Variant report

Variant	rs8140770
Chromosome Location	chr22:30290443-30290444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:
2	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:
3	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs12373962	0.81[AMR][1000 genomes]
rs12484336	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12485243	1.00[CEU][hapmap];0.88[GIH][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes]
rs16987156	0.82[ASW][hapmap];0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16988084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2097351	0.88[ASN][1000 genomes]
rs2097352	0.91[ASN][1000 genomes]
rs28428766	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28522206	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28595572	0.98[AMR][1000 genomes];0.96[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];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60665668	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61352751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7284538	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.85[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];0.81[EUR][1000 genomes]
rs73161074	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73161099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162773	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73883345	0.86[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	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8140366	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306466	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608822	1.00[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];0.96[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];0.81[EUR][1000 genomes]
rs9614071	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9614075	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614081	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9614083	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9614087	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9614089	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614101	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614108	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614109	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614110	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9614111	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9614122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];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	0.85[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	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9680809	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
4	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
5	esv1851082	chr22:30253256-30294744	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1833221	chr22:30274129-30297376	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv829161	chr22:30276811-30298332	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv829162	chr22:30276811-30298761	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv11554	chr22:30280400-30298271	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv1825528	chr22:30282800-30295577	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8140770	MTMR3	cis	parietal	SCAN
rs8140770	MTMR3	cis	Thyroid	GTEx
rs8140770	MTMR3	cis	Artery Tibial	GTEx
rs8140770	INPP5J	cis	cerebellum	SCAN
rs8140770	MTMR3	Cis_1M	lymphoblastoid	RTeQTL
rs8140770	MTMR3	cis	lung	GTEx
rs8140770	MTMR3	cis	Nerve Tibial	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
3	chr22:30280400-30297400	Weak transcription	K562	blood
4	chr22:30280800-30291600	Weak transcription	Lung	lung
5	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
10	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
11	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
17	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:30283800-30292600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr22:30283800-30294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:30283800-30294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:30283800-30295600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr22:30283800-30297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
25	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
26	chr22:30284000-30297200	Weak transcription	Primary B cells from cord blood	blood
27	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
29	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
30	chr22:30287000-30294600	Weak transcription	Gastric	stomach
31	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr22:30287600-30293200	Weak transcription	Ovary	ovary
34	chr22:30287600-30294000	Weak transcription	Right Ventricle	heart
35	chr22:30287800-30291000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:30287800-30297400	Weak transcription	Adipose Nuclei	Adipose
37	chr22:30288000-30294000	Weak transcription	Right Atrium	heart
38	chr22:30288000-30294400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr22:30288200-30291800	Weak transcription	Psoas Muscle	Psoas
40	chr22:30288600-30294000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr22:30288800-30290600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr22:30289200-30294600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:30289200-30295800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr22:30289600-30292400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr22:30290000-30290800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr22:30290000-30290800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr22:30290200-30290800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:30290200-30290800	Enhancers	Fetal Brain Male	brain
49	chr22:30290200-30291000	Enhancers	Fetal Heart	heart
50	chr22:30290400-30291000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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