Variant report

Variant	rs4718452
Chromosome Location	chr7:66539842-66539843
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10236844	0.83[AFR][1000 genomes]
rs10240501	0.82[AFR][1000 genomes]
rs10271230	0.82[AFR][1000 genomes]
rs10273294	0.81[AFR][1000 genomes]
rs10274443	0.81[AFR][1000 genomes]
rs10282273	0.89[ASN][1000 genomes]
rs10950060	0.99[ASN][1000 genomes]
rs11760318	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11765422	0.81[AFR][1000 genomes]
rs11765443	0.81[AFR][1000 genomes]
rs12531934	0.81[ASN][1000 genomes]
rs12537557	0.96[ASN][1000 genomes]
rs13232027	0.81[AFR][1000 genomes]
rs13437823	0.81[AFR][1000 genomes]
rs13438033	0.81[AFR][1000 genomes]
rs17144722	0.82[AFR][1000 genomes]
rs2140565	0.81[AFR][1000 genomes]
rs2421287	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34512474	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35644973	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3962073	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4109495	0.81[AFR][1000 genomes]
rs4717347	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55958146	0.96[ASN][1000 genomes]
rs56243158	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs58440009	0.80[AFR][1000 genomes]
rs60356903	0.93[ASN][1000 genomes]
rs60666480	0.80[AFR][1000 genomes]
rs6954526	0.83[AFR][1000 genomes]
rs6959635	0.81[AFR][1000 genomes]
rs7801361	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7809810	0.80[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9654849	0.93[ASN][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4718452	TYW1	cis	Nerve Tibial	GTEx
rs4718452	TYW1	cis	Muscle Skeletal	GTEx
rs4718452	TYW1	cis	Esophagus Mucosa	GTEx
rs4718452	GS1-124K5.4	cis	Nerve Tibial	GTEx
rs4718452	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66483400-66551200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:66487000-66576600	Weak transcription	Gastric	stomach
3	chr7:66495200-66597200	Weak transcription	Right Ventricle	heart
4	chr7:66495600-66547400	Weak transcription	Pancreas	Pancrea
5	chr7:66498600-66549400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:66501000-66540000	Weak transcription	Psoas Muscle	Psoas
7	chr7:66502400-66549600	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:66508800-66590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:66512400-66540600	Weak transcription	HepG2	liver
10	chr7:66516400-66551600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:66516800-66540200	Weak transcription	Fetal Brain Female	brain
12	chr7:66518400-66574200	Weak transcription	Small Intestine	intestine
13	chr7:66519600-66543400	Weak transcription	Fetal Brain Male	brain
14	chr7:66523400-66541000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:66523600-66541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:66526400-66585600	Weak transcription	Brain Angular Gyrus	brain
17	chr7:66527000-66540600	Weak transcription	HUVEC	blood vessel
18	chr7:66529400-66542400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:66530000-66540800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:66532400-66567400	Weak transcription	NHDF-Ad	bronchial
21	chr7:66532400-66587600	Weak transcription	Fetal Kidney	kidney
22	chr7:66532600-66582800	Weak transcription	HSMMtube	muscle
23	chr7:66532800-66570200	Weak transcription	Osteobl	bone
24	chr7:66533000-66554200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:66533800-66543000	Weak transcription	Fetal Heart	heart
26	chr7:66533800-66543400	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:66533800-66549000	Weak transcription	HSMM	muscle
28	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:66534000-66544200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:66534000-66575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:66534600-66541400	Weak transcription	Spleen	Spleen
32	chr7:66534600-66566000	Weak transcription	K562	blood
33	chr7:66534800-66540400	Weak transcription	Aorta	Aorta
34	chr7:66534800-66541400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
36	chr7:66536800-66540000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr7:66537600-66540400	Strong transcription	Liver	Liver
38	chr7:66537600-66540400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:66537600-66540600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:66537600-66540600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:66537600-66541400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:66537600-66543400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr7:66537600-66543600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:66537800-66540200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:66538000-66541200	ZNF genes & repeats	Dnd41	blood
46	chr7:66538200-66555000	Weak transcription	Primary B cells from cord blood	blood
47	chr7:66538400-66540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:66538400-66540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:66538400-66540000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:66538400-66540000	Weak transcription	Placenta	Placenta

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