Variant report

Variant	rs4147451
Chromosome Location	chr1:151418479-151418480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 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	GATA3	chr1:151417944-151418637	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr1:151418044-151418585	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr1:151418157-151418554	SH-SY5Y	brain:	n/a	n/a

No data

(count:13 , 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	chr1:151415037..151418672-chr1:151540855..151543962,3	MCF-7	breast:
4	chr1:151416337..151418551-chr1:151419407..151421895,2	K562	blood:
5	chr1:151416766..151418637-chr1:151510989..151514187,4	MCF-7	breast:
6	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
7	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
8	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
9	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
10	chr1:151417086..151418869-chr1:151427238..151429980,2	K562	blood:
11	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
12	chr1:151412036..151414559-chr1:151416954..151420193,3	MCF-7	breast:
13	chr1:151418228..151420627-chr1:151423254..151425635,2	MCF-7	breast:

No data

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

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11204806	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204820	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196346	1.00[CEU][hapmap]
rs1196348	1.00[CEU][hapmap]
rs1196349	1.00[CEU][hapmap]
rs1196351	1.00[CEU][hapmap]
rs1196356	1.00[CEU][hapmap]
rs12566457	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12566673	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1539493	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs1571294	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16833248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833263	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16833274	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1781432	1.00[CEU][hapmap]
rs2296840	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2997072	1.00[CEU][hapmap]
rs3748549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3818561	1.00[CEU][hapmap]
rs4354539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4970916	0.82[EUR][1000 genomes]
rs4970953	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4971045	0.85[AMR][1000 genomes]
rs56317453	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58057716	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59153459	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59848815	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587574	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587586	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6669679	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704126	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67750241	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633634	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72633635	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633636	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72633637	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72633638	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633639	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548614	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9729256	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4147451	PSMB4	cis	lymphoblastoid	seeQTL

Chromatin state (count:116 , 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	chr1:151413800-151422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:151414000-151421200	Weak transcription	Thymus	Thymus
17	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:151414200-151425400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151414400-151421200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
23	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:151414600-151421800	Weak transcription	Fetal Intestine Large	intestine
25	chr1:151414600-151428200	Weak transcription	Fetal Brain Female	brain
26	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
28	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
29	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:151414800-151420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:151414800-151422600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:151414800-151427600	Weak transcription	K562	blood
33	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:151415000-151419800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:151415000-151421000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:151415000-151423800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
38	chr1:151415200-151420000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:151415200-151420000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:151415200-151425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:151415800-151418800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:151415800-151419800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:151415800-151420000	Weak transcription	Fetal Thymus	thymus
45	chr1:151416000-151418600	Enhancers	Colon Smooth Muscle	Colon
46	chr1:151416000-151419000	Enhancers	Liver	Liver
47	chr1:151416200-151418600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:151416200-151418600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:151416200-151418600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:151416200-151418600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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