Variant report

Variant	rs140119
Chromosome Location	chr22:30138149-30138150
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30136102..30138464-chr22:30143800..30146252,2	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs105311	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131260	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs131261	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs131262	0.96[CHB][hapmap];0.89[JPT][hapmap]
rs131263	0.93[ASN][1000 genomes]
rs131264	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131265	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131266	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131267	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131268	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs131270	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131271	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131272	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131273	0.85[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131274	0.89[ASN][1000 genomes]
rs131275	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs131277	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131279	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131281	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131282	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131285	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131286	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs131287	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131298	0.86[EUR][1000 genomes]
rs131301	0.84[CHB][hapmap]
rs140094	0.89[JPT][hapmap]
rs140095	0.91[ASN][1000 genomes]
rs140096	0.96[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs140097	0.92[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs140099	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs140100	0.96[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs140101	0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs140102	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140103	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs140104	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140106	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140107	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140110	0.82[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140111	0.86[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140113	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140117	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140118	0.96[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs140120	0.81[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140121	0.89[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140122	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs140123	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140124	0.96[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs140126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs140129	0.89[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140131	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs140133	0.89[CEU][hapmap];0.96[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs140134	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs140139	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs140140	0.82[EUR][1000 genomes]
rs140145	0.83[CHB][hapmap]
rs140149	0.83[CHB][hapmap]
rs1961926	0.82[CEU][hapmap]
rs2074706	0.84[CHB][hapmap]
rs2074707	0.84[CHB][hapmap]
rs249396	0.84[EUR][1000 genomes]
rs249397	0.83[EUR][1000 genomes]
rs249398	0.84[CHB][hapmap]
rs249401	0.81[EUR][1000 genomes]
rs36572	0.84[EUR][1000 genomes]
rs36576	0.83[CHB][hapmap]
rs5752961	0.84[CHB][hapmap]
rs5752962	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs5752964	0.83[CHB][hapmap]
rs5763512	0.84[CHB][hapmap]
rs5997530	0.84[CHB][hapmap]
rs713656	0.84[CHB][hapmap]
rs713657	0.84[CHB][hapmap]
rs740041	0.84[CHB][hapmap]
rs7954	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs81800	0.83[CHB][hapmap]
rs9306465	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	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
rs140119	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	chr22:30129800-30138600	Strong transcription	Left Ventricle	heart
12	chr22:30129800-30141000	Strong transcription	Fetal Stomach	stomach
13	chr22:30130000-30141000	Weak transcription	Colon Smooth Muscle	Colon
14	chr22:30130200-30150200	Weak transcription	A549	lung
15	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
16	chr22:30130600-30140200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
18	chr22:30130800-30138800	Strong transcription	Spleen	Spleen
19	chr22:30130800-30139200	Weak transcription	NH-A	brain
20	chr22:30131000-30138800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:30131000-30145800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr22:30131200-30139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:30131600-30142200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:30131600-30144800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:30131600-30145600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30131800-30138800	Strong transcription	Brain Germinal Matrix	brain
29	chr22:30131800-30138800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:30131800-30147200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr22:30132800-30138800	Strong transcription	Fetal Intestine Large	intestine
32	chr22:30133000-30140000	Strong transcription	Fetal Brain Female	brain
33	chr22:30133200-30139000	Strong transcription	Lung	lung
34	chr22:30133200-30139200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr22:30133200-30144600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:30133400-30138400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30133400-30138600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:30133400-30138600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:30133400-30138600	Strong transcription	Brain Hippocampus Middle	brain
40	chr22:30133400-30138800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:30133400-30138800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:30133400-30138800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30133400-30140800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:30133400-30144600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr22:30133600-30138800	Strong transcription	Aorta	Aorta
46	chr22:30133800-30138800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:30133800-30139000	Strong transcription	Ovary	ovary
48	chr22:30134000-30138200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:30134000-30138600	Strong transcription	Pancreas	Pancrea
50	chr22:30134000-30138800	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links