Variant report

Variant	rs590894
Chromosome Location	chr9:27184755-27184756
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10757641	0.81[JPT][hapmap]
rs13295206	0.82[ASN][1000 genomes]
rs13298110	0.85[ASN][1000 genomes]
rs2224530	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2273722	0.81[JPT][hapmap]
rs2273723	0.86[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs2273724	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs2756900	0.81[JPT][hapmap]
rs3117638	0.90[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34416950	0.82[ASN][1000 genomes]
rs35275206	0.80[ASN][1000 genomes]
rs489451	0.81[JPT][hapmap]
rs489552	0.84[AMR][1000 genomes]
rs536482	0.83[AMR][1000 genomes]
rs541065	0.81[JPT][hapmap]
rs542913	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs566490	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs574118	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs578327	0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs593621	0.81[AMR][1000 genomes]
rs594949	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs595303	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs607650	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs608416	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs633903	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs685421	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1016733	chr9:27073650-27264576	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1022313	chr9:27083369-27250505	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1017802	chr9:27088160-27262682	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1019104	chr9:27088160-27358206	Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv6512	chr9:27155677-27200455	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv892864	chr9:27176554-27296705	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv466335	chr9:27179244-27234029	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv613946	chr9:27179244-27234029	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs590894	TEK	cis	Whole Blood	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27151000-27229200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:27165400-27198200	Weak transcription	Ovary	ovary
3	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:27166200-27192200	Weak transcription	Fetal Stomach	stomach
5	chr9:27166200-27205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:27178400-27197200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:27179400-27184800	Enhancers	NHEK	skin
9	chr9:27179600-27191800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:27180800-27191800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:27180800-27230600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:27182200-27192400	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:27182400-27192200	Weak transcription	Aorta	Aorta
14	chr9:27182400-27192200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:27182600-27194000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:27182800-27187800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr9:27183000-27185000	Weak transcription	Fetal Lung	lung
18	chr9:27184000-27190400	Weak transcription	Left Ventricle	heart
19	chr9:27184000-27192200	Weak transcription	Adipose Nuclei	Adipose
20	chr9:27184000-27197800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:27184200-27185600	Enhancers	Hela-S3	cervix
22	chr9:27184200-27186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:27184200-27186000	Enhancers	HUVEC	blood vessel
24	chr9:27184200-27186400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:27184200-27192600	Weak transcription	Lung	lung
26	chr9:27184200-27193800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:27184200-27194000	Weak transcription	Psoas Muscle	Psoas
28	chr9:27184200-27212600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:27184400-27184800	Weak transcription	Stomach Mucosa	stomach
30	chr9:27184400-27191000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:27184600-27188800	Weak transcription	Gastric	stomach

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