Variant report

Variant	rs7794380
Chromosome Location	chr7:66545725-66545726
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10224228	0.85[EUR][1000 genomes]
rs10224763	0.84[EUR][1000 genomes]
rs10226634	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10227884	0.81[EUR][1000 genomes]
rs10228308	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10228812	0.87[EUR][1000 genomes]
rs10228932	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10230954	0.82[EUR][1000 genomes]
rs10231655	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10232929	0.81[EUR][1000 genomes]
rs10233035	0.81[EUR][1000 genomes]
rs10234407	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10238245	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10240501	0.81[EUR][1000 genomes]
rs10241334	0.82[EUR][1000 genomes]
rs10242790	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10242919	0.81[EUR][1000 genomes]
rs10249587	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10249716	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10252479	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10256861	0.85[EUR][1000 genomes]
rs10259711	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10268701	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10269571	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10271230	0.81[EUR][1000 genomes]
rs10271374	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10271388	0.81[EUR][1000 genomes]
rs10273294	0.81[EUR][1000 genomes]
rs10273674	0.85[AFR][1000 genomes]
rs10274048	0.80[EUR][1000 genomes]
rs10274443	0.81[EUR][1000 genomes]
rs10277094	0.81[EUR][1000 genomes]
rs10280810	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10281398	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11524606	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11760968	0.80[EUR][1000 genomes]
rs11761516	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11761677	0.81[EUR][1000 genomes]
rs11764514	0.83[EUR][1000 genomes]
rs11766419	0.85[EUR][1000 genomes]
rs11766490	0.85[EUR][1000 genomes]
rs11769928	0.85[EUR][1000 genomes]
rs11769985	0.84[EUR][1000 genomes]
rs11771640	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11773128	0.84[EUR][1000 genomes]
rs12154876	0.85[EUR][1000 genomes]
rs12333596	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12334126	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12698557	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13222146	0.85[EUR][1000 genomes]
rs13222968	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13223029	0.81[EUR][1000 genomes]
rs13243892	0.84[EUR][1000 genomes]
rs13438033	0.81[EUR][1000 genomes]
rs17144710	0.85[EUR][1000 genomes]
rs17144733	0.85[EUR][1000 genomes]
rs17144784	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2140564	0.80[EUR][1000 genomes]
rs2140565	0.80[EUR][1000 genomes]
rs2711913	0.82[AMR][1000 genomes]
rs28484969	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28888140	0.81[EUR][1000 genomes]
rs2949148	0.88[EUR][1000 genomes]
rs2960970	0.84[EUR][1000 genomes]
rs34157075	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs34208798	0.85[EUR][1000 genomes]
rs35913158	0.83[EUR][1000 genomes]
rs3807368	0.85[EUR][1000 genomes]
rs55647442	0.80[EUR][1000 genomes]
rs55681549	0.85[AFR][1000 genomes]
rs55731089	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55738075	0.84[EUR][1000 genomes]
rs55849420	0.81[EUR][1000 genomes]
rs55958146	0.82[AFR][1000 genomes]
rs55974240	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55994185	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56106251	0.82[EUR][1000 genomes]
rs56166786	0.80[EUR][1000 genomes]
rs56307114	0.81[EUR][1000 genomes]
rs56347390	0.85[EUR][1000 genomes]
rs56922729	0.84[EUR][1000 genomes]
rs57885730	0.85[EUR][1000 genomes]
rs58440009	0.82[EUR][1000 genomes]
rs58723885	0.82[EUR][1000 genomes]
rs58756282	0.85[EUR][1000 genomes]
rs58942690	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59540627	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59734986	0.81[EUR][1000 genomes]
rs59737217	0.81[EUR][1000 genomes]
rs60204091	0.85[EUR][1000 genomes]
rs60800157	0.85[EUR][1000 genomes]
rs6460319	0.85[EUR][1000 genomes]
rs6460321	0.85[EUR][1000 genomes]
rs6460322	0.84[EUR][1000 genomes]
rs6460324	0.84[EUR][1000 genomes]
rs66755920	0.80[EUR][1000 genomes]
rs66859603	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67178340	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs67737819	0.85[EUR][1000 genomes]
rs6950170	0.85[EUR][1000 genomes]
rs6951192	0.85[EUR][1000 genomes]
rs6962222	0.83[EUR][1000 genomes]
rs6973836	0.85[EUR][1000 genomes]
rs6974864	0.82[EUR][1000 genomes]
rs6975866	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71535636	0.82[EUR][1000 genomes]
rs71563153	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs71563154	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71563164	0.81[EUR][1000 genomes]
rs7780458	0.86[AFR][1000 genomes]
rs7782407	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7800350	0.85[EUR][1000 genomes]
rs7807231	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9654769	0.83[AFR][1000 genomes]
rs9654845	0.87[AFR][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
rs7794380	TYW1	cis	Esophagus Mucosa	GTEx
rs7794380	TYW1	cis	Nerve Tibial	GTEx
rs7794380	TYW1	cis	Muscle Skeletal	GTEx
rs7794380	TYW1	Cis_1M	lymphoblastoid	RTeQTL
rs7794380	TYW1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:72 , 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	chr7:66534000-66575600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:66534600-66566000	Weak transcription	K562	blood
20	chr7:66535600-66593600	Weak transcription	Hela-S3	cervix
21	chr7:66538200-66555000	Weak transcription	Primary B cells from cord blood	blood
22	chr7:66538400-66549400	Weak transcription	Esophagus	oesophagus
23	chr7:66538400-66549400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr7:66538400-66569800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr7:66538400-66593600	Weak transcription	Fetal Thymus	thymus
26	chr7:66538400-66594200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:66538400-66595800	Weak transcription	Brain Substantia Nigra	brain
28	chr7:66538600-66575200	Weak transcription	Fetal Lung	lung
29	chr7:66539000-66560000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:66540400-66582800	Weak transcription	Placenta	Placenta
31	chr7:66540600-66547600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66540600-66572200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:66540800-66549400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:66540800-66549600	Weak transcription	Ovary	ovary
35	chr7:66540800-66560000	Weak transcription	Thymus	Thymus
36	chr7:66540800-66594000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:66541000-66549400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:66541200-66546400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:66541200-66549400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:66541200-66570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:66541400-66546000	Weak transcription	Primary T cells from cord blood	blood
42	chr7:66541400-66549400	Weak transcription	Liver	Liver
43	chr7:66541400-66554200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:66541400-66568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:66541600-66549200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:66541600-66549600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:66541600-66560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:66541800-66549000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:66542600-66546800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr7:66543000-66548600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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