Variant report

Variant	rs4970952
Chromosome Location	chr1:151418370-151418371
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:151418129-151418648	GM12878	blood:	n/a	n/a
2	PRDM1	chr1:151418108-151418405	Hela-S3	cervix:	n/a	chr1:151418270-151418284 chr1:151418269-151418284 chr1:151418271-151418284
3	GATA3	chr1:151417944-151418637	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr1:151418044-151418585	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr1:151418157-151418554	SH-SY5Y	brain:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151410072..151413256-chr1:151417263..151420004,3	K562	blood:
2	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
3	chr1:151402377..151405267-chr1:151416084..151418421,2	MCF-7	breast:
4	chr1:151415037..151418672-chr1:151540855..151543962,3	MCF-7	breast:
5	chr1:151415530..151418373-chr1:151510570..151514579,6	MCF-7	breast:
6	chr1:151416337..151418551-chr1:151419407..151421895,2	K562	blood:
7	chr1:151416766..151418637-chr1:151510989..151514187,4	MCF-7	breast:
8	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
9	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
10	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
11	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
12	chr1:151417086..151418869-chr1:151427238..151429980,2	K562	blood:
13	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
14	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
15	chr1:151418228..151420627-chr1:151423254..151425635,2	MCF-7	breast:

No data

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1539494	1.00[AMR][1000 genomes]
rs2479381	1.00[AMR][1000 genomes]
rs2479384	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2479386	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495379	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2495390	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2495391	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001839	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3001840	1.00[YRI][hapmap]
rs4246528	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667714	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683010	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
3	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
4	chr1:151405800-151428400	Weak transcription	Right Atrium	heart
5	chr1:151410200-151429800	Weak transcription	Lung	lung
6	chr1:151411400-151419600	Weak transcription	Fetal Stomach	stomach
7	chr1:151411400-151427200	Weak transcription	Right Ventricle	heart
8	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
10	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
11	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:151413800-151418400	Weak transcription	NHLF	lung
13	chr1:151413800-151422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:151414000-151421200	Weak transcription	Thymus	Thymus
18	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:151414200-151425400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:151414400-151418400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:151414400-151421200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
25	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr1:151414600-151421800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:151414600-151428200	Weak transcription	Fetal Brain Female	brain
28	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
30	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
31	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:151414800-151420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:151414800-151422600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr1:151414800-151427600	Weak transcription	K562	blood
35	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:151415000-151419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:151415000-151421000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:151415000-151423800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
40	chr1:151415200-151420000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:151415200-151420000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:151415200-151425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:151415800-151418800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:151415800-151419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:151415800-151420000	Weak transcription	Fetal Thymus	thymus
47	chr1:151416000-151418600	Enhancers	Colon Smooth Muscle	Colon
48	chr1:151416000-151419000	Enhancers	Liver	Liver
49	chr1:151416200-151418400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151416200-151418400	Enhancers	Pancreatic Islets	Pancreatic Islet

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