Variant report

Variant	rs534924967
Chromosome Location	chr1:45265565-45265566
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	MXI1	chr1:45265328-45266640	HepG2	liver:	n/a	chr1:45265665-45265680
2	POLR2A	chr1:45265300-45266221	GM12891	blood:	n/a	n/a
3	SMARCB1	chr1:45265360-45266787	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr1:45265333-45265727	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP4	chr1:45265220-45266113	H1-hESC	embryonic stem cell:	n/a	chr1:45265929-45265945 chr1:45265867-45265883 chr1:45265962-45265978 chr1:45265865-45265881
6	CTCFL	chr1:45265408-45265593	K562	blood:	n/a	n/a
7	YY1	chr1:45265274-45266777	GM12892	blood:	n/a	chr1:45265847-45265861
8	BRCA1	chr1:45265342-45266162	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr1:45265316-45265688	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUN	chr1:45265161-45266896	K562	blood:	n/a	n/a
11	STAT1	chr1:45265371-45266266	GM12878	blood:	n/a	chr1:45265928-45265940 chr1:45265731-45265743
12	POLR2A	chr1:45265302-45266313	K562	blood:	n/a	n/a
13	MXI1	chr1:45265270-45266876	IMR90	lung:	n/a	chr1:45265665-45265680
14	CBX3	chr1:45265268-45266255	K562	blood:	n/a	n/a
15	CTCF	chr1:45265368-45265671	Pancreas_OC	pancreas:	n/a	n/a
16	TCF12	chr1:45265192-45266292	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265806
17	RAD21	chr1:45265348-45265722	SK-N-SH_RA	brain:	n/a	n/a
18	BCLAF1	chr1:45265358-45266202	K562	blood:	n/a	chr1:45265618-45265627
19	CTCF	chr1:45265390-45265705	A549	lung:	n/a	n/a
20	CEBPB	chr1:45265285-45266148	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr1:45265358-45265716	K562	blood:	n/a	n/a
22	CEBPB	chr1:45265457-45266209	HepG2	liver:	n/a	n/a
23	YY1	chr1:45265357-45266315	GM12891	blood:	n/a	chr1:45265847-45265861
24	EGR1	chr1:45265435-45266140	GM12878	blood:	n/a	chr1:45265996-45266009 chr1:45265865-45265878
25	GTF2F1	chr1:45265347-45266147	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr1:45265460-45265610	NHEK	skin:	n/a	n/a
27	ELK1	chr1:45265446-45266132	Hela-S3	cervix:	n/a	n/a
28	SMC3	chr1:45265285-45266268	Hela-S3	cervix:	n/a	n/a
29	TAF1	chr1:45265332-45266295	HepG2	liver:	n/a	n/a
30	FOXM1	chr1:45265242-45266152	GM12878	blood:	n/a	n/a
31	CTCF	chr1:45265460-45265610	GM12872	blood:	n/a	n/a
32	MXI1	chr1:45265351-45266359	GM12878	blood:	n/a	chr1:45265665-45265680
33	MTA3	chr1:45265243-45265852	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:45265301-45266849	K562	blood:	n/a	n/a
35	TAF7	chr1:45265418-45265888	K562	blood:	n/a	n/a
36	CHD1	chr1:45265265-45266961	IMR90	lung:	n/a	chr1:45265863-45265873 chr1:45266636-45266646
37	NFATC1	chr1:45265297-45266232	GM12878	blood:	n/a	n/a
38	CTCF	chr1:45265440-45265590	GM12866	blood:	n/a	n/a
39	CEBPB	chr1:45265336-45265906	GM12878	blood:	n/a	n/a
40	YY1	chr1:45265221-45265995	H1-hESC	embryonic stem cell:	n/a	chr1:45265847-45265861
41	ZBTB7A	chr1:45265327-45266068	ECC-1	luminal epithelium:	n/a	n/a
42	TFAP2A	chr1:45265286-45266114	Hela-S3	cervix:	n/a	chr1:45265854-45265862 chr1:45265306-45265314 chr1:45265538-45265546 chr1:45265853-45265861 chr1:45265852-45265863 chr1:45265535-45265547 chr1:45265854-45265862 chr1:45265852-45265863 chr1:45265854-45265862 chr1:45265306-45265314 chr1:45265538-45265546 chr1:45265852-45265863 chr1:45265537-45265552 chr1:45265853-45265861 chr1:45265465-45265473 chr1:45265852-45265863 chr1:45265853-45265861 chr1:45265306-45265314 chr1:45265538-45265546 chr1:45265462-45265474 chr1:45265852-45265863
43	CTCF	chr1:45265364-45265644	HepG2	liver:	n/a	n/a
44	CTCF	chr1:45265460-45265610	A549	lung:	n/a	n/a
45	CTCF	chr1:45265371-45265712	ECC-1	luminal epithelium:	n/a	n/a
46	RFX5	chr1:45265343-45266274	Hela-S3	cervix:	n/a	chr1:45265661-45265676 chr1:45265665-45265674
47	CTCF	chr1:45265367-45265678	Gliobla	brain:	n/a	n/a
48	E2F4	chr1:45265333-45266227	K562	blood:	n/a	chr1:45265870-45265879
49	EP300	chr1:45265173-45266148	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265815
50	FOS	chr1:45265380-45266055	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45205245..45207359-chr1:45265556..45268016,2	MCF-7	breast:
2	chr1:45264279..45267905-chr1:45476139..45480748,9	K562	blood:
3	chr1:45265565..45266510-chr15:34394011..34394570,2	Hela-S3	cervix:
4	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
5	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
6	chr1:45239518..45243020-chr1:45264375..45267077,6	MCF-7	breast:
7	chr1:45186900..45187762-chr1:45265179..45266129,2	HCT-116	colon:
8	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
9	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
10	chr1:45264331..45265874-chr1:46048752..46050631,2	K562	blood:
11	chr1:45265177..45266001-chr17:57915257..57916253,2	HCT-116	colon:
12	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
13	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
14	chr1:45265421..45266018-chrX:48815336..48816261,2	Hela-S3	cervix:
15	chr1:45265136..45265830-chr1:45301261..45301917,2	K562	blood:
16	chr1:45265558..45267516-chr1:45964222..45967034,2	K562	blood:
17	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
18	chr1:45264331..45266422-chr1:46049131..46050804,3	K562	blood:
19	chr1:45265198..45265799-chr1:45280406..45281268,2	MCF-7	breast:
20	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
21	chr1:45265336..45266309-chr6:30711836..30712356,2	Hela-S3	cervix:
22	chr1:45265243..45265912-chr11:62609117..62609617,2	HCT-116	colon:
23	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
24	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
25	chr1:45265377..45266088-chr5:172754663..172755525,2	Hela-S3	cervix:
26	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
27	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000264294	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000068308	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000199377	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45265600	Weak transcription	Gastric	stomach
2	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:45264200-45265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:45264200-45265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:45264600-45265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:45264600-45265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:45264600-45265600	Enhancers	HSMMtube	muscle
8	chr1:45264600-45265600	Enhancers	NHLF	lung
9	chr1:45264800-45265800	Enhancers	Fetal Brain Male	brain
10	chr1:45264800-45265800	Enhancers	Fetal Heart	heart
11	chr1:45265000-45265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:45265000-45265600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:45265000-45265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:45265000-45265600	Weak transcription	Lung	lung
15	chr1:45265200-45265600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr1:45265200-45265600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr1:45265200-45265600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr1:45265200-45265600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:45265200-45265600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:45265200-45265600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:45265200-45265600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr1:45265200-45265600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:45265200-45265600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:45265200-45265600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr1:45265200-45265600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:45265200-45265600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:45265200-45265600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr1:45265200-45265600	Active TSS	Brain Germinal Matrix	brain
29	chr1:45265200-45265600	Flanking Active TSS	Fetal Intestine Small	intestine
30	chr1:45265200-45265600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr1:45265200-45265600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr1:45265200-45265600	Flanking Active TSS	Fetal Stomach	stomach
33	chr1:45265200-45265600	Active TSS	Right Atrium	heart
34	chr1:45265200-45265600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:45265200-45265600	Flanking Active TSS	Dnd41	blood
36	chr1:45265200-45265600	Flanking Active TSS	K562	blood
37	chr1:45265200-45265600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr1:45265200-45265600	Enhancers	NHDF-Ad	bronchial
39	chr1:45265200-45265800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr1:45265200-45265800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr1:45265200-45265800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr1:45265200-45265800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:45265200-45265800	Flanking Active TSS	Fetal Thymus	thymus
44	chr1:45265200-45265800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:45265200-45266400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr1:45265200-45266400	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:45265200-45266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:45265200-45266400	Active TSS	Brain Anterior Caudate	brain
49	chr1:45265200-45266400	Active TSS	Brain Hippocampus Middle	brain
50	chr1:45265200-45266400	Active TSS	Brain Inferior Temporal Lobe	brain

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