Variant report

Variant	rs571068493
Chromosome Location	chr1:151430618-151430619
allele	A/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	POLR2A	chr1:151430358-151431164	SK-N-SH	brain:	n/a	n/a
2	TAF1	chr1:151430577-151430807	PFSK-1	brain:	n/a	n/a
3	PBX3	chr1:151430517-151431171	A549	lung:	n/a	n/a
4	POLR2A	chr1:151430410-151431109	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr1:151430435-151431044	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:151430401-151431099	GM12891	blood:	n/a	n/a
7	YY1	chr1:151430539-151431037	H1-hESC	embryonic stem cell:	n/a	chr1:151430773-151430782 chr1:151430762-151430784 chr1:151430772-151430784
8	EP300	chr1:151430420-151431090	A549	lung:	n/a	chr1:151430780-151430796
9	HCFC1	chr1:151430201-151433371	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr1:151430466-151431073	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:151430407-151432118	GM15510	blood:	n/a	n/a
12	GABPA	chr1:151430534-151430949	A549	lung:	n/a	n/a
13	YY1	chr1:151430438-151431164	ECC-1	luminal epithelium:	n/a	chr1:151430773-151430782 chr1:151430762-151430784 chr1:151430772-151430784
14	CEBPB	chr1:151430384-151431100	MCF-7	breast:	n/a	chr1:151430946-151430959
15	TAF1	chr1:151430570-151431039	Hela-S3	cervix:	n/a	n/a
16	FOSL2	chr1:151430383-151431013	A549	lung:	n/a	chr1:151430670-151430679
17	POLR2A	chr1:151430450-151431059	U87	brain:	n/a	n/a
18	YY1	chr1:151430331-151431376	SK-N-SH	brain:	n/a	chr1:151431259-151431273 chr1:151430773-151430782 chr1:151430762-151430784 chr1:151430772-151430784
19	BCL3	chr1:151430370-151431053	A549	lung:	n/a	n/a
20	SIN3AK20	chr1:151430354-151431024	A549	lung:	n/a	n/a
21	POLR2A	chr1:151430598-151432171	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFK	chr1:151430591-151430965	Hela-S3	cervix:	n/a	n/a
23	TBP	chr1:151430606-151431051	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr1:151430589-151431026	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr1:151430362-151430621	GM12878	blood:	n/a	n/a
26	FOXM1	chr1:151430546-151431040	GM12878	blood:	n/a	n/a
27	POLR2A	chr1:151430517-151431063	HCT-116	colon:	n/a	n/a
28	CREB1	chr1:151430551-151431066	H1-hESC	embryonic stem cell:	n/a	n/a
29	YY1	chr1:151430384-151431038	GM12892	blood:	n/a	chr1:151430773-151430782 chr1:151430762-151430784 chr1:151430772-151430784
30	MAZ	chr1:151430433-151432598	IMR90	lung:	n/a	chr1:151431861-151431871
31	PBX3	chr1:151430470-151431217	A549	lung:	n/a	n/a
32	PML	chr1:151430493-151431060	K562	blood:	n/a	n/a
33	CHD2	chr1:151430598-151431026	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:151430356-151431073	HUVEC	blood vessel:	n/a	n/a
35	FOXA2	chr1:151430582-151431061	A549	lung:	n/a	n/a
36	SP1	chr1:151430587-151431021	H1-hESC	embryonic stem cell:	n/a	chr1:151430820-151430831 chr1:151430821-151430830
37	BHLHE40	chr1:151430474-151430920	GM12878	blood:	n/a	chr1:151430779-151430795
38	PML	chr1:151430380-151431074	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:151430351-151431077	PANC-1	pancreas:	n/a	n/a
40	TAF1	chr1:151430509-151431112	A549	lung:	n/a	n/a
41	EGR1	chr1:151430419-151432135	MCF-7	breast:	n/a	chr1:151431912-151431926 chr1:151431871-151431881 chr1:151431587-151431601 chr1:151431168-151431182 chr1:151431239-151431248 chr1:151431843-151431853 chr1:151431844-151431854 chr1:151431847-151431857 chr1:151431978-151431987 chr1:151431205-151431219 chr1:151431053-151431066 chr1:151431518-151431532
42	STAT3	chr1:151430537-151430771	GM12878	blood:	n/a	chr1:151430540-151430551
43	POLR2A	chr1:151430508-151432128	GM18951	blood:	n/a	n/a
44	TAF1	chr1:151430412-151430911	GM12878	blood:	n/a	n/a
45	BRCA1	chr1:151430586-151430976	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr1:151430407-151430763	GM12891	blood:	n/a	n/a
47	RUNX3	chr1:151430336-151431055	GM12878	blood:	n/a	n/a
48	EP300	chr1:151430612-151431041	K562	blood:	n/a	chr1:151430780-151430796
49	SP1	chr1:151430605-151431011	H1-hESC	embryonic stem cell:	n/a	chr1:151430820-151430831 chr1:151430821-151430830
50	ZKSCAN1	chr1:151430547-151431037	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
4	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
5	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
6	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
7	chr1:151270824..151272634-chr1:151430532..151433338,2	MCF-7	breast:
8	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
9	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
10	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
11	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
12	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
13	chr1:151430443..151432675-chr1:151490998..151493520,3	MCF-7	breast:
14	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
15	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:
16	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
17	chr1:151429853..151431454-chr1:151735705..151737586,2	K562	blood:
18	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
19	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
20	chr1:151429154..151431370-chr1:151947208..151949850,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSMB4-2	chr1:151429179-151430776	NONHSAT006396

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143367	Chromatin interaction
ENSG00000178796	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
2	chr1:151429400-151431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr1:151429600-151430800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:151429600-151430800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr1:151429600-151431000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:151429600-151432000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:151429800-151430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:151429800-151431000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:151429800-151431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:151429800-151431000	Active TSS	Right Atrium	heart
11	chr1:151429800-151431000	Flanking Active TSS	Dnd41	blood
12	chr1:151429800-151432200	Active TSS	H1 Cell Line	embryonic stem cell
13	chr1:151429800-151432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:151429800-151432200	Active TSS	NHLF	lung
15	chr1:151429800-151432400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:151429800-151432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:151429800-151432600	Active TSS	Colonic Mucosa	Colon
20	chr1:151429800-151432800	Active TSS	Psoas Muscle	Psoas
21	chr1:151430000-151431000	Active TSS	Gastric	stomach
22	chr1:151430000-151431800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:151430000-151432000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:151430000-151432000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:151430000-151432000	Active TSS	Ovary	ovary
26	chr1:151430000-151432000	Active TSS	Right Ventricle	heart
27	chr1:151430000-151432000	Active TSS	HUVEC	blood vessel
28	chr1:151430000-151432000	Active TSS	NH-A	brain
29	chr1:151430000-151432200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:151430000-151432200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr1:151430000-151432200	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr1:151430000-151432200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr1:151430000-151432200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:151430000-151432200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:151430000-151432200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:151430000-151432200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:151430000-151432200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:151430000-151432200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:151430000-151432200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:151430000-151432200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:151430000-151432200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr1:151430000-151432200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:151430000-151432200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:151430000-151432200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:151430000-151432200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:151430000-151432200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:151430000-151432200	Active TSS	Brain Anterior Caudate	brain
48	chr1:151430000-151432200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:151430000-151432200	Active TSS	Colon Smooth Muscle	Colon
50	chr1:151430000-151432200	Active TSS	Duodenum Smooth Muscle	Duodenum

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