Variant report

Variant	rs138805201
Chromosome Location	chr17:45219164-45219165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr17:45219079-45219451	Hela-S3	cervix:	n/a	n/a
2	TBL1XR1	chr17:45219069-45219456	K562	blood:	n/a	n/a
3	ZBTB33	chr17:45219149-45219439	K562	blood:	n/a	n/a
4	USF2	chr17:45219080-45219453	Hela-S3	cervix:	n/a	n/a
5	UBTF	chr17:45219082-45219445	K562	blood:	n/a	n/a
6	IKZF1	chr17:45219092-45219443	GM12878	blood:	n/a	n/a
7	ZNF143	chr17:45219076-45219451	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr17:45219081-45219444	MCF10A-Er-Src	breast:	n/a	n/a
9	GTF3C2	chr17:45219094-45219801	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr17:45219160-45219310	HRPEpiC	eye:	n/a	n/a
11	TCF7L2	chr17:45219134-45219448	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr17:45219120-45219270	HBMEC	blood vessel:	n/a	n/a
13	FAM48A	chr17:45219073-45219446	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:45219095-45219439	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr17:45219093-45219456	SH-SY5Y	brain:	n/a	n/a
16	CTCF	chr17:45219120-45219270	HA-sp	spinal cord:	n/a	n/a
17	SMC3	chr17:45219076-45219451	K562	blood:	n/a	n/a
18	CTCF	chr17:45219160-45219310	HCT-116	colon:	n/a	n/a
19	CTCF	chr17:45219160-45219310	GM12868	blood:	n/a	n/a
20	BRF2	chr17:45219077-45219542	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr17:45219120-45219270	AG04449	skin:	n/a	n/a
22	CTCF	chr17:45219140-45219290	WI-38	lung:	n/a	n/a
23	CTCF	chr17:45219160-45219310	GM12866	blood:	n/a	n/a
24	UBTF	chr17:45219095-45219457	K562	blood:	n/a	n/a
25	CTCF	chr17:45219160-45219310	HFF-Myc	foreskin:	n/a	n/a
26	TCF7L2	chr17:45219081-45219450	Hela-S3	cervix:	n/a	n/a
27	USF2	chr17:45219071-45219458	K562	blood:	n/a	n/a
28	ZNF274	chr17:45219079-45219449	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr17:45219160-45219310	RPTEC	kidney:	n/a	n/a
30	RPC155	chr17:45219091-45219803	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr17:45219075-45219457	K562	blood:	n/a	n/a
32	ZNF274	chr17:45219092-45219444	GM12878	blood:	n/a	n/a
33	CTCF	chr17:45219120-45219270	HPF	lung:	n/a	n/a
34	WRNIP1	chr17:45219068-45219456	GM12878	blood:	n/a	n/a
35	MAZ	chr17:45219071-45219453	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr17:45219120-45219270	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr17:45219120-45219270	GM12878	blood:	n/a	n/a
38	FOXP2	chr17:45219148-45219445	SK-N-MC	brain:	n/a	n/a
39	CTCF	chr17:45219120-45219270	HCFaa	heart:	n/a	n/a
40	CTCF	chr17:45219160-45219310	WI-38	lung:	n/a	n/a
41	IRF1	chr17:45219077-45219452	K562	blood:	n/a	chr17:45219164-45219178
42	CTCF	chr17:45219160-45219310	MCF-7	breast:	n/a	n/a
43	RCOR1	chr17:45219070-45219451	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr17:45219076-45219454	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr17:45219082-45219450	Hela-S3	cervix:	n/a	n/a
46	GTF2F1	chr17:45219072-45219457	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr17:45219160-45219310	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr17:45219140-45219290	NHDF-neo	bronchial:	n/a	n/a
49	TAL1	chr17:45219073-45219447	K562	blood:	n/a	n/a
50	CTCF	chr17:45219160-45219310	HAc	cerebellar:	n/a	n/a

No data

Variant related genes	Relation type
CDC27	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	esv6742	chr17:45214674-45219295	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3436289	chr17:45216074-45219285	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3344303	chr17:45216111-45219329	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3361140	chr17:45216140-45219311	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv8768	chr17:45216176-45219282	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3518725	chr17:45216185-45219268	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3518726	chr17:45216185-45219268	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3333962	chr17:45216199-45219268	ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	esv3411062	chr17:45218890-45219356	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv3426692	chr17:45218960-45219306	Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	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	chr17:45216400-45219200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:45216400-45219200	Weak transcription	Hela-S3	cervix
8	chr17:45216400-45219200	Weak transcription	NHEK	skin
9	chr17:45216400-45221200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr17:45216400-45232600	Strong transcription	Osteobl	bone
12	chr17:45216800-45219200	Strong transcription	Dnd41	blood
13	chr17:45217000-45219200	Strong transcription	NHDF-Ad	bronchial
14	chr17:45217000-45221000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
16	chr17:45218400-45219200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:45218400-45220200	Weak transcription	Fetal Intestine Large	intestine
18	chr17:45218400-45220800	Weak transcription	HSMMtube	muscle
19	chr17:45218800-45219200	Weak transcription	A549	lung
20	chr17:45218800-45219400	ZNF genes & repeats	Colon Smooth Muscle	Colon
21	chr17:45219000-45219200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:45219000-45219200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:45219000-45219400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:45219000-45219400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45219000-45219400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
28	chr17:45219000-45219400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:45219000-45219400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr17:45219000-45219400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr17:45219000-45219400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr17:45219000-45219400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr17:45219000-45219400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45219000-45219400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:45219000-45219400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:45219000-45219400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45219000-45219400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr17:45219000-45219400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
40	chr17:45219000-45219400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
41	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from cord blood	blood
42	chr17:45219000-45219400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr17:45219000-45219400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr17:45219000-45219400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
46	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
47	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:45219000-45219400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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