Variant report

Variant	rs6453497
Chromosome Location	chr5:79280437-79280438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10035728	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041212	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10041404	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10043116	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10060444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10062607	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10064975	0.95[CEU][hapmap]
rs10065778	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10066471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10071601	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10077238	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1017996	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1017997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1017998	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1032341	0.80[EUR][1000 genomes]
rs1032342	0.95[JPT][hapmap]
rs11741143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11748289	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13354864	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1370987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1438739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16877389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291524	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2404708	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2451929	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2451930	0.83[EUR][1000 genomes]
rs2471104	1.00[JPT][hapmap]
rs2471105	0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs2471107	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2471108	0.83[EUR][1000 genomes]
rs2471109	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs405878	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs422690	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6453494	0.92[EUR][1000 genomes]
rs6453495	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6453496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6860568	0.84[EUR][1000 genomes]
rs6865678	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6868916	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6870377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6873684	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6882768	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6887873	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6892826	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7446065	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7707036	0.87[ASN][1000 genomes]
rs7734858	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs923634	0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs923636	0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9293795	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs963423	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs963424	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021113	chr5:79034662-79289828	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6453497	MTX3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79260600-79286200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:79269000-79286400	Weak transcription	Thymus	Thymus
3	chr5:79269800-79281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:79269800-79286000	Weak transcription	Fetal Heart	heart
5	chr5:79270000-79286000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:79270200-79286400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:79270800-79284800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:79271000-79286400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:79271200-79281000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:79271200-79282000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:79271200-79285200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:79271200-79285800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:79271200-79285800	Weak transcription	NHLF	lung
14	chr5:79271400-79284000	Weak transcription	HSMMtube	muscle
15	chr5:79271400-79285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:79271400-79286000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:79271400-79286000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:79271600-79280800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:79271600-79286000	Weak transcription	HUVEC	blood vessel
20	chr5:79272200-79286400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:79272400-79285000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:79272400-79286400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:79272400-79286400	Weak transcription	Pancreas	Pancrea
24	chr5:79272600-79284800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:79272600-79285000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:79272600-79285000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:79272600-79285200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:79272600-79286000	Weak transcription	Small Intestine	intestine
29	chr5:79272600-79286400	Weak transcription	Gastric	stomach
30	chr5:79272800-79285000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:79272800-79285400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:79273000-79284600	Strong transcription	Fetal Intestine Large	intestine
33	chr5:79273000-79284800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:79273000-79284800	Strong transcription	Adipose Nuclei	Adipose
35	chr5:79273400-79286000	Weak transcription	Aorta	Aorta
36	chr5:79273600-79284600	Strong transcription	Placenta	Placenta
37	chr5:79274000-79286400	Weak transcription	Esophagus	oesophagus
38	chr5:79274200-79281200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:79274200-79286200	Weak transcription	Colonic Mucosa	Colon
40	chr5:79274400-79286000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:79274600-79281000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:79275000-79285000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr5:79275200-79284800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:79275800-79284800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:79276000-79280800	Strong transcription	Colon Smooth Muscle	Colon
46	chr5:79276000-79284400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr5:79276000-79284600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:79276000-79285000	Strong transcription	NHDF-Ad	bronchial
49	chr5:79276000-79285400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:79276600-79284400	Strong transcription	Duodenum Mucosa	Duodenum

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