Variant report

Variant	rs201809150
Chromosome Location	chr1:45265240-45265241
allele	-/G
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	SP4	chr1:45265220-45266113	H1-hESC	embryonic stem cell:	n/a	chr1:45265929-45265945 chr1:45265867-45265883 chr1:45265962-45265978 chr1:45265865-45265881
2	JUN	chr1:45265161-45266896	K562	blood:	n/a	n/a
3	TCF12	chr1:45265192-45266292	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265806
4	YY1	chr1:45265221-45265995	H1-hESC	embryonic stem cell:	n/a	chr1:45265847-45265861
5	EP300	chr1:45265173-45266148	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265815
6	POLR2A	chr1:45265226-45266314	SK-N-MC	brain:	n/a	n/a
7	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
8	ATF2	chr1:45265212-45266007	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr1:45265200-45265968	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr1:45265233-45266636	HCT-116	colon:	n/a	chr1:45266471-45266481 chr1:45265801-45265814
11	TEAD4	chr1:45265204-45266039	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:45265232-45266424	GM12892	blood:	n/a	n/a
13	MAX	chr1:45265175-45266717	A549	lung:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
14	E2F6	chr1:45265201-45266479	H1-hESC	embryonic stem cell:	n/a	chr1:45265870-45265879
15	MAX	chr1:45265231-45266246	SK-N-SH	brain:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
16	TEAD4	chr1:45265172-45266017	HepG2	liver:	n/a	n/a
17	SMC3	chr1:45265156-45266312	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:45265234-45266720	U87	brain:	n/a	n/a
19	MAX	chr1:45265205-45266413	ECC-1	luminal epithelium:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
20	SP1	chr1:45265207-45266205	A549	lung:	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
21	RAD21	chr1:45265203-45265907	A549	lung:	n/a	chr1:45265801-45265814
22	RAD21	chr1:45265155-45266869	SK-N-SH	brain:	n/a	chr1:45266471-45266481 chr1:45265801-45265814
23	NR2F2	chr1:45265134-45266191	K562	blood:	n/a	n/a
24	TRIM28	chr1:45265127-45266275	K562	blood:	n/a	n/a
25	TCF12	chr1:45265234-45265938	H1-hESC	embryonic stem cell:	n/a	chr1:45265799-45265806
26	HDAC2	chr1:45265222-45266099	MCF-7	breast:	n/a	n/a
27	PML	chr1:45265139-45266414	GM12878	blood:	n/a	n/a
28	HCFC1	chr1:45265177-45266977	Hela-S3	cervix:	n/a	n/a
29	ZBTB7A	chr1:45265206-45266107	ECC-1	luminal epithelium:	n/a	n/a
30	NFIC	chr1:45265219-45266185	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr1:45265212-45266328	A549	lung:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
32	SIN3AK20	chr1:45265231-45266425	MCF-7	breast:	n/a	n/a
33	MTA3	chr1:45265208-45266896	GM12878	blood:	n/a	n/a
34	RAD21	chr1:45265225-45266317	H1-hESC	embryonic stem cell:	n/a	chr1:45265801-45265814
35	POLR2A	chr1:45265240-45266873	H1-hESC	embryonic stem cell:	n/a	n/a
36	YY1	chr1:45265240-45266331	HepG2	liver:	n/a	chr1:45265847-45265861
37	MAX	chr1:45265211-45266713	H1-hESC	embryonic stem cell:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
38	SIX5	chr1:45265230-45266004	A549	lung:	n/a	n/a
39	REST	chr1:45265204-45266974	H1-neurons	neurons:	n/a	chr1:45265623-45265636 chr1:45265895-45265908 chr1:45265293-45265306 chr1:45266031-45266044
40	CTCF	chr1:45265227-45265918	MCF-7	breast:	n/a	chr1:45265802-45265815
41	MAX	chr1:45265179-45266906	HCT-116	colon:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
42	MAX	chr1:45265224-45266409	HCT-116	colon:	n/a	chr1:45265561-45265568 chr1:45265623-45265633
43	MXI1	chr1:45265052-45266918	SK-N-SH	brain:	n/a	chr1:45265665-45265680
44	POLR2A	chr1:45265236-45266414	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:45265236-45266954	K562	blood:	n/a	n/a
46	CTCF	chr1:45265175-45266388	SK-N-SH	brain:	n/a	chr1:45265802-45265815
47	TCF12	chr1:45265174-45266201	ECC-1	luminal epithelium:	n/a	chr1:45265799-45265806
48	TEAD4	chr1:45265220-45266249	K562	blood:	n/a	n/a
49	POLR2A	chr1:45265036-45267289	HepG2	liver:	n/a	n/a
50	MYC	chr1:45265218-45266455	A549	lung:	n/a	chr1:45265561-45265568 chr1:45265623-45265633

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	chr1:45265198..45265799-chr1:45280406..45281268,2	MCF-7	breast:
17	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
18	chr1:45264355..45267553-chr1:45476139..45481796,8	K562	blood:
19	chr1:45264684..45267553-chr1:45478723..45482931,4	MCF-7	breast:
20	chr1:45248852..45254229-chr1:45263166..45267959,10	MCF-7	breast:
21	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

Variant related genes	Relation type
PLK3	TF binding region
ENSG00000142959	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000207421	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45252400-45265600	Weak transcription	Gastric	stomach
2	chr1:45259200-45265400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:45259200-45265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:45259400-45265400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:45264200-45265400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:45264200-45265600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:45264200-45265600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:45264400-45265400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:45264400-45265400	Enhancers	Primary B cells from peripheral blood	blood
10	chr1:45264400-45265400	Enhancers	Liver	Liver
11	chr1:45264600-45265400	Enhancers	NH-A	brain
12	chr1:45264600-45265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:45264600-45265600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:45264600-45265600	Enhancers	HSMMtube	muscle
15	chr1:45264600-45265600	Enhancers	NHLF	lung
16	chr1:45264800-45265400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:45264800-45265400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:45264800-45265400	Enhancers	Placenta	Placenta
19	chr1:45264800-45265800	Enhancers	Fetal Brain Male	brain
20	chr1:45264800-45265800	Enhancers	Fetal Heart	heart
21	chr1:45265000-45265400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:45265000-45265400	Weak transcription	Esophagus	oesophagus
23	chr1:45265000-45265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:45265000-45265600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:45265000-45265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:45265000-45265600	Weak transcription	Lung	lung
27	chr1:45265200-45265400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:45265200-45265400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:45265200-45265400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:45265200-45265400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:45265200-45265400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:45265200-45265400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:45265200-45265400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:45265200-45265400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:45265200-45265400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:45265200-45265400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr1:45265200-45265400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:45265200-45265400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:45265200-45265400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:45265200-45265400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:45265200-45265400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:45265200-45265400	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:45265200-45265400	Enhancers	Colonic Mucosa	Colon
44	chr1:45265200-45265400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr1:45265200-45265400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:45265200-45265400	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr1:45265200-45265400	Weak transcription	Pancreas	Pancrea
48	chr1:45265200-45265400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:45265200-45265400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:45265200-45265400	Flanking Active TSS	Stomach Smooth Muscle	stomach

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