Variant report

Variant	rs1034779
Chromosome Location	chr22:30147210-30147211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30130941..30133818-chr22:30144985..30147499,2	MCF-7	breast:
2	chr22:30145045..30147687-chr22:30166151..30168873,2	MCF-7	breast:
3	chr22:30142692..30145269-chr22:30145289..30147345,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11090577	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12483807	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12485243	0.87[EUR][1000 genomes]
rs60665668	0.85[EUR][1000 genomes]
rs7285885	0.87[EUR][1000 genomes]
rs73161050	0.85[EUR][1000 genomes]
rs73161074	0.83[EUR][1000 genomes]
rs9614046	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9614063	0.85[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1034779	MTMR3	cis	Nerve Tibial	GTEx
rs1034779	MTMR3	cis	lung	GTEx
rs1034779	MTMR3	cis	Thyroid	GTEx

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30130200-30150200	Weak transcription	A549	lung
2	chr22:30130400-30150600	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30130600-30149800	Weak transcription	Psoas Muscle	Psoas
4	chr22:30131400-30148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30134400-30158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:30136000-30154800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr22:30141200-30150800	Strong transcription	Fetal Brain Female	brain
9	chr22:30141600-30154200	Weak transcription	Osteobl	bone
10	chr22:30141800-30155400	Strong transcription	Fetal Stomach	stomach
11	chr22:30142000-30150000	Strong transcription	Fetal Muscle Trunk	muscle
12	chr22:30142600-30147400	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:30143600-30154200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:30144000-30147800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr22:30144400-30148400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:30144400-30150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:30144400-30150000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
20	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:30144600-30148000	Weak transcription	Spleen	Spleen
22	chr22:30144600-30148600	Weak transcription	Fetal Intestine Large	intestine
23	chr22:30144600-30149800	Weak transcription	Thymus	Thymus
24	chr22:30144600-30150000	Weak transcription	Brain Angular Gyrus	brain
25	chr22:30144600-30160000	Weak transcription	Dnd41	blood
26	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:30144800-30148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:30144800-30149400	Weak transcription	Fetal Lung	lung
32	chr22:30144800-30149800	Weak transcription	Brain Hippocampus Middle	brain
33	chr22:30144800-30150000	Weak transcription	HSMM	muscle
34	chr22:30144800-30155000	Weak transcription	Ovary	ovary
35	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:30145000-30150200	Weak transcription	HSMMtube	muscle
39	chr22:30145200-30154000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:30145400-30154200	Weak transcription	NHDF-Ad	bronchial
41	chr22:30145600-30149800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:30146000-30147400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:30146000-30150800	Strong transcription	Primary T cells from cord blood	blood
44	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:30146200-30147400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30146200-30148200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:30146400-30147400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr22:30146400-30147600	Genic enhancers	Primary B cells from cord blood	blood
49	chr22:30146400-30147600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
50	chr22:30146400-30148000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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