Variant report

Variant	rs62072858
Chromosome Location	chr17:16525824-16525825
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr17:16525600-16527295	HEK293	kidney:	n/a	n/a
2	KAP1	chr17:16525705-16526913	U2OS	brain:	n/a	n/a
3	TCF12	chr17:16525395-16527513	A549	lung:	n/a	n/a
4	ZNF143	chr17:16525630-16526252	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF274	chr17:16524129-16528112	K562	blood:	n/a	n/a
6	ZNF274	chr17:16525544-16527519	HepG2	liver:	n/a	n/a
7	ZNF274	chr17:16525247-16527375	NT2-D1	testis:	n/a	n/a
8	ZNF274	chr17:16525743-16527090	Hela-S3	cervix:	n/a	n/a
9	SETDB1	chr17:16525224-16527928	K562	blood:	n/a	n/a
10	SETDB1	chr17:16524533-16527612	U2OS	brain:	n/a	n/a
11	GATA3	chr17:16525495-16527213	A549	lung:	n/a	n/a
12	ZNF274	chr17:16525581-16527685	GM08714	blood:	n/a	n/a
13	ZNF274	chr17:16525477-16527505	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF274	chr17:16525625-16527356	K562	blood:	n/a	n/a
15	ZNF274	chr17:16525630-16527189	GM12878	blood:	n/a	n/a
16	KAP1	chr17:16525459-16527497	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16520972..16523245-chr17:16523788..16526094,2	MCF-7	breast:
2	chr17:16515728..16519823-chr17:16521638..16525880,5	MCF-7	breast:
3	chr17:16524378..16526061-chr17:16555059..16557020,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235554	TF binding region
ENSG00000235554	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11868291	0.88[EUR][1000 genomes]
rs11870650	0.85[EUR][1000 genomes]
rs2058197	0.83[EUR][1000 genomes]
rs28419755	0.83[EUR][1000 genomes]
rs28704561	0.83[EUR][1000 genomes]
rs59771043	0.86[EUR][1000 genomes]
rs62072767	0.85[EUR][1000 genomes]
rs62072768	0.83[EUR][1000 genomes]
rs62072769	0.85[EUR][1000 genomes]
rs62072771	0.86[EUR][1000 genomes]
rs62072776	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62072777	0.88[EUR][1000 genomes]
rs62072778	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62072782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072783	1.00[EUR][1000 genomes]
rs62072785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072787	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072846	1.00[EUR][1000 genomes]
rs62072847	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62072859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073662	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073663	1.00[EUR][1000 genomes]
rs62073665	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073667	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073702	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073703	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073705	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073706	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073707	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073708	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62073709	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62073710	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7218473	0.83[EUR][1000 genomes]
rs7224237	1.00[EUR][1000 genomes]
rs73982008	0.86[EUR][1000 genomes]
rs8065062	0.86[EUR][1000 genomes]
rs8065749	0.81[EUR][1000 genomes]
rs9899944	0.83[EUR][1000 genomes]
rs9902115	0.88[EUR][1000 genomes]
rs9909271	0.88[EUR][1000 genomes]
rs9909921	0.88[EUR][1000 genomes]
rs9910496	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16519800-16540000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr17:16520600-16533400	ZNF genes & repeats	Liver	Liver
3	chr17:16521200-16534200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr17:16522000-16540000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:16522600-16529000	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr17:16522800-16528800	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr17:16523000-16528600	ZNF genes & repeats	Fetal Brain Female	brain
8	chr17:16523000-16540400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:16523200-16532200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr17:16523200-16532200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:16523400-16534000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:16523400-16534000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr17:16523400-16537000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:16523400-16538400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:16523800-16528400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr17:16523800-16528600	ZNF genes & repeats	Primary B cells from cord blood	blood
17	chr17:16524000-16526000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:16524000-16527200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr17:16524600-16539400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:16524800-16533400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr17:16525000-16530800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:16525200-16528200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr17:16525400-16526000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:16525400-16528600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
25	chr17:16525600-16526400	ZNF genes & repeats	Fetal Brain Male	brain
26	chr17:16525600-16526600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr17:16525600-16527800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:16525600-16527800	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr17:16525600-16527800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
30	chr17:16525600-16528000	ZNF genes & repeats	Brain Germinal Matrix	brain
31	chr17:16525600-16528000	Weak transcription	Fetal Stomach	stomach
32	chr17:16525600-16528000	Weak transcription	Fetal Thymus	thymus
33	chr17:16525600-16528600	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr17:16525600-16529000	ZNF genes & repeats	Fetal Lung	lung
35	chr17:16525600-16530800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr17:16525600-16533400	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr17:16525800-16526000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:16525800-16526000	Strong transcription	Placenta	Placenta
39	chr17:16525800-16526000	Active TSS	Lung	lung
40	chr17:16525800-16527000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr17:16525800-16527400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr17:16525800-16527800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr17:16525800-16527800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
44	chr17:16525800-16527800	ZNF genes & repeats	HepG2	liver
45	chr17:16525800-16528000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:16525800-16528000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
47	chr17:16525800-16528000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr17:16525800-16528000	ZNF genes & repeats	NH-A	brain
49	chr17:16525800-16528400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
50	chr17:16525800-16528400	ZNF genes & repeats	HSMMtube	muscle

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