Variant report

Variant	rs73280922
Chromosome Location	chr17:15210477-15210478
allele	C/T
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	CEBPB	chr17:15210324-15210626	HepG2	liver:	n/a	n/a
2	CEBPB	chr17:15210343-15210635	A549	lung:	n/a	n/a
3	CEBPB	chr17:15210358-15210658	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
TEKT3	TF binding region
RNU6-799P	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12941158	1.00[AMR][1000 genomes]
rs2875119	1.00[AMR][1000 genomes]
rs4792591	1.00[AMR][1000 genomes]
rs56206856	0.82[AFR][1000 genomes]
rs59768556	1.00[AMR][1000 genomes]
rs73280339	1.00[AMR][1000 genomes]
rs73978001	1.00[AMR][1000 genomes]
rs9891798	1.00[AMR][1000 genomes]
rs9895397	1.00[AMR][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

No data

Chromatin state (count:41 , 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	chr17:15208200-15210800	Enhancers	Fetal Muscle Leg	muscle
4	chr17:15208200-15211600	Enhancers	Rectal Smooth Muscle	rectum
5	chr17:15209000-15210600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:15209000-15211800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr17:15209000-15213400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:15209800-15211200	Enhancers	Fetal Kidney	kidney
9	chr17:15209800-15211200	Flanking Active TSS	Fetal Lung	lung
10	chr17:15209800-15213800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr17:15210000-15210600	Enhancers	HSMMtube	muscle
12	chr17:15210000-15210800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr17:15210000-15211000	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr17:15210000-15211200	Enhancers	Placenta	Placenta
15	chr17:15210200-15210600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:15210200-15210600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr17:15210200-15210600	Enhancers	Colonic Mucosa	Colon
18	chr17:15210200-15210600	Enhancers	Fetal Intestine Small	intestine
19	chr17:15210200-15210600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr17:15210200-15210600	Enhancers	NHDF-Ad	bronchial
21	chr17:15210200-15210800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:15210200-15210800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:15210200-15210800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:15210200-15211000	Enhancers	Duodenum Mucosa	Duodenum
25	chr17:15210200-15211000	Enhancers	NHLF	lung
26	chr17:15210200-15211400	Enhancers	Psoas Muscle	Psoas
27	chr17:15210200-15212000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:15210200-15212000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:15210200-15213800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr17:15210400-15210600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:15210400-15210600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:15210400-15210600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:15210400-15210600	Enhancers	Spleen	Spleen
34	chr17:15210400-15210600	Bivalent Enhancer	HSMM	muscle
35	chr17:15210400-15210600	Enhancers	Osteobl	bone
36	chr17:15210400-15211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:15210400-15211400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr17:15210400-15211800	Active TSS	Fetal Brain Male	brain
39	chr17:15210400-15215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:15210400-15215600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr17:15210400-15216800	Weak transcription	Ovary	ovary

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