Variant report

Variant	rs75637741
Chromosome Location	chr17:45214623-45214624
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRF2	chr17:45212732-45214887	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr17:45214560-45214710	AG04450	lung:	n/a	n/a
3	CTCF	chr17:45214540-45214690	HFF-Myc	foreskin:	n/a	n/a
4	TCF12	chr17:45214427-45214787	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF274	chr17:45212764-45214889	K562	blood:	n/a	n/a
6	CTCF	chr17:45214560-45214710	GM12866	blood:	n/a	n/a
7	TBL1XR1	chr17:45212726-45214897	K562	blood:	n/a	n/a
8	CTCF	chr17:45214540-45214690	GM12870	blood:	n/a	n/a
9	STAT3	chr17:45214366-45214882	MCF10A-Er-Src	breast:	n/a	n/a
10	CTCF	chr17:45214560-45214710	HVMF	connective:	n/a	n/a
11	CTCF	chr17:45214560-45214710	GM12801	blood:	n/a	n/a
12	CTCF	chr17:45214540-45214690	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr17:45214540-45214690	GM12872	blood:	n/a	n/a
14	ZNF274	chr17:45213615-45214749	HepG2	liver:	n/a	n/a
15	CTCF	chr17:45214560-45214710	HPF	lung:	n/a	n/a
16	RDBP	chr17:45212750-45214758	K562	blood:	n/a	n/a
17	CTCF	chr17:45214560-45214710	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr17:45214560-45214710	HMEC	breast:	n/a	n/a
19	UBTF	chr17:45212771-45214893	K562	blood:	n/a	n/a
20	E2F4	chr17:45212764-45214891	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXP2	chr17:45214133-45214778	SK-N-MC	brain:	n/a	chr17:45214236-45214248
22	E2F4	chr17:45212763-45214888	GM12878	blood:	n/a	n/a
23	IRF1	chr17:45212760-45214890	K562	blood:	n/a	n/a
24	ZNF274	chr17:45212761-45214895	GM08714	blood:	n/a	n/a
25	SMC3	chr17:45212762-45214894	Hela-S3	cervix:	n/a	n/a
26	RPC155	chr17:45212737-45214887	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr17:45214540-45214690	AG09319	gingival:	n/a	n/a
28	UBTF	chr17:45212775-45214886	K562	blood:	n/a	n/a
29	ZNF274	chr17:45212775-45214887	GM12878	blood:	n/a	n/a
30	STAT3	chr17:45212762-45214884	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr17:45212764-45214896	Hela-S3	cervix:	n/a	n/a
32	TCF7L2	chr17:45212764-45214765	HepG2	liver:	n/a	chr17:45214217-45214227
33	FAM48A	chr17:45212757-45214893	GM12878	blood:	n/a	n/a
34	CTCF	chr17:45214540-45214690	NHEK	skin:	n/a	n/a
35	FAM48A	chr17:45212758-45214886	Hela-S3	cervix:	n/a	n/a
36	FOS	chr17:45212753-45214834	Hela-S3	cervix:	n/a	n/a
37	ZNF274	chr17:45212760-45214886	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr17:45214541-45214718	MCF-7	breast:	n/a	n/a
39	EP300	chr17:45212759-45214894	GM12878	blood:	n/a	chr17:45214235-45214245
40	ATF1	chr17:45212762-45214888	K562	blood:	n/a	n/a
41	CTCF	chr17:45214540-45214690	RPTEC	kidney:	n/a	n/a
42	ZBTB33	chr17:45214424-45214784	K562	blood:	n/a	n/a
43	CTCF	chr17:45214480-45214630	GM12864	blood:	n/a	n/a
44	STAT3	chr17:45212763-45214890	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr17:45214560-45214710	HEK293	kidney:	n/a	n/a
46	CTCF	chr17:45214560-45214710	HEEpiC	esophagus:	n/a	n/a
47	FOXP2	chr17:45214534-45214762	SK-N-MC	brain:	n/a	n/a
48	STAT3	chr17:45214377-45214873	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr17:45212833-45214887	GM12878	blood:	n/a	n/a
50	CTCF	chr17:45214560-45214710	AoAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	esv19172	chr17:45212900-45214698	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3364266	chr17:45213355-45216394	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv828028	chr17:45213532-45214711	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	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
10	esv2655194	chr17:45213766-45216342	ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3342727	chr17:45213855-45216329	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv828029	chr17:45213868-45214705	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv828032	chr17:45213868-45214711	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3382367	chr17:45214356-45214820	Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	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
16	esv3359541	chr17:45214400-45216329	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3427513	chr17:45214500-45214749	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3364511	chr17:45214523-45215013	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv5454	chr17:45214556-45216243	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv962405	chr17:45214587-45218734	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3357949	chr17:45214596-45216193	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3322820	chr17:45214612-45216165	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3498554	chr17:45214622-45216138	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3498555	chr17:45214622-45216138	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr17:45206400-45215200	Weak transcription	Brain Germinal Matrix	brain
3	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:45212600-45214800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr17:45212800-45214800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr17:45212800-45214800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr17:45212800-45214800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:45212800-45214800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45212800-45214800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:45212800-45214800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:45212800-45214800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr17:45212800-45214800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr17:45212800-45214800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr17:45212800-45214800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45212800-45214800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr17:45212800-45214800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr17:45212800-45214800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr17:45212800-45214800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:45212800-45214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:45212800-45214800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:45212800-45214800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:45212800-45214800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:45212800-45214800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:45212800-45214800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr17:45212800-45214800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr17:45212800-45214800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr17:45212800-45214800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
33	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
34	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
36	chr17:45212800-45214800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr17:45212800-45214800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr17:45212800-45214800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45212800-45214800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:45212800-45214800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:45212800-45214800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:45212800-45214800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr17:45212800-45214800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr17:45212800-45214800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr17:45212800-45214800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:45212800-45214800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr17:45212800-45214800	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr17:45212800-45214800	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr17:45212800-45214800	ZNF genes & repeats	Brain Cingulate Gyrus	brain

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