Variant report

Variant	rs557752059
Chromosome Location	chr1:151432301-151432302
allele	A/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	ZC3H11A	chr1:151431892-151432467	K562	blood:	n/a	n/a
2	SP1	chr1:151431436-151432409	A549	lung:	n/a	chr1:151431868-151431878 chr1:151431720-151431732 chr1:151431710-151431724 chr1:151431721-151431730 chr1:151431843-151431855 chr1:151431590-151431602 chr1:151431845-151431854 chr1:151431868-151431877 chr1:151431979-151431990 chr1:151431864-151431878 chr1:151431717-151431731 chr1:151431867-151431879 chr1:151431844-151431854 chr1:151431867-151431879 chr1:151431840-151431854 chr1:151431844-151431853 chr1:151431723-151431737 chr1:151431843-151431855 chr1:151431591-151431600
3	E2F6	chr1:151431799-151432573	K562	blood:	n/a	chr1:151431844-151431853
4	HCFC1	chr1:151430201-151433371	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr1:151431758-151432558	K562	blood:	n/a	n/a
6	CHD2	chr1:151431435-151432372	GM12878	blood:	n/a	n/a
7	YY1	chr1:151431911-151432641	H1-hESC	embryonic stem cell:	n/a	chr1:151432438-151432446 chr1:151432352-151432364 chr1:151432353-151432361
8	YY1	chr1:151431842-151432408	HCT-116	colon:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151432352-151432364 chr1:151432353-151432361 chr1:151431845-151431856
9	YY1	chr1:151432113-151432508	GM12892	blood:	n/a	chr1:151432438-151432446 chr1:151432352-151432364 chr1:151432353-151432361
10	CHD1	chr1:151431989-151432515	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr1:151432157-151432443	H1-hESC	embryonic stem cell:	n/a	n/a
12	TEAD4	chr1:151431718-151432555	K562	blood:	n/a	n/a
13	REST	chr1:151432092-151432554	HL-60	blood:	n/a	n/a
14	USF2	chr1:151432119-151432434	Hela-S3	cervix:	n/a	n/a
15	NFYA	chr1:151431846-151432301	Hela-S3	cervix:	n/a	chr1:151432001-151432019
16	CREB1	chr1:151431855-151432514	K562	blood:	n/a	n/a
17	YY1	chr1:151432165-151432557	GM12878	blood:	n/a	chr1:151432438-151432446 chr1:151432352-151432364 chr1:151432353-151432361
18	MAZ	chr1:151430433-151432598	IMR90	lung:	n/a	chr1:151431861-151431871
19	MAX	chr1:151431501-151432439	NB4	blood:	n/a	chr1:151431861-151431871
20	MYC	chr1:151432014-151432470	H1-hESC	embryonic stem cell:	n/a	n/a
21	YY1	chr1:151431757-151432379	K562	blood:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151432352-151432364 chr1:151432353-151432361 chr1:151431845-151431856
22	IRF1	chr1:151431807-151432354	K562	blood:	n/a	chr1:151431843-151431857
23	POLR2A	chr1:151432205-151432561	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr1:151431166-151432449	ECC-1	luminal epithelium:	n/a	chr1:151431861-151431871
25	CTCF	chr1:151432034-151432310	K562	blood:	n/a	n/a
26	POLR2A	chr1:151432223-151432424	GM12878	blood:	n/a	n/a
27	SMC3	chr1:151431889-151432395	Hela-S3	cervix:	n/a	n/a
28	CREB1	chr1:151431444-151432548	HepG2	liver:	n/a	n/a
29	PML	chr1:151431720-151432391	K562	blood:	n/a	n/a
30	POLR2A	chr1:151431476-151432576	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr1:151431851-151432420	U87	brain:	n/a	n/a
32	MAX	chr1:151431465-151432464	K562	blood:	n/a	chr1:151431861-151431871
33	TBP	chr1:151431463-151432444	K562	blood:	n/a	n/a
34	POLR2A	chr1:151430420-151432339	GM18505	blood:	n/a	n/a
35	MAX	chr1:151431597-151432458	GM12878	blood:	n/a	chr1:151431861-151431871
36	POLR2A	chr1:151432207-151432378	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:151431794-151432423	HepG2	liver:	n/a	n/a
38	TBP	chr1:151431875-151432558	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr1:151431840-151432392	U87	brain:	n/a	n/a
40	MAX	chr1:151431332-151432522	A549	lung:	n/a	chr1:151431861-151431871
41	E2F6	chr1:151431857-151432574	A549	lung:	n/a	n/a
42	SIN3A	chr1:151431530-151432484	H1-hESC	embryonic stem cell:	n/a	chr1:151431905-151431918
43	SP1	chr1:151431723-151432301	H1-hESC	embryonic stem cell:	n/a	chr1:151431868-151431878 chr1:151431843-151431855 chr1:151431845-151431854 chr1:151431868-151431877 chr1:151431979-151431990 chr1:151431864-151431878 chr1:151431867-151431879 chr1:151431844-151431854 chr1:151431867-151431879 chr1:151431840-151431854 chr1:151431844-151431853 chr1:151431723-151431737 chr1:151431843-151431855
44	GABPA	chr1:151431551-151432731	MCF-7	breast:	n/a	chr1:151431844-151431853
45	POLR2A	chr1:151430521-151432495	Hela-S3	cervix:	n/a	n/a
46	MAX	chr1:151431464-151432535	HepG2	liver:	n/a	chr1:151431861-151431871
47	TBL1XR1	chr1:151431900-151432545	GM12878	blood:	n/a	n/a
48	MAX	chr1:151432174-151432550	K562	blood:	n/a	n/a
49	POLR2A	chr1:151430801-151432405	K562	blood:	n/a	n/a
50	MAX	chr1:151431763-151432624	H1-hESC	embryonic stem cell:	n/a	chr1:151431861-151431871

No.	Distal block	Cell Line	Cell type
1	chr1:151431169..151432846-chr1:151517361..151519624,3	MCF-7	breast:
2	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
3	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
4	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
5	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
6	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
7	chr1:151371183..151372890-chr1:151431011..151433472,2	MCF-7	breast:
8	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
9	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
10	chr1:151270824..151272634-chr1:151430532..151433338,2	MCF-7	breast:
11	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
12	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
13	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
14	chr1:151431826..151434593-chr1:151511133..151514053,3	K562	blood:
15	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
16	chr1:151430443..151432675-chr1:151490998..151493520,3	MCF-7	breast:
17	chr1:151430847..151432842-chr1:151517384..151519921,3	MCF-7	breast:
18	chr1:151430961..151432798-chr1:151585667..151587321,2	MCF-7	breast:
19	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:
20	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
21	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
22	chr1:151431956..151432631-chr1:151707245..151708154,2	K562	blood:
23	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
24	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143436	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000178796	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143376	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3393715	chr1:151430153-151433301	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
5	esv3392140	chr1:151430178-151433126	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	esv3371609	chr1:151430628-151432776	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151429800-151432400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:151429800-151432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:151429800-151432600	Active TSS	Colonic Mucosa	Colon
6	chr1:151429800-151432800	Active TSS	Psoas Muscle	Psoas
7	chr1:151430000-151432400	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:151430000-151432400	Active TSS	Duodenum Mucosa	Duodenum
9	chr1:151430000-151432400	Active TSS	Fetal Brain Female	brain
10	chr1:151430000-151432400	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr1:151430000-151432600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:151430000-151432600	Active TSS	HSMM	muscle
13	chr1:151430000-151432600	Active TSS	NHDF-Ad	bronchial
14	chr1:151430200-151432400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr1:151430200-151432600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:151430200-151432600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr1:151430200-151432600	Active TSS	HSMMtube	muscle
18	chr1:151430600-151432600	Active TSS	Primary B cells from cord blood	blood
19	chr1:151430600-151432600	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr1:151430800-151432400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:151431000-151432400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:151431000-151445000	Weak transcription	Spleen	Spleen
23	chr1:151431800-151432400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:151432000-151432400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:151432000-151432400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:151432000-151432400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:151432000-151432400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr1:151432000-151432400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr1:151432000-151432400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:151432000-151432400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:151432000-151432400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:151432000-151432400	Enhancers	Esophagus	oesophagus
33	chr1:151432000-151432400	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr1:151432000-151432400	Flanking Active TSS	Fetal Thymus	thymus
35	chr1:151432000-151432400	Enhancers	Right Ventricle	heart
36	chr1:151432000-151432400	Flanking Active TSS	HUVEC	blood vessel
37	chr1:151432000-151432600	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:151432000-151432600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:151432000-151432600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:151432000-151432600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:151432000-151432800	Enhancers	Stomach Mucosa	stomach
42	chr1:151432000-151432800	Flanking Active TSS	Dnd41	blood
43	chr1:151432200-151432400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:151432200-151432400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:151432200-151432400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:151432200-151432400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr1:151432200-151432400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:151432200-151432400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:151432200-151432400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:151432200-151432400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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