Variant report

Variant	rs74496366
Chromosome Location	chr17:45219364-45219365
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45219220-45219370	AG09309	skin:	n/a	n/a
2	ELK1	chr17:45219079-45219451	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr17:45219240-45219390	GM12865	blood:	n/a	n/a
4	TBL1XR1	chr17:45219069-45219456	K562	blood:	n/a	n/a
5	ZBTB33	chr17:45219149-45219439	K562	blood:	n/a	n/a
6	USF2	chr17:45219080-45219453	Hela-S3	cervix:	n/a	n/a
7	UBTF	chr17:45219082-45219445	K562	blood:	n/a	n/a
8	IKZF1	chr17:45219092-45219443	GM12878	blood:	n/a	n/a
9	ZNF143	chr17:45219076-45219451	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr17:45219081-45219444	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
12	TCF7L2	chr17:45219134-45219448	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr17:45219220-45219370	GM12868	blood:	n/a	n/a
14	CTCF	chr17:45219220-45219370	GM12871	blood:	n/a	n/a
15	FAM48A	chr17:45219073-45219446	GM12878	blood:	n/a	n/a
16	CTCF	chr17:45219220-45219370	AoAF	blood vessel:	n/a	n/a
17	POLR2A	chr17:45219095-45219439	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr17:45219093-45219456	SH-SY5Y	brain:	n/a	n/a
19	SMC3	chr17:45219076-45219451	K562	blood:	n/a	n/a
20	BRF2	chr17:45219077-45219542	Hela-S3	cervix:	n/a	n/a
21	UBTF	chr17:45219095-45219457	K562	blood:	n/a	n/a
22	CTCF	chr17:45219220-45219370	GM12870	blood:	n/a	n/a
23	TCF7L2	chr17:45219081-45219450	Hela-S3	cervix:	n/a	n/a
24	USF2	chr17:45219071-45219458	K562	blood:	n/a	n/a
25	ZNF274	chr17:45219079-45219449	H1-hESC	embryonic stem cell:	n/a	n/a
26	RPC155	chr17:45219091-45219803	Hela-S3	cervix:	n/a	n/a
27	RCOR1	chr17:45219075-45219457	K562	blood:	n/a	n/a
28	ZNF274	chr17:45219092-45219444	GM12878	blood:	n/a	n/a
29	CTCF	chr17:45219240-45219390	GM12801	blood:	n/a	n/a
30	WRNIP1	chr17:45219068-45219456	GM12878	blood:	n/a	n/a
31	MAZ	chr17:45219071-45219453	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr17:45219244-45219444	MCF10A-Er-Src	breast:	n/a	n/a
33	FOXP2	chr17:45219148-45219445	SK-N-MC	brain:	n/a	n/a
34	IRF1	chr17:45219077-45219452	K562	blood:	n/a	chr17:45219164-45219178
35	RCOR1	chr17:45219070-45219451	Hela-S3	cervix:	n/a	n/a
36	SMC3	chr17:45219076-45219454	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr17:45219082-45219450	Hela-S3	cervix:	n/a	n/a
38	GTF2F1	chr17:45219072-45219457	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAL1	chr17:45219073-45219447	K562	blood:	n/a	n/a
40	TBP	chr17:45219073-45219453	K562	blood:	n/a	n/a
41	CTCF	chr17:45219220-45219370	AG04450	lung:	n/a	n/a
42	ZZZ3	chr17:45219079-45219801	GM12878	blood:	n/a	n/a
43	BACH1	chr17:45219072-45219456	K562	blood:	n/a	n/a
44	GTF2F1	chr17:45219073-45219458	K562	blood:	n/a	n/a
45	CTCF	chr17:45219220-45219370	AG04449	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3343499	chr17:45213674-45219467	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	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
8	esv4309	chr17:45217226-45220292	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3334202	chr17:45217342-45219470	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	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
11	esv3335106	chr17:45219196-45219646	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3403123	chr17:45219216-45219616	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3438672	chr17:45219237-45219498	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv7557	chr17:45219256-45221297	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3485807	chr17:45219291-45219690	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3485809	chr17:45219291-45219690	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3380104	chr17:45219333-45219534	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3353047	chr17:45219333-45219646	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3381789	chr17:45219354-45219616	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	2 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	chr17:45216400-45221200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45216400-45232600	Strong transcription	Osteobl	bone
9	chr17:45217000-45221000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
11	chr17:45218400-45220200	Weak transcription	Fetal Intestine Large	intestine
12	chr17:45218400-45220800	Weak transcription	HSMMtube	muscle
13	chr17:45218800-45219400	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:45219000-45219400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
19	chr17:45219000-45219400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45219000-45219400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr17:45219000-45219400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
24	chr17:45219000-45219400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr17:45219000-45219400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:45219000-45219400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:45219000-45219400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45219000-45219400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:45219000-45219400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr17:45219000-45219400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
31	chr17:45219000-45219400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
32	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
34	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells from cord blood	blood
35	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
39	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
44	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:45219000-45219400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr17:45219000-45219400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
47	chr17:45219000-45219400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr17:45219000-45219400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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