Variant report

Variant	rs12350649
Chromosome Location	chr9:27174170-27174171
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10812532	0.81[YRI][hapmap]
rs10967762	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967763	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967766	0.81[YRI][hapmap]
rs11791294	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038569	1.00[CEU][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038570	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2208635	1.00[ASN][1000 genomes]
rs2208636	1.00[ASN][1000 genomes]
rs2208637	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35357088	1.00[ASN][1000 genomes]
rs36135817	0.91[AMR][1000 genomes];0.94[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12350649	TEK	cis	cerebellum	SCAN

Chromatin state (count:23 , 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	chr9:27152000-27174600	Weak transcription	Fetal Muscle Leg	muscle
3	chr9:27152400-27181600	Weak transcription	Adipose Nuclei	Adipose
4	chr9:27158200-27183600	Weak transcription	Lung	lung
5	chr9:27162800-27177800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:27163000-27178000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:27164400-27175400	Weak transcription	Fetal Intestine Small	intestine
8	chr9:27165400-27198200	Weak transcription	Ovary	ovary
9	chr9:27165400-27219200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:27165800-27181600	Weak transcription	Fetal Lung	lung
11	chr9:27166000-27175800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:27166000-27183600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr9:27166200-27192200	Weak transcription	Fetal Stomach	stomach
14	chr9:27166200-27205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:27166200-27229000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr9:27168200-27176400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:27169000-27175000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:27171400-27174800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:27171800-27174600	Weak transcription	Right Ventricle	heart
20	chr9:27172600-27174800	Strong transcription	HUVEC	blood vessel
21	chr9:27173200-27174800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:27173200-27179200	Weak transcription	NH-A	brain
23	chr9:27173400-27174600	Weak transcription	Left Ventricle	heart

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