Variant report

Variant	rs2530064
Chromosome Location	chr17:15620481-15620482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr17:15619923-15620857	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:15619827-15620606	H1-hESC	embryonic stem cell:	n/a	n/a
3	USF1	chr17:15620120-15620645	A549	lung:	n/a	n/a
4	SETDB1	chr17:15619506-15621212	U2OS	brain:	n/a	n/a
5	CBX3	chr17:15619988-15620697	K562	blood:	n/a	n/a
6	ZNF274	chr17:15619777-15620831	NT2-D1	testis:	n/a	n/a
7	GTF2F1	chr17:15620373-15620539	Hela-S3	cervix:	n/a	n/a
8	TRIM28	chr17:15620128-15620567	K562	blood:	n/a	n/a
9	GTF2F1	chr17:15620275-15620571	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:15620437-15620570	H1-hESC	embryonic stem cell:	n/a	n/a
11	CBX3	chr17:15620100-15620529	K562	blood:	n/a	n/a
12	SETDB1	chr17:15619917-15621176	K562	blood:	n/a	n/a
13	ZNF274	chr17:15619353-15620911	H1-hESC	embryonic stem cell:	n/a	n/a
14	KAP1	chr17:15619809-15620889	HEK293	kidney:	n/a	n/a
15	ZNF274	chr17:15619769-15620714	GM12878	blood:	n/a	n/a
16	USF1	chr17:15620450-15620596	GM12878	blood:	n/a	n/a
17	TCF12	chr17:15619765-15620959	A549	lung:	n/a	n/a
18	ZNF274	chr17:15619769-15620749	HepG2	liver:	n/a	n/a
19	KAP1	chr17:15619528-15621169	K562	blood:	n/a	n/a
20	ZNF143	chr17:15620265-15620564	H1-hESC	embryonic stem cell:	n/a	n/a
21	KAP1	chr17:15619919-15620755	U2OS	brain:	n/a	n/a
22	ZNF274	chr17:15618529-15621273	K562	blood:	n/a	n/a
23	TRIM28	chr17:15619984-15620794	K562	blood:	n/a	n/a
24	POLR2A	chr17:15619843-15620760	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF274	chr17:15619773-15620787	GM08714	blood:	n/a	n/a
26	ZNF274	chr17:15619772-15620831	K562	blood:	n/a	n/a
27	USF1	chr17:15619938-15620645	A549	lung:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000187607	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3865263	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs9905520	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	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
4	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv907705	chr17:15611495-15717546	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15604200-15623800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:15604400-15623800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:15604800-15623400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:15607000-15623400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr17:15608200-15621200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:15608400-15623800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr17:15608400-15623800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:15612000-15621200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:15612400-15620600	Weak transcription	Placenta	Placenta
10	chr17:15614200-15623600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr17:15614600-15621200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:15614600-15623400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr17:15614600-15623400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:15614800-15621000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:15614800-15623400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr17:15615400-15620600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:15616000-15622000	ZNF genes & repeats	Liver	Liver
18	chr17:15616200-15621200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr17:15616400-15620800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:15616800-15620800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr17:15616800-15626200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr17:15617400-15620600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:15617600-15621000	ZNF genes & repeats	Dnd41	blood
24	chr17:15617800-15623800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:15618400-15623200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr17:15618600-15620600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr17:15618600-15622000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:15618800-15621000	ZNF genes & repeats	Fetal Lung	lung
29	chr17:15618800-15623400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr17:15619000-15621400	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr17:15619000-15622000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr17:15619000-15623200	ZNF genes & repeats	A549	lung
33	chr17:15619000-15623400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr17:15619000-15623800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:15619200-15621000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:15619200-15621200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr17:15619400-15620800	ZNF genes & repeats	NH-A	brain
38	chr17:15619600-15622800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:15619800-15620600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr17:15620000-15620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:15620000-15621400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
42	chr17:15620000-15621800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:15620200-15621000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr17:15620400-15620800	ZNF genes & repeats	Fetal Brain Male	brain
45	chr17:15620400-15620800	ZNF genes & repeats	Osteobl	bone
46	chr17:15620400-15621000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
47	chr17:15620400-15621000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr17:15620400-15621000	ZNF genes & repeats	HSMMtube	muscle
49	chr17:15620400-15621200	ZNF genes & repeats	Fetal Brain Female	brain
50	chr17:15620400-15621200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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