Variant report

Variant	rs36608
Chromosome Location	chr22:30342191-30342192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1071962	1.00[YRI][hapmap]
rs11549795	1.00[TSI][hapmap]
rs11552852	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1544429	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1544430	0.87[EUR][1000 genomes]
rs1544431	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544433	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988120	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988143	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988148	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988149	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16988244	1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs16988291	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16988303	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16988304	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs16988333	0.84[EUR][1000 genomes]
rs17648208	0.84[EUR][1000 genomes]
rs1807726	0.84[EUR][1000 genomes]
rs2105871	0.87[EUR][1000 genomes]
rs2107674	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2349228	0.85[EUR][1000 genomes]
rs249403	1.00[TSI][hapmap]
rs36571	1.00[YRI][hapmap]
rs36577	1.00[TSI][hapmap]
rs36579	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36588	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36589	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36592	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36593	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36597	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36599	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36602	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36603	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39713	0.91[EUR][1000 genomes]
rs41278853	0.86[EUR][1000 genomes]
rs41281623	0.84[EUR][1000 genomes]
rs41281633	0.84[EUR][1000 genomes]
rs45629133	0.89[EUR][1000 genomes]
rs4820823	1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs55645000	0.93[EUR][1000 genomes]
rs56392746	0.84[EUR][1000 genomes]
rs56406718	0.84[EUR][1000 genomes]
rs57348516	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5752974	0.89[EUR][1000 genomes]
rs5752977	0.89[EUR][1000 genomes]
rs5752979	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763560	0.89[EUR][1000 genomes]
rs5763568	0.89[EUR][1000 genomes]
rs5763582	0.87[EUR][1000 genomes]
rs5763595	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58162368	0.84[EUR][1000 genomes]
rs5997539	0.89[EUR][1000 genomes]
rs6006276	0.89[EUR][1000 genomes]
rs60759987	0.84[EUR][1000 genomes]
rs6519802	1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs6519805	0.84[EUR][1000 genomes]
rs7284365	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7284951	0.93[EUR][1000 genomes]
rs7286205	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs7286441	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7287233	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs737901	0.82[EUR][1000 genomes]
rs737938	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883344	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883349	0.88[EUR][1000 genomes]
rs73883354	0.86[EUR][1000 genomes]
rs73883355	0.86[EUR][1000 genomes]
rs73883359	0.82[EUR][1000 genomes]
rs73883360	0.84[EUR][1000 genomes]
rs73883363	0.84[EUR][1000 genomes]
rs73883367	0.84[EUR][1000 genomes]
rs73883370	0.84[EUR][1000 genomes]
rs73883374	0.84[EUR][1000 genomes]
rs73883375	0.82[EUR][1000 genomes]
rs73883377	0.82[EUR][1000 genomes]
rs73883378	0.82[EUR][1000 genomes]
rs8141471	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	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
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36608	MTMR3	cis	multi-tissue	Pritchard

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30311600-30343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr22:30313000-30343800	Weak transcription	Fetal Stomach	stomach
3	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
4	chr22:30327600-30342200	Weak transcription	Brain Angular Gyrus	brain
5	chr22:30328400-30343600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:30328400-30351800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr22:30330600-30342200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:30332000-30342200	Weak transcription	Gastric	stomach
9	chr22:30332600-30345000	Weak transcription	Pancreas	Pancrea
10	chr22:30332600-30347400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:30332800-30343800	Weak transcription	Adipose Nuclei	Adipose
12	chr22:30333600-30343600	Weak transcription	Brain Anterior Caudate	brain
13	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
14	chr22:30339000-30343000	Weak transcription	Brain Germinal Matrix	brain
15	chr22:30339800-30342600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr22:30339800-30343200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr22:30340000-30342600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr22:30340000-30342600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr22:30340000-30344000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr22:30340000-30344800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:30340000-30345000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr22:30340000-30345000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr22:30340000-30346800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr22:30340200-30342200	Weak transcription	Spleen	Spleen
25	chr22:30340200-30342600	Enhancers	K562	blood
26	chr22:30340200-30343200	Weak transcription	NHLF	lung
27	chr22:30340200-30344200	Weak transcription	Right Ventricle	heart
28	chr22:30340200-30351000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
30	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
31	chr22:30340400-30343000	Enhancers	Colon Smooth Muscle	Colon
32	chr22:30340600-30342400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:30340600-30347400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr22:30340600-30347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:30340600-30347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr22:30340800-30342200	Weak transcription	Fetal Lung	lung
40	chr22:30340800-30342600	Enhancers	Ovary	ovary
41	chr22:30340800-30342800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr22:30340800-30343000	Weak transcription	Osteobl	bone
43	chr22:30340800-30343200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:30340800-30343400	Weak transcription	A549	lung
45	chr22:30340800-30343600	Weak transcription	HSMM	muscle
46	chr22:30340800-30343600	Weak transcription	HUVEC	blood vessel
47	chr22:30340800-30343800	Weak transcription	HMEC	breast
48	chr22:30340800-30350400	Weak transcription	Stomach Mucosa	stomach
49	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:30341000-30342600	Enhancers	Psoas Muscle	Psoas

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