Variant report

Variant	rs377519746
Chromosome Location	chr17:45221357-45221358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr17:45221082-45221463	Hela-S3	cervix:	n/a	n/a
2	IRF3	chr17:45221088-45221461	GM12878	blood:	n/a	n/a
3	MYC	chr17:45221259-45221397	MCF-7	breast:	n/a	n/a
4	MAFK	chr17:45221083-45221463	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr17:45221081-45221473	K562	blood:	n/a	n/a
6	UBTF	chr17:45221093-45221451	K562	blood:	n/a	n/a
7	MAZ	chr17:45221081-45221464	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr17:45221075-45221500	K562	blood:	n/a	n/a
9	BACH1	chr17:45221080-45221465	K562	blood:	n/a	n/a
10	MYC	chr17:45221265-45221367	MCF-7	breast:	n/a	n/a
11	BRCA1	chr17:45221081-45221467	GM12878	blood:	n/a	n/a
12	TCF7L2	chr17:45221091-45221458	Hela-S3	cervix:	n/a	n/a
13	GTF2F1	chr17:45221081-45221467	K562	blood:	n/a	n/a
14	WRNIP1	chr17:45221093-45221465	GM12878	blood:	n/a	n/a
15	IRF3	chr17:45221092-45221462	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr17:45221249-45221388	MCF10A-Er-Src	breast:	n/a	n/a
17	TBP	chr17:45221085-45221455	K562	blood:	n/a	n/a
18	STAT3	chr17:45221084-45221460	MCF10A-Er-Src	breast:	n/a	n/a
19	RCOR1	chr17:45221084-45221474	K562	blood:	n/a	n/a
20	ZNF143	chr17:45221079-45221474	Hela-S3	cervix:	n/a	n/a
21	ZNF274	chr17:45221249-45221453	GM12878	blood:	n/a	n/a
22	KAT2A	chr17:45221084-45221459	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr17:45221087-45221466	Hela-S3	cervix:	n/a	n/a
24	GTF2F1	chr17:45221085-45221460	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:45221220-45221370	NHLF	lung:	n/a	n/a
26	ZKSCAN1	chr17:45221084-45221463	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr17:45221260-45221372	A549	lung:	n/a	n/a
28	SMC3	chr17:45221081-45221466	Hela-S3	cervix:	n/a	n/a
29	TBL1XR1	chr17:45221084-45221468	K562	blood:	n/a	n/a
30	ELK1	chr17:45221079-45221462	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr17:45221256-45221450	MCF-7	breast:	n/a	n/a
32	ELK1	chr17:45221085-45221467	K562	blood:	n/a	n/a
33	BRCA1	chr17:45221081-45221463	Hela-S3	cervix:	n/a	n/a
34	ZNF274	chr17:45221250-45221461	H1-hESC	embryonic stem cell:	n/a	n/a
35	UBTF	chr17:45221094-45221451	K562	blood:	n/a	n/a
36	GATA3	chr17:45220794-45221455	SH-SY5Y	brain:	n/a	n/a
37	USF2	chr17:45221085-45221467	K562	blood:	n/a	n/a
38	IKZF1	chr17:45221092-45221451	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:45221257-45221399	MCF-7	breast:	n/a	n/a
40	RCOR1	chr17:45221081-45221469	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45221257..45221782-chr2:133016917..133017640,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription 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 target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3391514	chr17:45219677-45229261	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv8272	chr17:45219757-45232073	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3323498	chr17:45221212-45229280	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3411296	chr17:45221227-45221543	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3325465	chr17:45221246-45229257	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3402949	chr17:45221263-45232118	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3334172	chr17:45221292-45232146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45216400-45232600	Strong transcription	Osteobl	bone
8	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
9	chr17:45219000-45221400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr17:45219000-45221400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:45219000-45221400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr17:45219000-45221400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45219000-45221400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
14	chr17:45219000-45221400	ZNF genes & repeats	Left Ventricle	heart
15	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:45220000-45232800	Strong transcription	A549	lung
18	chr17:45220800-45221400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr17:45220800-45221400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr17:45220800-45221400	ZNF genes & repeats	Primary B cells from cord blood	blood
21	chr17:45220800-45221400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:45220800-45221400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:45220800-45221400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
24	chr17:45220800-45221400	ZNF genes & repeats	Brain Angular Gyrus	brain
25	chr17:45220800-45221400	ZNF genes & repeats	Brain Anterior Caudate	brain
26	chr17:45220800-45221400	ZNF genes & repeats	Colonic Mucosa	Colon
27	chr17:45220800-45221400	ZNF genes & repeats	Fetal Kidney	kidney
28	chr17:45220800-45221400	ZNF genes & repeats	Fetal Lung	lung
29	chr17:45220800-45221400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
30	chr17:45220800-45221400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr17:45220800-45221400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr17:45220800-45221400	ZNF genes & repeats	HMEC	breast
33	chr17:45220800-45221400	ZNF genes & repeats	HSMMtube	muscle
34	chr17:45220800-45221400	ZNF genes & repeats	HUVEC	blood vessel
35	chr17:45220800-45221400	ZNF genes & repeats	K562	blood
36	chr17:45221000-45221400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:45221000-45221400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr17:45221000-45221400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45221000-45221400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:45221000-45221400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr17:45221000-45221400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr17:45221000-45221400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
43	chr17:45221000-45221400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr17:45221000-45221400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:45221000-45221400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr17:45221000-45221400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr17:45221000-45221400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr17:45221000-45221400	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr17:45221000-45221400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr17:45221000-45221400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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