Variant report

Variant	rs547237171
Chromosome Location	chr1:45266020-45266021
allele	-/A
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	POLR2A	chr1:45265897-45266245	A549	lung:	n/a	n/a
4	SMARCB1	chr1:45265360-45266787	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr1:45265945-45266150	Lung_OC	lung:	n/a	n/a
6	SP4	chr1:45265220-45266113	H1-hESC	embryonic stem cell:	n/a	chr1:45265929-45265945 chr1:45265867-45265883 chr1:45265962-45265978 chr1:45265865-45265881
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	JUN	chr1:45265161-45266896	K562	blood:	n/a	n/a
10	STAT1	chr1:45265371-45266266	GM12878	blood:	n/a	chr1:45265928-45265940 chr1:45265731-45265743
11	POLR2A	chr1:45265302-45266313	K562	blood:	n/a	n/a
12	MXI1	chr1:45265270-45266876	IMR90	lung:	n/a	chr1:45265665-45265680
13	CBX3	chr1:45265268-45266255	K562	blood:	n/a	n/a
14	TCF12	chr1:45265192-45266292	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265806
15	BCLAF1	chr1:45265358-45266202	K562	blood:	n/a	chr1:45265618-45265627
16	POLR2A	chr1:45265694-45266167	K562	blood:	n/a	n/a
17	CEBPB	chr1:45265285-45266148	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr1:45265457-45266209	HepG2	liver:	n/a	n/a
19	CTCF	chr1:45265940-45266090	AG04449	skin:	n/a	n/a
20	YY1	chr1:45265357-45266315	GM12891	blood:	n/a	chr1:45265847-45265861
21	TAF1	chr1:45265652-45266207	GM12891	blood:	n/a	n/a
22	EGR1	chr1:45265435-45266140	GM12878	blood:	n/a	chr1:45265996-45266009 chr1:45265865-45265878
23	GTF2F1	chr1:45265347-45266147	Hela-S3	cervix:	n/a	n/a
24	ELK1	chr1:45265446-45266132	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr1:45265285-45266268	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr1:45265332-45266295	HepG2	liver:	n/a	n/a
27	FOXM1	chr1:45265242-45266152	GM12878	blood:	n/a	n/a
28	CTCF	chr1:45265960-45266110	GM12866	blood:	n/a	n/a
29	MXI1	chr1:45265351-45266359	GM12878	blood:	n/a	chr1:45265665-45265680
30	POLR2A	chr1:45265301-45266849	K562	blood:	n/a	n/a
31	CTCF	chr1:45265960-45266131	K562	blood:	n/a	n/a
32	CHD1	chr1:45265265-45266961	IMR90	lung:	n/a	chr1:45265863-45265873 chr1:45266636-45266646
33	NFATC1	chr1:45265297-45266232	GM12878	blood:	n/a	n/a
34	ZBTB7A	chr1:45265327-45266068	ECC-1	luminal epithelium:	n/a	n/a
35	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
36	RFX5	chr1:45265343-45266274	Hela-S3	cervix:	n/a	chr1:45265661-45265676 chr1:45265665-45265674
37	POLR2A	chr1:45265568-45266172	SK-N-MC	brain:	n/a	n/a
38	E2F4	chr1:45265333-45266227	K562	blood:	n/a	chr1:45265870-45265879
39	EP300	chr1:45265173-45266148	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265815
40	CTCF	chr1:45265960-45266110	Hela-S3	cervix:	n/a	n/a
41	NFYB	chr1:45265578-45266066	GM12878	blood:	n/a	n/a
42	FOS	chr1:45265380-45266055	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr1:45265395-45266652	GM15510	blood:	n/a	n/a
44	TCF3	chr1:45265432-45266345	GM12878	blood:	n/a	n/a
45	JUND	chr1:45265328-45266226	K562	blood:	n/a	n/a
46	HMGN3	chr1:45265381-45266768	K562	blood:	n/a	n/a
47	HDAC2	chr1:45265419-45266027	K562	blood:	n/a	n/a
48	YY1	chr1:45265948-45266131	HCT-116	colon:	n/a	n/a
49	POLR2A	chr1:45265226-45266314	SK-N-MC	brain:	n/a	n/a
50	MXI1	chr1:45265363-45266235	Hela-S3	cervix:	n/a	chr1:45265665-45265680

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	chr1:45265655..45266334-chr5:36242016..36242588,2	Hela-S3	cervix:
5	chr1:45265800..45266493-chr17:80415987..80416840,2	HCT-116	colon:
6	chr1:45194731..45198369-chr1:45262951..45267593,8	MCF-7	breast:
7	chr1:45186012..45189065-chr1:45262922..45268915,8	MCF-7	breast:
8	chr1:45239518..45243020-chr1:45264375..45267077,6	MCF-7	breast:
9	chr1:45265977..45266790-chr15:50715807..50716660,2	NB4	blood:
10	chr1:45187283..45187917-chr1:45265572..45266144,2	Hela-S3	cervix:
11	chr1:45265981..45266505-chr1:45284999..45285671,2	MCF-7	breast:
12	chr1:45186900..45187762-chr1:45265179..45266129,2	HCT-116	colon:
13	chr1:45265584..45266413-chr19:2475648..2476435,2	Hela-S3	cervix:
14	chr1:45262923..45267744-chr1:45767225..45772183,8	K562	blood:
15	chr1:45138566..45141370-chr1:45265919..45267652,2	K562	blood:
16	chr1:45194156..45199355-chr1:45264282..45268731,9	MCF-7	breast:
17	chr1:45096184..45099066-chr1:45264568..45266380,3	K562	blood:
18	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
19	chr1:45265558..45267516-chr1:45964222..45967034,2	K562	blood:
20	chr1:45265814..45266510-chr22:43011068..43011923,2	Hela-S3	cervix:
21	chr1:45265774..45266362-chr16:14726177..14727160,2	NB4	blood:
22	chr1:45239609..45242950-chr1:45264036..45267552,6	MCF-7	breast:
23	chr1:45264331..45266422-chr1:46049131..46050804,3	K562	blood:
24	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
25	chr1:11967954..11968956-chr1:45265688..45266550,3	HCT-116	colon:
26	chr1:45265336..45266309-chr6:30711836..30712356,2	Hela-S3	cervix:
27	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
28	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
29	chr1:45265570..45266360-chr8:144623434..144624245,2	Hela-S3	cervix:
30	chr1:45265377..45266088-chr5:172754663..172755525,2	Hela-S3	cervix:
31	chr1:45210802..45212965-chr1:45265931..45268698,2	K562	blood:
32	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
33	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000126107	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000141562	Chromatin interaction
ENSG00000265458	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000134153	Chromatin interaction
ENSG00000182405	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000103429	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000126106	Chromatin interaction
ENSG00000014164	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000140694	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000152620	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000113739	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000099860	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265200-45266400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:45265200-45266400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:45265200-45266400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:45265200-45266400	Active TSS	Brain Anterior Caudate	brain
5	chr1:45265200-45266400	Active TSS	Brain Hippocampus Middle	brain
6	chr1:45265200-45266400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr1:45265200-45266600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:45265200-45266600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:45265200-45266600	Active TSS	Fetal Lung	lung
10	chr1:45265200-45267200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:45265200-45267200	Active TSS	Fetal Kidney	kidney
12	chr1:45265200-45267600	Active TSS	Primary T cells from cord blood	blood
13	chr1:45265200-45267600	Active TSS	Brain Angular Gyrus	brain
14	chr1:45265200-45267600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:45265200-45267600	Active TSS	Brain Substantia Nigra	brain
16	chr1:45265200-45267600	Active TSS	Fetal Brain Female	brain
17	chr1:45265200-45267600	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:45265200-45267600	Active TSS	Right Ventricle	heart
19	chr1:45265200-45267600	Active TSS	Thymus	Thymus
20	chr1:45265200-45267600	Active TSS	HSMM	muscle
21	chr1:45265200-45267800	Active TSS	Colon Smooth Muscle	Colon
22	chr1:45265200-45268200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr1:45265400-45266200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:45265400-45266200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:45265400-45266200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:45265400-45266400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:45265400-45266400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr1:45265400-45266400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr1:45265400-45266400	Active TSS	Pancreas	Pancrea
30	chr1:45265400-45266400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr1:45265400-45266600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:45265400-45266600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:45265400-45266600	Active TSS	GM12878-XiMat	blood
34	chr1:45265400-45266600	Active TSS	HepG2	liver
35	chr1:45265400-45266800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr1:45265400-45267200	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr1:45265400-45267200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr1:45265400-45267200	Active TSS	Brain Cingulate Gyrus	brain
39	chr1:45265400-45267200	Active TSS	NHEK	skin
40	chr1:45265400-45267400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:45265400-45267400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr1:45265400-45267400	Active TSS	Fetal Intestine Large	intestine
43	chr1:45265400-45267600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:45265400-45267600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:45265400-45267600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:45265400-45267600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:45265400-45267600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:45265400-45267600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:45265400-45267600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr1:45265400-45267600	Active TSS	Muscle Satellite Cultured Cells	--

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