Variant report

Variant	rs1916854
Chromosome Location	chr7:66680322-66680323
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10253681	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10272424	0.84[AFR][1000 genomes]
rs12155261	0.81[AFR][1000 genomes]
rs1608581	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28464901	0.84[AFR][1000 genomes]
rs28502004	0.84[AFR][1000 genomes]
rs28749249	0.82[AFR][1000 genomes]
rs28750410	0.81[AFR][1000 genomes]
rs28759371	0.80[AFR][1000 genomes]
rs28764821	0.84[AFR][1000 genomes]
rs28767482	0.81[AFR][1000 genomes]
rs28879443	0.83[AMR][1000 genomes]
rs34145957	0.83[AFR][1000 genomes]
rs34237838	0.83[AFR][1000 genomes]
rs34773993	0.83[AFR][1000 genomes]
rs4383874	0.81[AFR][1000 genomes]
rs4504527	0.81[AFR][1000 genomes]
rs4636084	0.82[AMR][1000 genomes]
rs4718486	0.82[AFR][1000 genomes]
rs56397344	0.85[AFR][1000 genomes]
rs61404757	0.84[AFR][1000 genomes]
rs66988535	0.81[AFR][1000 genomes]
rs67890875	0.81[AFR][1000 genomes]
rs67902540	0.83[AFR][1000 genomes]
rs6952206	0.84[AFR][1000 genomes]
rs6979706	0.81[AFR][1000 genomes]
rs73144526	0.83[AFR][1000 genomes]
rs7779069	0.81[AFR][1000 genomes]
rs7796196	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9690083	0.81[AFR][1000 genomes]
rs9692279	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	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
4	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
5	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970518	chr7:66647675-66742783	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1916854	TYW1	cis	Esophagus Mucosa	GTEx
rs1916854	TYW1	cis	Heart Left Ventricle	GTEx
rs1916854	TYW1	cis	Nerve Tibial	GTEx
rs1916854	TYW1	cis	Muscle Skeletal	GTEx
rs1916854	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:66654400-66681600	Weak transcription	Spleen	Spleen
4	chr7:66654600-66683400	Weak transcription	Pancreas	Pancrea
5	chr7:66654600-66684600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr7:66654600-66704600	Weak transcription	Gastric	stomach
7	chr7:66654600-66709600	Weak transcription	Lung	lung
8	chr7:66658000-66703200	Weak transcription	Ovary	ovary
9	chr7:66658600-66691000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:66660600-66701600	Weak transcription	Fetal Kidney	kidney
11	chr7:66660600-66703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:66662400-66683000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:66665200-66686200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66665200-66686800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:66665600-66706800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:66665800-66703400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:66667800-66738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:66670400-66682800	Weak transcription	Fetal Intestine Small	intestine
19	chr7:66670600-66713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:66672600-66688000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:66674000-66691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:66675800-66683800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:66675800-66693800	Weak transcription	Fetal Lung	lung
24	chr7:66675800-66706600	Weak transcription	Aorta	Aorta
25	chr7:66675800-66706800	Weak transcription	Primary T cells from cord blood	blood
26	chr7:66676000-66681200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr7:66676000-66684600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:66676000-66687800	Weak transcription	Dnd41	blood
29	chr7:66676000-66688000	Weak transcription	HSMM	muscle
30	chr7:66676000-66690200	Weak transcription	K562	blood
31	chr7:66676000-66691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:66676000-66702800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:66677200-66688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:66678400-66688600	Weak transcription	Left Ventricle	heart
35	chr7:66679800-66680400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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