Variant report

Variant	rs74037612
Chromosome Location	chr16:79800818-79800819
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	MAFF	chr16:79800662-79800929	K562	blood:	n/a	n/a
2	MAFK	chr16:79800657-79800832	HepG2	liver:	n/a	n/a
3	MAFK	chr16:79800706-79800843	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:79792848..79795161-chr16:79799446..79800979,2	MCF-7	breast:
2	chr16:79792741..79795517-chr16:79798638..79801342,2	K562	blood:
3	chr16:79799632..79801184-chr16:79803446..79804991,2	K562	blood:

Variant related genes	Relation type
ENSG00000260876	TF binding region
ENSG00000261390	Chromatin interaction
ENSG00000260876	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56067230	0.92[AFR][1000 genomes]
rs56127354	0.85[AMR][1000 genomes]
rs61614910	0.85[AMR][1000 genomes]
rs74037611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74037622	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74037623	0.83[AFR][1000 genomes]
rs74039171	0.85[AMR][1000 genomes]
rs8057495	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8061795	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9932785	0.87[AMR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79789200-79801400	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:79789200-79802000	Weak transcription	Primary T cells from cord blood	blood
3	chr16:79789400-79801400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:79792800-79801600	Weak transcription	Esophagus	oesophagus
5	chr16:79792800-79801800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr16:79792800-79804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:79793200-79801200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr16:79793400-79801600	Weak transcription	NHEK	skin
9	chr16:79793400-79801800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:79793600-79801800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:79794800-79801400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr16:79797400-79802000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:79798200-79801800	Enhancers	Fetal Intestine Small	intestine
14	chr16:79798200-79802000	Enhancers	Fetal Intestine Large	intestine
15	chr16:79798400-79801800	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:79798400-79802800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:79799200-79801000	Weak transcription	Fetal Lung	lung
18	chr16:79799200-79801400	Weak transcription	K562	blood
19	chr16:79800000-79802200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr16:79800200-79801600	Enhancers	Small Intestine	intestine
21	chr16:79800400-79801400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr16:79800600-79801600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:79800600-79801800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr16:79800600-79803400	Weak transcription	Gastric	stomach
25	chr16:79800800-79801200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr16:79800800-79801800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr16:79800800-79802200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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