30134200-30142600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr22:30134200-30144600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr22:30134400-30140600	Weak transcription	HSMMtube	muscle
39	chr22:30134400-30144800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:30134600-30140200	Strong transcription	Fetal Muscle Leg	muscle
42	chr22:30134600-30145200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:30134800-30142600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr22:30135000-30139600	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr22:30135200-30139200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:30135200-30139400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:30135400-30141200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr22:30135400-30142200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:30135600-30141600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:30136000-30141400	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links