Variant report

Variant	rs552230435
Chromosome Location	chr1:45265191-45265192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:45265161-45266896	K562	blood:	n/a	n/a
2	EP300	chr1:45265173-45266148	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265815
3	SP1	chr1:45265142-45266207	H1-hESC	embryonic stem cell:	n/a	chr1:45265870-45265879 chr1:45265894-45265908 chr1:45265866-45265880 chr1:45265966-45265978 chr1:45265525-45265538 chr1:45265995-45266004 chr1:45265966-45265978 chr1:45265870-45265880 chr1:45265869-45265881 chr1:45265967-45265976 chr1:45265869-45265881 chr1:45265871-45265880 chr1:45265963-45265977 chr1:45265968-45265977 chr1:45265624-45265638
4	MAX	chr1:45265175-45266717	A549	lung:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
5	TEAD4	chr1:45265172-45266017	HepG2	liver:	n/a	n/a
6	SMC3	chr1:45265156-45266312	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr1:45265155-45266869	SK-N-SH	brain:	n/a	chr1:45266471-45266481 chr1:45265801-45265814
8	NR2F2	chr1:45265134-45266191	K562	blood:	n/a	n/a
9	TRIM28	chr1:45265127-45266275	K562	blood:	n/a	n/a
10	PML	chr1:45265139-45266414	GM12878	blood:	n/a	n/a
11	HCFC1	chr1:45265177-45266977	Hela-S3	cervix:	n/a	n/a
12	MAX	chr1:45265179-45266906	HCT-116	colon:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
13	MXI1	chr1:45265052-45266918	SK-N-SH	brain:	n/a	chr1:45265665-45265680
14	CTCF	chr1:45265175-45266388	SK-N-SH	brain:	n/a	chr1:45265802-45265815
15	TCF12	chr1:45265174-45266201	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265806
16	POLR2A	chr1:45265036-45267289	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:45265151-45266841	HCT-116	colon:	n/a	n/a
18	POLR2A	chr1:45265180-45266774	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr1:45265152-45266286	A549	lung:	n/a	chr1:45265802-45265815
20	RAD21	chr1:45265159-45266372	HCT-116	colon:	n/a	chr1:45265801-45265814

No.	Distal block	Cell Line	Cell type
1	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
2	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
3	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
4	chr1:45181918..45183928-chr1:45263993..45265560,2	MCF-7	breast:
5	chr1:45239518..45243020-chr1:45264375..45267077,6	MCF-7	breast:
6	chr1:45186900..45187762-chr1:45265179..45266129,2	HCT-116	colon:
7	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
8	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
9	chr1:45264331..45265874-chr1:46048752..46050631,2	K562	blood:
10	chr1:45265177..45266001-chr17:57915257..57916253,2	HCT-116	colon:
11	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
12	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
13	chr1:45265136..45265830-chr1:45301261..45301917,2	K562	blood:
14	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
15	chr1:45264331..45266422-chr1:46049131..46050804,3	K562	blood:
16	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
17	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
18	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
19	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
20	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000200913	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000264294	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	nsv546147	chr1:45264874-45271097	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
15	esv3404071	chr1:45264890-45267738	Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45265200	Weak transcription	Right Atrium	heart
2	chr1:45252400-45265600	Weak transcription	Gastric	stomach
3	chr1:45256000-45265200	Weak transcription	NHEK	skin
4	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:45259400-45265200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:45259400-45265200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:45259600-45265200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:45259600-45265200	Weak transcription	Osteobl	bone
11	chr1:45259800-45265200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:45264000-45265200	Enhancers	HepG2	liver
13	chr1:45264200-45265200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:45264200-45265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:45264200-45265200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:45264200-45265200	Enhancers	HMEC	breast
17	chr1:45264200-45265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:45264200-45265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:45264200-45265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:45264400-45265200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:45264400-45265200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:45264400-45265200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr1:45264400-45265200	Enhancers	A549	lung
24	chr1:45264400-45265200	Enhancers	Dnd41	blood
25	chr1:45264400-45265400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:45264400-45265400	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:45264400-45265400	Enhancers	Liver	Liver
28	chr1:45264600-45265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:45264600-45265200	Enhancers	Primary B cells from cord blood	blood
30	chr1:45264600-45265200	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:45264600-45265200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:45264600-45265200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:45264600-45265200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:45264600-45265200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:45264600-45265200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:45264600-45265200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:45264600-45265200	Enhancers	Fetal Intestine Large	intestine
38	chr1:45264600-45265200	Enhancers	Fetal Intestine Small	intestine
39	chr1:45264600-45265200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:45264600-45265200	Enhancers	Pancreas	Pancrea
41	chr1:45264600-45265200	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:45264600-45265200	Enhancers	Hela-S3	cervix
43	chr1:45264600-45265200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:45264600-45265400	Enhancers	NH-A	brain
45	chr1:45264600-45265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:45264600-45265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:45264600-45265600	Enhancers	HSMMtube	muscle
48	chr1:45264600-45265600	Enhancers	NHLF	lung
49	chr1:45264800-45265200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:45264800-45265200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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