Variant report

Variant	rs1791403
Chromosome Location	chr18:43715506-43715507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11082512	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11082518	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12605945	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12607898	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12954742	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs12959827	0.84[ASN][1000 genomes]
rs12962307	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12967694	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12969147	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs1658908	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs1791407	0.83[CHB][hapmap]
rs1791413	0.83[CHB][hapmap]
rs1791414	0.83[CHB][hapmap]
rs1866321	0.83[CHB][hapmap];0.80[JPT][hapmap];0.82[YRI][hapmap]
rs3744858	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs3753069	0.86[JPT][hapmap]
rs4274509	0.83[CHB][hapmap]
rs4453596	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4542747	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4890312	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs4890317	0.81[TSI][hapmap]
rs4890628	0.86[CHB][hapmap]
rs4890629	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs4890632	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs62096524	0.82[ASN][1000 genomes]
rs6507670	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs718513	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7228642	0.81[ASN][1000 genomes]
rs7231820	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7234695	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs7236687	0.80[ASN][1000 genomes]
rs7239351	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7241527	0.85[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap]
rs7241829	0.80[EUR][1000 genomes]
rs7242375	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs7242845	0.84[ASN][1000 genomes]
rs7244632	0.85[ASN][1000 genomes]
rs7245091	0.91[CHB][hapmap];0.84[GIH][hapmap];0.83[JPT][hapmap]
rs8084309	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs8086956	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs8094706	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9807157	0.81[TSI][hapmap]
rs9944715	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9944836	0.83[TSI][hapmap]
rs9945783	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9949494	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9950234	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9952469	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs9954577	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9955008	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9959813	0.81[TSI][hapmap]
rs9963153	0.81[TSI][hapmap]
rs9963843	0.83[CHB][hapmap]
rs9965812	0.83[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.90[YRI][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1791403	TNNT1	trans	parietal	SCAN
rs1791403	C18orf25	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43685200-43735600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:43685400-43717200	Weak transcription	HepG2	liver
3	chr18:43685400-43729000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:43685400-43732200	Weak transcription	Fetal Kidney	kidney
5	chr18:43690000-43715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr18:43694200-43715600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:43694600-43717400	Weak transcription	Brain Anterior Caudate	brain
8	chr18:43706200-43747800	Weak transcription	Brain Substantia Nigra	brain
9	chr18:43707600-43735800	Weak transcription	Primary B cells from cord blood	blood
10	chr18:43708600-43723400	Weak transcription	Fetal Lung	lung
11	chr18:43710000-43723600	Weak transcription	HSMM	muscle
12	chr18:43710000-43732000	Weak transcription	Right Ventricle	heart
13	chr18:43710200-43727800	Weak transcription	Fetal Intestine Large	intestine
14	chr18:43710200-43728800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr18:43710400-43715600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:43710400-43716000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:43710400-43717000	Weak transcription	Esophagus	oesophagus
18	chr18:43710400-43717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr18:43710400-43718800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr18:43710400-43722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:43710400-43722800	Weak transcription	Aorta	Aorta
22	chr18:43710400-43732400	Weak transcription	Lung	lung
23	chr18:43710400-43733000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:43710600-43717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:43710600-43752800	Weak transcription	Fetal Brain Female	brain
26	chr18:43710800-43732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr18:43711000-43716000	Weak transcription	Adipose Nuclei	Adipose
28	chr18:43711000-43717000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:43711000-43717400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:43711000-43719800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr18:43711000-43728600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr18:43711000-43735600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr18:43711200-43719000	Weak transcription	Dnd41	blood
34	chr18:43711200-43732000	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:43711600-43716000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr18:43712200-43717000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:43712200-43717400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:43712200-43720200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:43712200-43721400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr18:43712200-43732000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr18:43712400-43721200	Weak transcription	Fetal Stomach	stomach
42	chr18:43712400-43723200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr18:43712400-43739200	Weak transcription	Fetal Intestine Small	intestine
44	chr18:43714000-43716000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:43714000-43725400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:43714000-43728600	Weak transcription	Primary T cells from cord blood	blood
47	chr18:43714000-43748400	Weak transcription	Ovary	ovary
48	chr18:43714800-43715600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr18:43714800-43715600	Enhancers	HSMMtube	muscle
50	chr18:43714800-43715800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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