Variant report

Variant	rs72687124
Chromosome Location	chr1:78552770-78552771
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	KAP1	chr1:78552369-78552839	HEK293	kidney:	n/a	n/a
2	KAP1	chr1:78552401-78552772	U2OS	brain:	n/a	n/a
3	SETDB1	chr1:78552062-78552953	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78468615..78470358-chr1:78550918..78552867,2	K562	blood:

Variant related genes	Relation type
ENSG00000213560	TF binding region
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1325513	1.00[AFR][1000 genomes]
rs1408955	1.00[AFR][1000 genomes]
rs2032056	1.00[AFR][1000 genomes]
rs72685315	1.00[AFR][1000 genomes]
rs72685335	1.00[AFR][1000 genomes]
rs72685338	1.00[AFR][1000 genomes]
rs72685344	1.00[AFR][1000 genomes]
rs72685346	1.00[AFR][1000 genomes]
rs72685355	1.00[AFR][1000 genomes]
rs72685362	1.00[AFR][1000 genomes]
rs72685366	1.00[AFR][1000 genomes]
rs72685370	1.00[AFR][1000 genomes]
rs72685371	1.00[AFR][1000 genomes]
rs72685373	1.00[AFR][1000 genomes]
rs72685374	1.00[AFR][1000 genomes]
rs72685376	1.00[AFR][1000 genomes]
rs72685382	1.00[AFR][1000 genomes]
rs72685386	1.00[AFR][1000 genomes]
rs72685398	1.00[AFR][1000 genomes]
rs72687103	1.00[AFR][1000 genomes]
rs72687112	1.00[AFR][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	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78535000-78566800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:78535200-78554600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:78544200-78556400	Weak transcription	K562	blood
4	chr1:78544200-78558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:78545400-78561800	Weak transcription	Left Ventricle	heart
6	chr1:78545400-78562600	Weak transcription	Small Intestine	intestine
7	chr1:78546200-78554600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:78546600-78579800	Weak transcription	Liver	Liver
9	chr1:78546800-78561400	Weak transcription	Ovary	ovary
10	chr1:78548600-78554600	Weak transcription	Osteobl	bone
11	chr1:78549600-78560200	Weak transcription	Fetal Heart	heart
12	chr1:78550800-78562600	Weak transcription	Aorta	Aorta
13	chr1:78552000-78552800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr1:78552200-78552800	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr1:78552200-78552800	ZNF genes & repeats	HepG2	liver
16	chr1:78552200-78553200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:78552400-78553400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

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