Variant report

Variant	rs9691420
Chromosome Location	chr7:66689144-66689145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10081382	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10240542	1.00[ASN][1000 genomes]
rs10243730	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10247355	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10264939	1.00[ASN][1000 genomes]
rs10266985	1.00[ASN][1000 genomes]
rs11766952	1.00[ASN][1000 genomes]
rs11769345	1.00[ASN][1000 genomes]
rs11769406	1.00[ASN][1000 genomes]
rs11770922	1.00[ASN][1000 genomes]
rs11773861	1.00[ASN][1000 genomes]
rs12698570	1.00[ASN][1000 genomes]
rs13222551	1.00[ASN][1000 genomes]
rs13222852	1.00[ASN][1000 genomes]
rs13222880	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225831	1.00[ASN][1000 genomes]
rs13239441	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241749	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246453	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421427	1.00[ASN][1000 genomes]
rs28524910	1.00[ASN][1000 genomes]
rs28828435	1.00[ASN][1000 genomes]
rs28875922	1.00[ASN][1000 genomes]
rs28880309	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35955950	1.00[ASN][1000 genomes]
rs36001826	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3980714	1.00[ASN][1000 genomes]
rs3980761	1.00[ASN][1000 genomes]
rs4266531	1.00[ASN][1000 genomes]
rs55647045	1.00[ASN][1000 genomes]
rs56042635	1.00[ASN][1000 genomes]
rs56081654	1.00[ASN][1000 genomes]
rs56224758	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376467	1.00[ASN][1000 genomes]
rs57571665	1.00[ASN][1000 genomes]
rs66521840	1.00[ASN][1000 genomes]
rs66669140	1.00[ASN][1000 genomes]
rs66697341	1.00[ASN][1000 genomes]
rs66701377	1.00[ASN][1000 genomes]
rs67794814	1.00[ASN][1000 genomes]
rs68034409	1.00[ASN][1000 genomes]
rs6956400	1.00[ASN][1000 genomes]
rs6958056	1.00[ASN][1000 genomes]
rs6968898	1.00[ASN][1000 genomes]
rs6973163	1.00[ASN][1000 genomes]
rs73144570	1.00[ASN][1000 genomes]
rs7783776	1.00[ASN][1000 genomes]
rs7784131	0.84[EUR][1000 genomes]
rs7789673	1.00[ASN][1000 genomes]
rs7791848	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792207	1.00[ASN][1000 genomes]
rs7795025	1.00[ASN][1000 genomes]
rs7797194	1.00[ASN][1000 genomes]
rs7804288	1.00[ASN][1000 genomes]
rs7811073	1.00[ASN][1000 genomes]
rs9654770	1.00[ASN][1000 genomes]
rs9654858	0.93[AMR][1000 genomes];0.96[EUR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9691420	TYW1	cis	Heart Left Ventricle	GTEx
rs9691420	TYW1	cis	Esophagus Mucosa	GTEx
rs9691420	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66654600-66704600	Weak transcription	Gastric	stomach
2	chr7:66654600-66709600	Weak transcription	Lung	lung
3	chr7:66658000-66703200	Weak transcription	Ovary	ovary
4	chr7:66658600-66691000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:66660600-66701600	Weak transcription	Fetal Kidney	kidney
6	chr7:66660600-66703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr7:66665600-66706800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:66665800-66703400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:66667800-66738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:66670600-66713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:66674000-66691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:66675800-66693800	Weak transcription	Fetal Lung	lung
13	chr7:66675800-66706600	Weak transcription	Aorta	Aorta
14	chr7:66675800-66706800	Weak transcription	Primary T cells from cord blood	blood
15	chr7:66676000-66690200	Weak transcription	K562	blood
16	chr7:66676000-66691000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:66676000-66702800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:66685000-66717000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:66687000-66706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:66687800-66696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:66688200-66706800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr7:66688400-66689400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:66688400-66691400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:66688400-66691600	Weak transcription	HSMM	muscle
25	chr7:66688400-66694600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:66688400-66696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:66688400-66708200	Weak transcription	Dnd41	blood
28	chr7:66688400-66710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:66688600-66690800	Weak transcription	HSMMtube	muscle
30	chr7:66688600-66691000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:66688800-66696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:66688800-66701000	Weak transcription	Left Ventricle	heart
33	chr7:66688800-66701400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:66688800-66703800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:66688800-66716600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:66689000-66694200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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