Variant report

Variant	rs131287
Chromosome Location	chr22:30158463-30158464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr22:30158270-30158515	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30156668..30159502-chr22:30162718..30164375,2	K562	blood:

Variant related genes	Relation type
UQCR10	TF binding region
ENSG00000184076	Chromatin interaction
ENSG00000100319	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs105311	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs131260	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs131261	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs131263	0.87[ASN][1000 genomes]
rs131264	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs131265	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs131266	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs131267	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131268	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131270	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs131271	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131272	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131273	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131274	0.94[ASN][1000 genomes]
rs131275	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs131277	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131279	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131281	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131282	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131284	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs131285	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131286	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs131298	0.88[EUR][1000 genomes]
rs140095	0.85[ASN][1000 genomes]
rs140096	0.85[ASN][1000 genomes]
rs140097	0.85[ASN][1000 genomes]
rs140099	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs140100	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs140101	0.89[ASN][1000 genomes]
rs140102	0.89[ASN][1000 genomes]
rs140103	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs140104	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs140106	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs140107	0.88[ASN][1000 genomes]
rs140110	0.88[ASN][1000 genomes]
rs140111	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs140113	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs140114	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs140118	0.80[ASN][1000 genomes]
rs140119	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140120	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs140121	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs140122	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140123	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs140124	0.89[ASN][1000 genomes]
rs140126	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs140127	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs140128	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs140129	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs140130	0.83[EUR][1000 genomes]
rs140131	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs140133	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs140134	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs140139	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs140140	0.87[EUR][1000 genomes]
rs249396	0.86[EUR][1000 genomes]
rs249397	0.85[EUR][1000 genomes]
rs249401	0.83[EUR][1000 genomes]
rs36572	0.86[EUR][1000 genomes]
rs5752962	0.86[EUR][1000 genomes]
rs7954	0.86[EUR][1000 genomes]

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	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs131287	MTMR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
4	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30144600-30160000	Weak transcription	Dnd41	blood
6	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr22:30146600-30161800	Weak transcription	Brain Germinal Matrix	brain
15	chr22:30146800-30161800	Weak transcription	Brain Anterior Caudate	brain
16	chr22:30146800-30161800	Weak transcription	Right Ventricle	heart
17	chr22:30147000-30162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr22:30147000-30162200	Weak transcription	Gastric	stomach
19	chr22:30147400-30160200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:30147400-30160200	Weak transcription	HepG2	liver
21	chr22:30147400-30161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr22:30147600-30161800	Weak transcription	Primary B cells from cord blood	blood
23	chr22:30147600-30161800	Weak transcription	NHEK	skin
24	chr22:30147600-30162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:30147800-30160200	Weak transcription	Fetal Thymus	thymus
26	chr22:30147800-30160800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr22:30147800-30161800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr22:30148200-30160000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr22:30148200-30161600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr22:30148200-30162000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr22:30148400-30161800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:30149000-30161600	Weak transcription	Pancreas	Pancrea
33	chr22:30149200-30161800	Weak transcription	Fetal Intestine Large	intestine
34	chr22:30150400-30161400	Weak transcription	Thymus	Thymus
35	chr22:30150400-30161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:30150400-30161800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr22:30150400-30162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:30150600-30160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:30150600-30161800	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:30150600-30161800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr22:30150800-30161800	Weak transcription	Primary T cells from cord blood	blood
42	chr22:30150800-30161800	Weak transcription	Fetal Brain Female	brain
43	chr22:30150800-30161800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr22:30150800-30161800	Weak transcription	Spleen	Spleen
45	chr22:30150800-30162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr22:30150800-30162200	Weak transcription	HSMMtube	muscle
47	chr22:30151000-30159800	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:30151000-30162000	Weak transcription	HSMM	muscle
49	chr22:30152000-30162200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:30152400-30160800	Weak transcription	Fetal Muscle Leg	muscle

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