Variant report

Variant	rs230968
Chromosome Location	chr17:15210076-15210077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr17:15210069-15210103	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFK	chr17:15209921-15210218	HepG2	liver:	n/a	chr17:15210044-15210064 chr17:15210046-15210062 chr17:15210047-15210061 chr17:15210050-15210060
3	MAFK	chr17:15209637-15210237	IMR90	lung:	n/a	chr17:15210044-15210064 chr17:15210046-15210062 chr17:15210047-15210061 chr17:15210050-15210060

Variant related genes	Relation type
RNU6-799P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs230894	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs230895	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs230896	0.98[EUR][1000 genomes]
rs230897	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230898	0.98[EUR][1000 genomes]
rs230954	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs230963	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs230964	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs230967	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs230968	TEKT3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15205400-15213400	Enhancers	Fetal Stomach	stomach
2	chr17:15207400-15211800	Weak transcription	Brain Germinal Matrix	brain
3	chr17:15207600-15210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr17:15207600-15210400	Weak transcription	Fetal Brain Male	brain
5	chr17:15208200-15210800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:15208200-15211600	Enhancers	Rectal Smooth Muscle	rectum
7	chr17:15209000-15210200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:15209000-15210200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:15209000-15210600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:15209000-15211800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:15209000-15213400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr17:15209200-15210200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:15209400-15210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:15209400-15210400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr17:15209600-15210200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr17:15209600-15210200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:15209600-15210200	Active TSS	Right Atrium	heart
18	chr17:15209600-15210200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr17:15209600-15210400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:15209600-15210400	Active TSS	Adipose Nuclei	Adipose
21	chr17:15209600-15210400	Enhancers	NH-A	brain
22	chr17:15209600-15210400	Flanking Active TSS	Osteobl	bone
23	chr17:15209800-15210200	Enhancers	Brain Anterior Caudate	brain
24	chr17:15209800-15210200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr17:15209800-15210200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr17:15209800-15210400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:15209800-15210400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr17:15209800-15211200	Enhancers	Fetal Kidney	kidney
29	chr17:15209800-15211200	Flanking Active TSS	Fetal Lung	lung
30	chr17:15209800-15213800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr17:15210000-15210200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr17:15210000-15210200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:15210000-15210200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:15210000-15210200	Flanking Active TSS	Ovary	ovary
35	chr17:15210000-15210200	Flanking Active TSS	HSMM	muscle
36	chr17:15210000-15210200	Flanking Active TSS	NHLF	lung
37	chr17:15210000-15210400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:15210000-15210400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr17:15210000-15210400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:15210000-15210400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:15210000-15210400	Enhancers	Brain Cingulate Gyrus	brain
42	chr17:15210000-15210600	Enhancers	HSMMtube	muscle
43	chr17:15210000-15210800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:15210000-15211000	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr17:15210000-15211200	Enhancers	Placenta	Placenta

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