Variant report

Variant	rs4717347
Chromosome Location	chr7:66543959-66543960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10236844	0.80[AFR][1000 genomes]
rs10282273	0.89[ASN][1000 genomes]
rs10950060	0.99[ASN][1000 genomes]
rs11760318	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12531934	0.81[ASN][1000 genomes]
rs12537557	0.96[ASN][1000 genomes]
rs2421287	0.87[ASN][1000 genomes]
rs34512474	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35644973	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3962073	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4718452	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	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs60356903	0.93[ASN][1000 genomes]
rs7801361	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7809810	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4717347	TYW1	cis	Esophagus Mucosa	GTEx
rs4717347	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs4717347	TYW1	cis	Nerve Tibial	GTEx
rs4717347	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

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	chr7:66502400-66549600	Weak transcription	Brain Hippocampus Middle	brain
7	chr7:66508800-66590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:66516400-66551600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:66518400-66574200	Weak transcription	Small Intestine	intestine
10	chr7:66526400-66585600	Weak transcription	Brain Angular Gyrus	brain
11	chr7:66532400-66567400	Weak transcription	NHDF-Ad	bronchial
12	chr7:66532400-66587600	Weak transcription	Fetal Kidney	kidney
13	chr7:66532600-66582800	Weak transcription	HSMMtube	muscle
14	chr7:66532800-66570200	Weak transcription	Osteobl	bone
15	chr7:66533000-66554200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr7:66533800-66549000	Weak transcription	HSMM	muscle
17	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:66534000-66544200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:66534000-66575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr7:66534600-66566000	Weak transcription	K562	blood
21	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
22	chr7:66538200-66555000	Weak transcription	Primary B cells from cord blood	blood
23	chr7:66538400-66549400	Weak transcription	Esophagus	oesophagus
24	chr7:66538400-66549400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr7:66538400-66569800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr7:66538400-66593600	Weak transcription	Fetal Thymus	thymus
27	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
29	chr7:66538600-66575200	Weak transcription	Fetal Lung	lung
30	chr7:66539000-66560000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:66540400-66582800	Weak transcription	Placenta	Placenta
32	chr7:66540600-66547600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr7:66540600-66572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:66540800-66549400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:66540800-66549600	Weak transcription	Ovary	ovary
36	chr7:66540800-66560000	Weak transcription	Thymus	Thymus
37	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:66541000-66549400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr7:66541200-66546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:66541200-66549400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:66541200-66570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:66541400-66546000	Weak transcription	Primary T cells from cord blood	blood
43	chr7:66541400-66549400	Weak transcription	Liver	Liver
44	chr7:66541400-66554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:66541400-66568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:66541600-66549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:66541600-66549600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:66541600-66560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:66541800-66549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:66542400-66544000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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