Variant report

Variant	rs201519931
Chromosome Location	chr17:45235636-45235637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:137)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:137 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45235580-45235730	GM12872	blood:	n/a	n/a
2	BACH1	chr17:45235402-45235840	K562	blood:	n/a	n/a
3	CTCF	chr17:45235500-45235650	GM12875	blood:	n/a	n/a
4	ATF1	chr17:45235405-45235833	K562	blood:	n/a	n/a
5	CTCF	chr17:45235540-45235690	BE2_C	brain:	n/a	n/a
6	RFX5	chr17:45235401-45235836	GM12878	blood:	n/a	n/a
7	CTCF	chr17:45235520-45235670	HFF-Myc	foreskin:	n/a	n/a
8	IRF3	chr17:45235410-45235836	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr17:45235520-45235670	GM12869	blood:	n/a	n/a
10	CTCF	chr17:45235500-45235650	GM12872	blood:	n/a	n/a
11	CTCF	chr17:45235520-45235670	HCM	heart:	n/a	n/a
12	CTCF	chr17:45235520-45235670	HCT-116	colon:	n/a	n/a
13	CHD1	chr17:45235411-45235837	GM12878	blood:	n/a	n/a
14	CTCF	chr17:45235500-45235650	HPF	lung:	n/a	n/a
15	CTCF	chr17:45235520-45235670	MCF-7	breast:	n/a	n/a
16	ZNF274	chr17:45235410-45235785	H1-hESC	embryonic stem cell:	n/a	n/a
17	RCOR1	chr17:45235402-45235836	Hela-S3	cervix:	n/a	n/a
18	E2F4	chr17:45235410-45235833	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr17:45235500-45235650	AG04450	lung:	n/a	n/a
20	CTCF	chr17:45235500-45235650	GM12801	blood:	n/a	n/a
21	CTCF	chr17:45235520-45235670	NHDF-neo	bronchial:	n/a	n/a
22	CTCF	chr17:45235500-45235650	HPAF	blood vessel:	n/a	n/a
23	NFYB	chr17:45235462-45235776	GM12878	blood:	n/a	n/a
24	CTCF	chr17:45235500-45235650	Caco-2	colon:	n/a	n/a
25	CTCF	chr17:45235520-45235670	NB4	blood:	n/a	n/a
26	BRF2	chr17:45235420-45235825	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr17:45235500-45235650	GM12865	blood:	n/a	n/a
28	ZZZ3	chr17:45235409-45235829	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr17:45235404-45235836	A549	lung:	n/a	n/a
30	CTCF	chr17:45235540-45235690	GM12875	blood:	n/a	n/a
31	CTCF	chr17:45235560-45235710	RPTEC	kidney:	n/a	n/a
32	ZNF274	chr17:45235407-45235831	GM12878	blood:	n/a	n/a
33	ZZZ3	chr17:45235416-45235829	GM12878	blood:	n/a	n/a
34	GATA3	chr17:45235419-45235869	SH-SY5Y	brain:	n/a	chr17:45235514-45235524
35	IRF3	chr17:45235403-45235841	GM12878	blood:	n/a	n/a
36	STAT3	chr17:45235204-45235777	MCF10A-Er-Src	breast:	n/a	chr17:45235382-45235390
37	CEBPB	chr17:45235398-45235838	K562	blood:	n/a	n/a
38	MAZ	chr17:45235412-45235841	GM12878	blood:	n/a	n/a
39	CTCF	chr17:45235520-45235670	BE2_C	brain:	n/a	n/a
40	BRCA1	chr17:45235405-45235836	Hela-S3	cervix:	n/a	n/a
41	ZNF274	chr17:45235405-45235835	GM08714	blood:	n/a	n/a
42	CTCF	chr17:45235520-45235670	NHLF	lung:	n/a	n/a
43	ZNF143	chr17:45235403-45235837	K562	blood:	n/a	n/a
44	CTCF	chr17:45235540-45235690	WI-38	lung:	n/a	n/a
45	CTCF	chr17:45235520-45235670	GM12873	blood:	n/a	n/a
46	CTCF	chr17:45235520-45235670	HAc	cerebellar:	n/a	n/a
47	CTCF	chr17:45235540-45235690	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr17:45235540-45235690	HA-sp	spinal cord:	n/a	n/a
49	E2F4	chr17:45235409-45235830	GM12878	blood:	n/a	n/a
50	CTCF	chr17:45235540-45235690	GM12868	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45235479..45238611-chr17:45239349..45243601,4	K562	blood:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45234310..45237087-chr2:133018866..133020562,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000178852	Chromatin interaction
ENSG00000233786	Chromatin interaction
ENSG00000262265	Chromatin interaction
ENSG00000263293	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
4	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
5	esv3447993	chr17:45234379-45235651	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	esv3401397	chr17:45234611-45235674	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3380182	chr17:45234618-45235650	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3411381	chr17:45234634-45235681	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3408242	chr17:45235345-45237851	Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
10	esv3325368	chr17:45235562-45247410	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3393378	chr17:45235569-45249387	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv5729	chr17:45235587-45249403	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3384942	chr17:45235611-45244927	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3431533	chr17:45235611-45247332	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3364168	chr17:45235631-45247302	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3422702	chr17:45235632-45247304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr17:45231600-45236200	Weak transcription	Brain Germinal Matrix	brain
2	chr17:45234200-45235800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45234200-45235800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:45234200-45235800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr17:45234200-45235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr17:45234200-45235800	ZNF genes & repeats	Dnd41	blood
7	chr17:45234200-45235800	ZNF genes & repeats	Hela-S3	cervix
8	chr17:45234200-45235800	ZNF genes & repeats	HMEC	breast
9	chr17:45234200-45235800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr17:45234200-45235800	ZNF genes & repeats	Osteobl	bone
11	chr17:45234400-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:45234400-45236000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:45234400-45236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45234600-45235800	Weak transcription	Fetal Brain Female	brain
15	chr17:45234600-45236000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr17:45234600-45249200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:45234600-45249400	Strong transcription	A549	lung
18	chr17:45235200-45247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:45235400-45235800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr17:45235400-45235800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr17:45235400-45235800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr17:45235400-45235800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:45235400-45235800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr17:45235400-45235800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:45235400-45235800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr17:45235400-45235800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:45235400-45235800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:45235400-45235800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr17:45235400-45235800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr17:45235400-45235800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr17:45235400-45235800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr17:45235400-45235800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr17:45235400-45235800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:45235400-45235800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:45235400-45235800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:45235400-45235800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:45235400-45235800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:45235400-45235800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr17:45235400-45235800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr17:45235400-45235800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr17:45235400-45235800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
42	chr17:45235400-45235800	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr17:45235400-45235800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr17:45235400-45235800	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr17:45235400-45235800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
46	chr17:45235400-45235800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr17:45235400-45235800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr17:45235400-45235800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
49	chr17:45235400-45235800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr17:45235400-45235800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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