Variant report

Variant	rs12449310
Chromosome Location	chr17:15177262-15177263
allele	G/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	USF1	chr17:15176366-15177353	A549	lung:	n/a	n/a
2	TCF12	chr17:15176087-15177547	A549	lung:	n/a	n/a
3	USF1	chr17:15176719-15177281	A549	lung:	n/a	n/a
4	SP1	chr17:15176161-15177279	A549	lung:	n/a	n/a
5	MAX	chr17:15175883-15177360	A549	lung:	n/a	chr17:15176028-15176038

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15176128..15178880-chr17:15180153..15182408,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230971	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12452365	0.82[EUR][1000 genomes]
rs12452565	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12452683	0.82[EUR][1000 genomes]
rs16951345	0.82[EUR][1000 genomes]
rs16951380	0.82[EUR][1000 genomes]
rs55683203	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56085830	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58893387	0.82[EUR][1000 genomes]
rs7212138	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977995	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73978002	0.82[EUR][1000 genomes]
rs8064719	0.81[AMR][1000 genomes]
rs8069939	0.82[EUR][1000 genomes]
rs8077862	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079693	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8081188	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15173000-15177400	Enhancers	NHDF-Ad	bronchial
2	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
3	chr17:15173800-15177400	Enhancers	NHLF	lung
4	chr17:15174200-15177400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:15174400-15177400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr17:15174800-15177800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:15174800-15181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:15175000-15177400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:15175000-15177400	Enhancers	NH-A	brain
10	chr17:15175400-15177400	Enhancers	Osteobl	bone
11	chr17:15175800-15177400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:15175800-15177400	Flanking Active TSS	A549	lung
13	chr17:15176400-15178000	Enhancers	HSMMtube	muscle
14	chr17:15177000-15177400	Enhancers	Stomach Smooth Muscle	stomach
15	chr17:15177000-15177400	ZNF genes & repeats	HSMM	muscle
16	chr17:15177200-15177400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr17:15177200-15177800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:15177200-15179200	Weak transcription	Right Ventricle	heart
19	chr17:15177200-15179600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:15177200-15180800	Weak transcription	Hela-S3	cervix
21	chr17:15177200-15181400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:15177200-15181600	Weak transcription	Adipose Nuclei	Adipose
23	chr17:15177200-15181600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:15177200-15181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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