Variant report

Variant	rs36572
Chromosome Location	chr22:30200936-30200937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30199847..30201842-chr22:30205900..30208227,2	MCF-7	breast:
2	chr22:30200496..30202537-chr22:30212324..30214845,2	MCF-7	breast:
3	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
4	chr22:30198973..30201297-chr22:30207957..30210741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs131267	0.84[EUR][1000 genomes]
rs131268	0.83[EUR][1000 genomes]
rs131284	0.86[EUR][1000 genomes]
rs131287	0.86[EUR][1000 genomes]
rs131298	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131301	0.81[EUR][1000 genomes]
rs140114	0.82[EUR][1000 genomes]
rs140117	0.84[EUR][1000 genomes]
rs140119	0.84[EUR][1000 genomes]
rs140122	0.83[EUR][1000 genomes]
rs140126	0.86[EUR][1000 genomes]
rs140127	0.84[EUR][1000 genomes]
rs140128	0.86[EUR][1000 genomes]
rs140134	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs140139	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs140140	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1961926	0.90[AMR][1000 genomes]
rs249396	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs249397	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249398	0.81[EUR][1000 genomes]
rs249401	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36576	0.81[EUR][1000 genomes]
rs5752961	0.81[EUR][1000 genomes]
rs5752962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5997534	0.95[ASN][1000 genomes]
rs6006267	0.95[ASN][1000 genomes]
rs737945	0.99[ASN][1000 genomes]
rs7954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs81800	0.81[EUR][1000 genomes]
rs9608816	0.87[ASN][1000 genomes]
rs9614055	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36572	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
6	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
7	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
8	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr22:30183400-30204800	Strong transcription	Brain Germinal Matrix	brain
11	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr22:30183800-30204800	Strong transcription	Ovary	ovary
14	chr22:30183800-30205000	Strong transcription	Fetal Intestine Large	intestine
15	chr22:30183800-30205200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr22:30184000-30204800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:30189600-30201000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr22:30189600-30201800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30189800-30201800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
25	chr22:30194200-30212200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:30195200-30204600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:30195200-30204600	Strong transcription	Brain Anterior Caudate	brain
28	chr22:30195200-30204800	Strong transcription	Rectal Smooth Muscle	rectum
29	chr22:30195200-30205000	Strong transcription	Brain Cingulate Gyrus	brain
30	chr22:30195400-30203600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr22:30195400-30205400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr22:30195600-30204600	Strong transcription	GM12878-XiMat	blood
35	chr22:30195600-30205000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:30195600-30208200	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:30195800-30201600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr22:30195800-30204600	Strong transcription	Primary B cells from cord blood	blood
39	chr22:30195800-30204600	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr22:30195800-30204800	Strong transcription	Brain Angular Gyrus	brain
41	chr22:30195800-30204800	Strong transcription	Colonic Mucosa	Colon
42	chr22:30195800-30205000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr22:30196000-30205000	Strong transcription	Aorta	Aorta
44	chr22:30196000-30205000	Strong transcription	Brain Hippocampus Middle	brain
45	chr22:30196000-30212000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:30196000-30217000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr22:30196200-30202400	Strong transcription	Fetal Brain Male	brain
48	chr22:30196200-30204400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:30196200-30204600	Strong transcription	Brain Substantia Nigra	brain
50	chr22:30196200-30204800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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