Variant report

Variant	rs7794497
Chromosome Location	chr7:66569920-66569921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10224228	0.83[AFR][1000 genomes]
rs10228157	0.84[AFR][1000 genomes]
rs10230954	0.82[AFR][1000 genomes]
rs10236844	0.88[AFR][1000 genomes]
rs10240501	0.83[AFR][1000 genomes]
rs10241454	0.82[AFR][1000 genomes]
rs10271230	0.83[AFR][1000 genomes]
rs10273294	0.82[AFR][1000 genomes]
rs10274048	0.82[AFR][1000 genomes]
rs10274443	0.82[AFR][1000 genomes]
rs10282273	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11760318	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11760968	0.80[AFR][1000 genomes]
rs11764514	0.83[AFR][1000 genomes]
rs11765422	0.85[AFR][1000 genomes]
rs11765443	0.84[AFR][1000 genomes]
rs11766490	0.84[AFR][1000 genomes]
rs11769928	0.84[AFR][1000 genomes]
rs11773128	0.83[AFR][1000 genomes]
rs13222146	0.84[AFR][1000 genomes]
rs13223029	0.83[AFR][1000 genomes]
rs13232027	0.81[AFR][1000 genomes]
rs13437823	0.82[AFR][1000 genomes]
rs13438033	0.82[AFR][1000 genomes]
rs17137288	0.81[AFR][1000 genomes]
rs17144722	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2140565	0.82[AFR][1000 genomes]
rs2690151	0.82[AFR][1000 genomes]
rs28760321	0.82[EUR][1000 genomes]
rs2949148	0.84[AFR][1000 genomes]
rs2960961	0.84[AFR][1000 genomes]
rs34512474	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3962073	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4109495	0.81[AFR][1000 genomes]
rs55738075	0.80[AFR][1000 genomes]
rs56106251	0.81[AFR][1000 genomes]
rs56243158	0.87[EUR][1000 genomes]
rs56347390	0.84[AFR][1000 genomes]
rs57885730	0.82[AFR][1000 genomes]
rs59715913	0.81[AFR][1000 genomes]
rs60204091	0.84[AFR][1000 genomes]
rs60356903	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6460322	0.84[AFR][1000 genomes]
rs6950170	0.84[AFR][1000 genomes]
rs6951192	0.83[AFR][1000 genomes]
rs6954526	0.85[AFR][1000 genomes]
rs6959635	0.84[AFR][1000 genomes]
rs6962222	0.82[AFR][1000 genomes]
rs7787691	0.82[AFR][1000 genomes]
rs7801361	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7809810	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7794497	TYW1	cis	Esophagus Mucosa	GTEx
rs7794497	TYW1	cis	Heart Left Ventricle	GTEx
rs7794497	TYW1	cis	Muscle Skeletal	GTEx
rs7794497	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs7794497	TYW1	cis	Nerve Tibial	GTEx

Chromatin state (count:98 , 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	chr7:66532800-66570200	Weak transcription	Osteobl	bone
9	chr7:66533800-66623200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr7:66534000-66575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
12	chr7:66538400-66593600	Weak transcription	Fetal Thymus	thymus
13	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:66538600-66575200	Weak transcription	Fetal Lung	lung
16	chr7:66540400-66582800	Weak transcription	Placenta	Placenta
17	chr7:66540600-66572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:66541200-66570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr7:66543400-66600000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:66544600-66592600	Weak transcription	HepG2	liver
22	chr7:66545600-66616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:66546800-66570000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:66547000-66577400	Weak transcription	A549	lung
25	chr7:66547000-66594200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:66547600-66594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:66547600-66594000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:66547800-66593400	Weak transcription	Pancreas	Pancrea
29	chr7:66547800-66602800	Weak transcription	Fetal Muscle Leg	muscle
30	chr7:66549800-66585000	Weak transcription	Esophagus	oesophagus
31	chr7:66550000-66570000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:66550000-66582800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr7:66550000-66586200	Weak transcription	Left Ventricle	heart
34	chr7:66550000-66587800	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:66550000-66593400	Weak transcription	Spleen	Spleen
36	chr7:66550000-66624000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:66550200-66571800	Weak transcription	Liver	Liver
38	chr7:66550200-66575400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:66550200-66583600	Weak transcription	Adipose Nuclei	Adipose
40	chr7:66550200-66584000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr7:66550200-66593200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:66550400-66570000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:66550600-66570000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:66550600-66574600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:66550800-66570000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:66554600-66595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:66555600-66570600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:66555800-66587400	Weak transcription	Primary B cells from cord blood	blood
49	chr7:66558200-66575600	Weak transcription	Fetal Stomach	stomach
50	chr7:66559400-66570000	Weak transcription	Primary T cells from cord blood	blood

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