Variant report

Variant	rs7290175
Chromosome Location	chr22:30598097-30598098
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30590030..30593992-chr22:30596510..30599068,3	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11552852	0.84[EUR][1000 genomes]
rs13055101	0.82[EUR][1000 genomes]
rs16988244	1.00[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988291	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988303	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988304	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16988333	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17648208	0.91[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2412980	1.00[ASW][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2412981	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41278853	0.89[EUR][1000 genomes]
rs41281623	0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4482600	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482601	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45629133	0.82[EUR][1000 genomes]
rs4823078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56392746	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5753038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753042	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5753043	0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5763855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763870	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763873	0.94[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5763878	0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997597	0.85[MEX][hapmap];0.83[TSI][hapmap]
rs6006383	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6518681	1.00[EUR][1000 genomes]
rs6519802	1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs6519805	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs713916	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7285585	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs737901	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883354	0.80[EUR][1000 genomes]
rs73883355	0.80[EUR][1000 genomes]
rs73883359	0.84[EUR][1000 genomes]
rs73883360	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73883375	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883377	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883378	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs962322	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[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	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	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3441265	chr22:30597552-30601950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7290175	MTMR3	cis	multi-tissue	Pritchard

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30592000-30601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr22:30592600-30598200	Weak transcription	Esophagus	oesophagus
3	chr22:30592800-30602800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30592800-30604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:30593200-30598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:30593200-30598600	Weak transcription	Lung	lung
7	chr22:30593200-30600600	Weak transcription	Spleen	Spleen
8	chr22:30593400-30598200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:30593400-30598600	Weak transcription	Placenta	Placenta
10	chr22:30593600-30598200	Weak transcription	HSMMtube	muscle
11	chr22:30593600-30598400	Weak transcription	Fetal Intestine Large	intestine
12	chr22:30593600-30598600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr22:30593600-30600800	Weak transcription	Small Intestine	intestine
14	chr22:30593600-30603000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:30593800-30600400	Weak transcription	Osteobl	bone
16	chr22:30594400-30598600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:30595000-30600400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:30595200-30598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30595400-30598200	Weak transcription	Fetal Thymus	thymus
20	chr22:30595600-30600800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr22:30597000-30598200	Weak transcription	Pancreas	Pancrea
22	chr22:30597000-30598400	Enhancers	Hela-S3	cervix
23	chr22:30597400-30598600	Weak transcription	A549	lung
24	chr22:30597600-30603000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:30597600-30609800	Enhancers	Stomach Mucosa	stomach
26	chr22:30597600-30610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:30597800-30598200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:30597800-30598600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:30597800-30598600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr22:30597800-30599000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr22:30597800-30599000	Enhancers	Fetal Kidney	kidney
32	chr22:30597800-30599000	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr22:30597800-30599000	ZNF genes & repeats	NHEK	skin
34	chr22:30597800-30599200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:30597800-30599200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:30597800-30599200	Enhancers	Fetal Stomach	stomach
37	chr22:30597800-30599600	Enhancers	Fetal Lung	lung
38	chr22:30597800-30601200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:30597800-30601200	Enhancers	HSMM	muscle
40	chr22:30597800-30601200	Enhancers	NHDF-Ad	bronchial
41	chr22:30597800-30602400	Enhancers	Duodenum Mucosa	Duodenum
42	chr22:30598000-30598200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr22:30598000-30598200	Weak transcription	NH-A	brain
44	chr22:30598000-30598400	Enhancers	Gastric	stomach
45	chr22:30598000-30599000	Enhancers	Ovary	ovary
46	chr22:30598000-30599200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:30598000-30599200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr22:30598000-30599600	Enhancers	Rectal Mucosa Donor 31	rectum

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