Variant report

Variant	rs546287664
Chromosome Location	chr1:151430264-151430265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr1:151430201-151433371	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr1:151430237-151431126	IMR90	lung:	n/a	chr1:151431037-151431047
3	POLR2A	chr1:151430208-151432108	GM12892	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

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	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
8	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
9	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
10	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
11	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
12	chr1:151428600..151431654-chr1:151540611..151542217,3	MCF-7	breast:
13	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
14	chr1:151429853..151431454-chr1:151735705..151737586,2	K562	blood:
15	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
16	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
17	chr1:151429154..151431370-chr1:151947208..151949850,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143450	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000159377	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000143375	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151429200-151430400	Enhancers	Stomach Mucosa	stomach
4	chr1:151429200-151430400	Enhancers	Spleen	Spleen
5	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
6	chr1:151429400-151430400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:151429400-151430400	Enhancers	Fetal Heart	heart
8	chr1:151429400-151430400	Enhancers	Placenta	Placenta
9	chr1:151429400-151431000	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:151429600-151430600	Flanking Active TSS	Left Ventricle	heart
11	chr1:151429600-151430600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr1:151429600-151430800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr1:151429600-151430800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:151429600-151431000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:151429600-151432000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:151429800-151430400	Enhancers	Lung	lung
17	chr1:151429800-151430600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr1:151429800-151430600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:151429800-151430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:151429800-151431000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:151429800-151431000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:151429800-151431000	Active TSS	Right Atrium	heart
23	chr1:151429800-151431000	Flanking Active TSS	Dnd41	blood
24	chr1:151429800-151432200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:151429800-151432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:151429800-151432200	Active TSS	NHLF	lung
27	chr1:151429800-151432400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:151429800-151432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:151429800-151432600	Active TSS	Colonic Mucosa	Colon
32	chr1:151429800-151432800	Active TSS	Psoas Muscle	Psoas
33	chr1:151430000-151430400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:151430000-151430400	Active TSS	Primary T cells from cord blood	blood
35	chr1:151430000-151430400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:151430000-151430400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr1:151430000-151430600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr1:151430000-151430600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:151430000-151431000	Active TSS	Gastric	stomach
40	chr1:151430000-151431800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:151430000-151432000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:151430000-151432000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:151430000-151432000	Active TSS	Ovary	ovary
44	chr1:151430000-151432000	Active TSS	Right Ventricle	heart
45	chr1:151430000-151432000	Active TSS	HUVEC	blood vessel
46	chr1:151430000-151432000	Active TSS	NH-A	brain
47	chr1:151430000-151432200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr1:151430000-151432200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:151430000-151432200	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr1:151430000-151432200	Active TSS	HUES64 Cell Line	embryonic stem cell

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