Variant report

Variant	rs59715913
Chromosome Location	chr7:66573857-66573858
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10224228	0.87[AFR][1000 genomes]
rs10230954	0.87[AFR][1000 genomes]
rs10234659	0.80[AFR][1000 genomes]
rs10236844	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10240501	0.86[AFR][1000 genomes]
rs10241334	0.82[AFR][1000 genomes]
rs10241454	0.81[AFR][1000 genomes]
rs10248168	0.81[AFR][1000 genomes]
rs10256861	0.81[AFR][1000 genomes]
rs10271230	0.86[AFR][1000 genomes]
rs10271388	0.81[AFR][1000 genomes]
rs10273294	0.87[AFR][1000 genomes]
rs10274048	0.82[AFR][1000 genomes]
rs10274443	0.85[AFR][1000 genomes]
rs11760968	0.84[AFR][1000 genomes]
rs11763486	0.81[AFR][1000 genomes]
rs11764514	0.87[AFR][1000 genomes]
rs11765279	0.80[AFR][1000 genomes]
rs11765283	0.80[AFR][1000 genomes]
rs11765422	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11765443	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11766490	0.88[AFR][1000 genomes]
rs11769645	0.83[EUR][1000 genomes]
rs11769928	0.88[AFR][1000 genomes]
rs11773128	0.87[AFR][1000 genomes]
rs13222146	0.88[AFR][1000 genomes]
rs13223029	0.86[AFR][1000 genomes]
rs13232027	0.86[AFR][1000 genomes]
rs13437823	0.85[AFR][1000 genomes]
rs13438033	0.85[AFR][1000 genomes]
rs17137288	0.85[AFR][1000 genomes]
rs17144722	0.84[AFR][1000 genomes]
rs2140565	0.87[AFR][1000 genomes]
rs2690147	0.82[AFR][1000 genomes]
rs2690151	0.83[AFR][1000 genomes]
rs2949148	0.87[AFR][1000 genomes]
rs2960961	0.87[AFR][1000 genomes]
rs34512474	0.81[AFR][1000 genomes]
rs3962073	0.87[AFR][1000 genomes]
rs4109495	0.86[AFR][1000 genomes]
rs55738075	0.84[AFR][1000 genomes]
rs55829112	0.80[AFR][1000 genomes]
rs55940282	0.81[AFR][1000 genomes]
rs56106251	0.82[AFR][1000 genomes]
rs56347390	0.88[AFR][1000 genomes]
rs57885730	0.87[AFR][1000 genomes]
rs58440009	0.82[AFR][1000 genomes]
rs58723885	0.80[AFR][1000 genomes]
rs60204091	0.88[AFR][1000 genomes]
rs6460321	0.82[AFR][1000 genomes]
rs6460322	0.88[AFR][1000 genomes]
rs6950170	0.88[AFR][1000 genomes]
rs6951192	0.87[AFR][1000 genomes]
rs6954526	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6959635	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6962222	0.82[AFR][1000 genomes]
rs71523750	0.81[AFR][1000 genomes]
rs71563164	0.81[AFR][1000 genomes]
rs7784267	0.81[AFR][1000 genomes]
rs7787691	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7794497	0.81[AFR][1000 genomes]
rs7801361	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv966838	chr7:66548076-66617503	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs59715913	TYW1	cis	Heart Left Ventricle	GTEx
rs59715913	TYW1	cis	Esophagus Mucosa	GTEx
rs59715913	TYW1	cis	Nerve Tibial	GTEx
rs59715913	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66487000-66576600	Weak transcription	Gastric	stomach
2	chr7:66495200-66597200	Weak transcription	Right Ventricle	heart
3	chr7:66508800-66590400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:66518400-66574200	Weak transcription	Small Intestine	intestine
5	chr7:66526400-66585600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:66532400-66587600	Weak transcription	Fetal Kidney	kidney
7	chr7:66532600-66582800	Weak transcription	HSMMtube	muscle
8	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:66534000-66575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
11	chr7:66538400-66593600	Weak transcription	Fetal Thymus	thymus
12	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
14	chr7:66538600-66575200	Weak transcription	Fetal Lung	lung
15	chr7:66540400-66582800	Weak transcription	Placenta	Placenta
16	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66543400-66600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:66544600-66592600	Weak transcription	HepG2	liver
19	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr7:66547000-66577400	Weak transcription	A549	lung
21	chr7:66547000-66594200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:66547600-66594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:66547600-66594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:66547800-66593400	Weak transcription	Pancreas	Pancrea
25	chr7:66547800-66602800	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:66549800-66585000	Weak transcription	Esophagus	oesophagus
27	chr7:66550000-66582800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:66550000-66586200	Weak transcription	Left Ventricle	heart
29	chr7:66550000-66587800	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:66550000-66593400	Weak transcription	Spleen	Spleen
31	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:66550200-66575400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:66550200-66583600	Weak transcription	Adipose Nuclei	Adipose
34	chr7:66550200-66584000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:66550200-66593200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:66550600-66574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:66554600-66595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:66555800-66587400	Weak transcription	Primary B cells from cord blood	blood
39	chr7:66558200-66575600	Weak transcription	Fetal Stomach	stomach
40	chr7:66560400-66593600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:66560800-66589200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:66561000-66574800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr7:66561200-66574600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:66561600-66579000	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:66562800-66593600	Weak transcription	NHEK	skin
46	chr7:66563000-66585600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:66564400-66576600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:66564800-66582000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr7:66564800-66582800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:66564800-66594400	Weak transcription	NH-A	brain

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