Variant report

Variant	rs9614105
Chromosome Location	chr22:30303066-30303067
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
2	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
4	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:
5	chr22:30301235..30303561-chr22:30313115..30315333,2	MCF-7	breast:
6	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12373962	0.81[AMR][1000 genomes]
rs12484336	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12485243	0.85[AMR][1000 genomes]
rs16987156	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16988084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988135	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2097351	0.88[ASN][1000 genomes]
rs2097352	0.91[ASN][1000 genomes]
rs28428766	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28522206	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28595572	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3788421	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57462999	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57653653	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60665668	0.81[AMR][1000 genomes]
rs61352751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7284538	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7285751	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7285885	0.81[AMR][1000 genomes]
rs7286551	0.81[AMR][1000 genomes]
rs7290085	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7292732	0.90[AMR][1000 genomes]
rs73161050	0.85[AMR][1000 genomes]
rs73161074	0.87[AMR][1000 genomes]
rs73161099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162773	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73883345	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8138677	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139217	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8140366	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8140770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306466	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608822	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9608836	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9608843	0.85[AMR][1000 genomes]
rs9608845	0.85[AMR][1000 genomes]
rs9614063	0.85[AMR][1000 genomes]
rs9614071	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9614075	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614081	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9614083	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614087	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614101	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614108	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614109	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614110	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614111	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9614122	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9614124	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9614127	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9614128	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9614129	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9614131	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9614132	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9614143	0.81[AMR][1000 genomes]
rs9614144	0.81[AMR][1000 genomes]
rs9614145	0.81[AMR][1000 genomes]
rs9680595	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680809	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9614105	MTMR3	cis	Artery Tibial	GTEx
rs9614105	MTMR3	cis	lung	GTEx
rs9614105	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs9614105	MTMR3	cis	Nerve Tibial	GTEx
rs9614105	MTMR3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
4	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
10	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
11	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
12	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
15	chr22:30294800-30303400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:30294800-30303800	Weak transcription	Fetal Stomach	stomach
17	chr22:30295400-30303400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:30295800-30303200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:30296000-30303800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:30296600-30305600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:30297000-30303800	Weak transcription	Fetal Intestine Large	intestine
22	chr22:30297800-30303400	Weak transcription	Adipose Nuclei	Adipose
23	chr22:30298000-30303400	Weak transcription	Brain Substantia Nigra	brain
24	chr22:30298000-30303400	Weak transcription	Fetal Lung	lung
25	chr22:30298000-30303600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr22:30298000-30303600	Weak transcription	NHLF	lung
27	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr22:30298200-30303400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:30298200-30304000	Weak transcription	Primary hematopoietic stem cells	blood
30	chr22:30298800-30303800	Weak transcription	Primary B cells from cord blood	blood
31	chr22:30299000-30303400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:30299000-30303600	Weak transcription	Brain Germinal Matrix	brain
33	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr22:30299800-30308400	Weak transcription	Lung	lung
35	chr22:30300400-30307000	Weak transcription	Spleen	Spleen
36	chr22:30300600-30303400	Weak transcription	Brain Anterior Caudate	brain
37	chr22:30300600-30303400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr22:30300600-30303400	Weak transcription	K562	blood
39	chr22:30300600-30304000	Weak transcription	Right Atrium	heart
40	chr22:30300800-30303400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr22:30300800-30303600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr22:30301000-30303200	Weak transcription	Ovary	ovary
43	chr22:30301000-30303800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr22:30301400-30303400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:30301400-30303800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr22:30301400-30308000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr22:30301600-30303400	Weak transcription	Stomach Mucosa	stomach
48	chr22:30302000-30303400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr22:30302000-30303400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:30302000-30303800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links