Variant report

Variant	rs73161050
Chromosome Location	chr22:30204790-30204791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30203989..30206698-chr22:30207811..30209768,4	MCF-7	breast:
2	chr22:30203954..30206021-chr22:30210250..30212247,2	MCF-7	breast:
3	chr22:30193309..30197041-chr22:30202385..30207780,5	MCF-7	breast:
4	chr22:30203646..30205505-chr22:30211553..30214467,2	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1034779	0.85[EUR][1000 genomes]
rs12483807	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12484336	0.81[AMR][1000 genomes]
rs12485243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16988084	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16988135	0.86[AMR][1000 genomes]
rs28428766	0.81[AMR][1000 genomes]
rs28522206	0.81[AMR][1000 genomes]
rs28595572	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3788421	0.81[AMR][1000 genomes]
rs57653653	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60665668	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61352751	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7284538	0.81[AMR][1000 genomes]
rs7285751	0.81[AMR][1000 genomes]
rs7285885	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7290085	0.81[AMR][1000 genomes]
rs73161074	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73161099	0.85[AMR][1000 genomes]
rs73162731	0.85[AMR][1000 genomes]
rs73162773	0.81[AMR][1000 genomes]
rs8138677	0.85[AMR][1000 genomes]
rs8140366	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8140770	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9306466	0.81[AMR][1000 genomes]
rs9608822	0.85[AMR][1000 genomes]
rs9608823	0.85[AMR][1000 genomes]
rs9608836	0.81[AMR][1000 genomes]
rs9614046	0.84[EUR][1000 genomes]
rs9614063	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614071	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9614075	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9614083	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9614087	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9614089	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9614097	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9614101	0.81[AMR][1000 genomes]
rs9614105	0.85[AMR][1000 genomes]
rs9614110	0.86[AMR][1000 genomes]
rs9614111	0.86[AMR][1000 genomes]
rs9614128	0.81[AMR][1000 genomes]
rs9614129	0.84[AMR][1000 genomes]
rs9680595	0.81[AMR][1000 genomes]
rs9680809	0.81[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73161050	MTMR3	cis	Nerve Tibial	GTEx
rs73161050	MTMR3	cis	Thyroid	GTEx
rs73161050	MTMR3	cis	Artery Tibial	GTEx
rs73161050	MTMR3	cis	lung	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
5	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
6	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
7	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
10	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr22:30183800-30204800	Strong transcription	Ovary	ovary
13	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
14	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
21	chr22:30194200-30212200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:30195200-30204800	Strong transcription	Rectal Smooth Muscle	rectum
23	chr22:30195200-30205000	Strong transcription	Brain Cingulate Gyrus	brain
24	chr22:30195400-30205400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr22:30195600-30205000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:30195600-30208200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:30195800-30204800	Strong transcription	Brain Angular Gyrus	brain
30	chr22:30195800-30204800	Strong transcription	Colonic Mucosa	Colon
31	chr22:30195800-30205000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr22:30196000-30205000	Strong transcription	Aorta	Aorta
33	chr22:30196000-30205000	Strong transcription	Brain Hippocampus Middle	brain
34	chr22:30196000-30212000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:30196000-30217000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr22:30196200-30204800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:30196200-30204800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:30196200-30204800	Strong transcription	Osteobl	bone
39	chr22:30196200-30205000	Strong transcription	Spleen	Spleen
40	chr22:30196200-30207000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:30196200-30211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr22:30196200-30215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:30196200-30217200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:30196200-30217200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:30196400-30211800	Strong transcription	Placenta	Placenta
48	chr22:30196400-30221200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:30197000-30206200	Strong transcription	Liver	Liver
50	chr22:30197000-30222200	Strong transcription	Dnd41	blood

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