Variant report

Variant	rs59848815
Chromosome Location	chr1:151415012-151415013
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:151414960-151415110	HA-sp	spinal cord:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151409926..151411809-chr1:151413476..151415968,2	MCF-7	breast:
2	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
3	chr1:151414651..151422317-chr1:151482271..151486624,12	MCF-7	breast:
4	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
5	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
6	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
7	chr1:151414283..151420812-chr1:151481565..151487481,13	MCF-7	breast:
8	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11204806	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204820	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12566457	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12566673	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1571294	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16833248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833263	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16833274	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2296840	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3748549	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4147451	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354539	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4970953	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4971045	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56317453	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58057716	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59153459	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6587574	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587586	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6669679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704126	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67750241	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633634	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72633635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633636	0.96[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72633637	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72633638	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633639	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548614	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9729256	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151373400-151416400	Weak transcription	Stomach Mucosa	stomach
2	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:151398600-151417400	Weak transcription	Fetal Heart	heart
4	chr1:151400800-151417400	Weak transcription	Aorta	Aorta
5	chr1:151401000-151416200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
7	chr1:151401400-151417400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
9	chr1:151402200-151416200	Weak transcription	Colonic Mucosa	Colon
10	chr1:151403200-151416800	Weak transcription	HSMMtube	muscle
11	chr1:151403400-151416200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:151405800-151428400	Weak transcription	Right Atrium	heart
13	chr1:151406000-151415800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:151406400-151415200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:151408400-151416200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:151409200-151415200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:151410200-151429800	Weak transcription	Lung	lung
18	chr1:151410800-151415800	Strong transcription	Fetal Thymus	thymus
19	chr1:151411200-151415200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:151411400-151417200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:151411400-151417400	Weak transcription	Gastric	stomach
22	chr1:151411400-151419600	Weak transcription	Fetal Stomach	stomach
23	chr1:151411400-151427200	Weak transcription	Right Ventricle	heart
24	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:151411600-151417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:151412200-151415800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:151412400-151416200	Weak transcription	HMEC	breast
28	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
29	chr1:151413000-151415600	Strong transcription	NHEK	skin
30	chr1:151413200-151415200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:151413600-151415800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:151413600-151416200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
34	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:151413800-151415800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:151413800-151416200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:151413800-151416200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:151413800-151417400	Weak transcription	Psoas Muscle	Psoas
39	chr1:151413800-151418400	Weak transcription	NHLF	lung
40	chr1:151413800-151422600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:151414000-151416200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:151414000-151416200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:151414000-151416200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:151414000-151416200	Weak transcription	NHDF-Ad	bronchial
48	chr1:151414000-151416600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:151414000-151416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:151414000-151416600	Weak transcription	HUVEC	blood vessel

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