Variant report

Variant	rs9614123
Chromosome Location	chr22:30371350-30371351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30366853..30371460-chr22:30371891..30375827,4	MCF-7	breast:
2	chr22:30365436..30368018-chr22:30369958..30371760,2	K562	blood:
3	chr22:30368906..30372309-chr22:30373836..30377442,4	K562	blood:
4	chr22:30369409..30372830-chr22:30374993..30377919,3	MCF-7	breast:
5	chr22:30368906..30371469-chr22:30373456..30376655,3	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10483156	1.00[JPT][hapmap]
rs11090592	1.00[JPT][hapmap]
rs11704655	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11705048	1.00[JPT][hapmap]
rs12165769	1.00[JPT][hapmap]
rs12166087	1.00[JPT][hapmap]
rs12169823	1.00[JPT][hapmap]
rs1544432	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17647135	1.00[JPT][hapmap]
rs3788418	1.00[JPT][hapmap]
rs3788425	1.00[JPT][hapmap]
rs7291756	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs737905	1.00[JPT][hapmap]
rs737906	1.00[JPT][hapmap]
rs737907	1.00[JPT][hapmap]
rs739615	1.00[JPT][hapmap]
rs916782	1.00[JPT][hapmap]
rs9620935	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9614123	MTMR3	cis	lung	GTEx
rs9614123	MTMR3	cis	Thyroid	GTEx
rs9614123	MTMR3	cis	Nerve Tibial	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
2	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
3	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
6	chr22:30344200-30375000	Weak transcription	HMEC	breast
7	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
8	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
9	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
11	chr22:30345400-30371600	Weak transcription	Lung	lung
12	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
13	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
14	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:30348400-30373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30350600-30375400	Weak transcription	GM12878-XiMat	blood
18	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
19	chr22:30351200-30385800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:30351200-30387400	Weak transcription	Ovary	ovary
21	chr22:30352600-30371600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr22:30352800-30373800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:30352800-30388600	Weak transcription	HepG2	liver
24	chr22:30353600-30375000	Weak transcription	Psoas Muscle	Psoas
25	chr22:30354600-30390200	Weak transcription	Colonic Mucosa	Colon
26	chr22:30354800-30390400	Weak transcription	Small Intestine	intestine
27	chr22:30355000-30374400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:30355200-30374000	Weak transcription	Placenta	Placenta
29	chr22:30356200-30376600	Weak transcription	Fetal Kidney	kidney
30	chr22:30358800-30374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:30358800-30387400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:30359000-30372800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:30359000-30374000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:30359000-30374000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30359000-30374800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:30359400-30373600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr22:30359400-30375600	Weak transcription	Fetal Lung	lung
38	chr22:30359800-30373800	Weak transcription	Fetal Stomach	stomach
39	chr22:30360600-30374800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:30360800-30373000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:30361400-30375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr22:30363200-30375600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr22:30363600-30375000	Weak transcription	Fetal Intestine Large	intestine
45	chr22:30364200-30374600	Weak transcription	Liver	Liver
46	chr22:30364200-30374800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr22:30364200-30374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:30365200-30374600	Weak transcription	NHEK	skin
49	chr22:30366000-30384200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr22:30366400-30387400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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