Variant report

Variant	rs60442420
Chromosome Location	chr17:15176012-15176013
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	MAX	chr17:15175883-15177360	A549	lung:	n/a	chr17:15176028-15176038

Variant related genes	Relation type
ENSG00000230971	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10468477	1.00[EUR][1000 genomes]
rs16951111	1.00[EUR][1000 genomes]
rs16951173	1.00[EUR][1000 genomes]
rs16951182	1.00[EUR][1000 genomes]
rs16951185	1.00[EUR][1000 genomes]
rs16951193	1.00[EUR][1000 genomes]
rs16951242	1.00[EUR][1000 genomes]
rs16951244	1.00[EUR][1000 genomes]
rs4791616	1.00[EUR][1000 genomes]
rs4792583	1.00[EUR][1000 genomes]
rs56041344	1.00[EUR][1000 genomes]
rs56396768	1.00[EUR][1000 genomes]
rs57135592	1.00[EUR][1000 genomes]
rs60259810	1.00[EUR][1000 genomes]
rs60339737	1.00[EUR][1000 genomes]
rs7225695	1.00[EUR][1000 genomes]
rs73977983	1.00[EUR][1000 genomes]
rs73977985	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977987	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977991	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977993	1.00[EUR][1000 genomes]
rs73977994	1.00[EUR][1000 genomes]
rs73977997	1.00[EUR][1000 genomes]
rs73977998	1.00[EUR][1000 genomes]
rs8071793	1.00[EUR][1000 genomes]
rs8076198	1.00[EUR][1000 genomes]
rs9912273	1.00[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15169200-15176200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr17:15172000-15177200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr17:15173000-15176200	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:15173000-15177400	Enhancers	NHDF-Ad	bronchial
5	chr17:15173200-15176200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr17:15173200-15176800	Weak transcription	Right Ventricle	heart
7	chr17:15173200-15177000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:15173200-15192600	Weak transcription	Left Ventricle	heart
9	chr17:15173800-15177400	Enhancers	NHLF	lung
10	chr17:15174200-15176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr17:15174200-15176800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:15174200-15177400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:15174400-15176400	Weak transcription	K562	blood
14	chr17:15174400-15177400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:15174800-15177800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr17:15174800-15181600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:15175000-15176800	Enhancers	HSMM	muscle
18	chr17:15175000-15177400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr17:15175000-15177400	Enhancers	NH-A	brain
20	chr17:15175200-15177200	Enhancers	Adipose Nuclei	Adipose
21	chr17:15175400-15177200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:15175400-15177400	Enhancers	Osteobl	bone
23	chr17:15175600-15176200	Enhancers	Lung	lung
24	chr17:15175600-15177200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:15175800-15177400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:15175800-15177400	Flanking Active TSS	A549	lung
27	chr17:15176000-15176400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr17:15176000-15176400	Flanking Active TSS	HSMMtube	muscle
29	chr17:15176000-15177000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr17:15176000-15177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:15176000-15177200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr17:15176000-15177200	Enhancers	Placenta	Placenta

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