Variant report

Variant	rs72659053
Chromosome Location	chr8:62604468-62604469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62604325-62604534	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:62603604-62604722	K562	blood:	n/a	n/a
3	POLR2A	chr8:62603465-62604556	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:62603623-62604878	U87	brain:	n/a	n/a
5	POLR2A	chr8:62603680-62604636	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:62604442-62604515	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr8:62603895-62604515	A549	lung:	n/a	n/a
8	POLR2A	chr8:62603609-62612048	A549	lung:	n/a	n/a
9	POLR2A	chr8:62603786-62609667	K562	blood:	n/a	n/a
10	POLR2A	chr8:62604239-62604611	K562	blood:	n/a	n/a
11	POLR2A	chr8:62603623-62605196	U87	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62576759..62578756-chr8:62604008..62606296,2	MCF-7	breast:
3	chr8:62598806..62603846-chr8:62603890..62607885,6	K562	blood:
4	chr8:62584507..62586097-chr8:62602896..62604975,2	K562	blood:
5	chr8:62600772..62604882-chr8:62678013..62681248,3	MCF-7	breast:
6	chr8:62602720..62604723-chr8:62672948..62674768,2	K562	blood:
7	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:

No data

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction
ENSG00000251127	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10089733	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10096620	0.82[EUR][1000 genomes]
rs10098842	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10504332	0.82[EUR][1000 genomes]
rs11784377	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11785234	0.82[EUR][1000 genomes]
rs11992715	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927824	0.82[EUR][1000 genomes]
rs28377995	0.82[EUR][1000 genomes]
rs28450968	0.80[EUR][1000 genomes]
rs28453030	0.80[EUR][1000 genomes]
rs28478791	0.82[EUR][1000 genomes]
rs28515925	0.82[EUR][1000 genomes]
rs28537445	0.82[EUR][1000 genomes]
rs28609354	0.82[EUR][1000 genomes]
rs28624467	0.80[EUR][1000 genomes]
rs28662977	0.80[EUR][1000 genomes]
rs6982384	0.81[EUR][1000 genomes]
rs6989668	0.82[EUR][1000 genomes]
rs6990434	0.85[EUR][1000 genomes]
rs6993674	0.82[EUR][1000 genomes]
rs7006994	0.82[EUR][1000 genomes]
rs7013997	0.82[EUR][1000 genomes]
rs7014115	0.82[EUR][1000 genomes]
rs7015215	0.82[EUR][1000 genomes]
rs72659045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72659050	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72659065	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7835761	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62586000-62606400	Weak transcription	Lung	lung
5	chr8:62588800-62605000	Weak transcription	Spleen	Spleen
6	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:62599800-62608800	Enhancers	Osteobl	bone
11	chr8:62600200-62605000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:62600200-62605600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:62600200-62607600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:62600800-62605200	Weak transcription	HUVEC	blood vessel
15	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:62601200-62606400	Weak transcription	Left Ventricle	heart
17	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
18	chr8:62602200-62605200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:62602200-62608800	Enhancers	NHDF-Ad	bronchial
20	chr8:62602400-62605200	Enhancers	Stomach Mucosa	stomach
21	chr8:62602600-62607200	Enhancers	Adipose Nuclei	Adipose
22	chr8:62602800-62605000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:62602800-62605000	Weak transcription	HMEC	breast
24	chr8:62602800-62605200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:62602800-62605200	Weak transcription	NHLF	lung
26	chr8:62602800-62606400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:62602800-62606400	Weak transcription	Ovary	ovary
28	chr8:62602800-62607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:62603000-62604600	Enhancers	Fetal Heart	heart
31	chr8:62603000-62605000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:62603000-62605000	Enhancers	K562	blood
33	chr8:62603000-62605200	Weak transcription	NH-A	brain
34	chr8:62603000-62605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:62603000-62606000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:62603000-62608000	Weak transcription	Right Atrium	heart
37	chr8:62603000-62608000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:62603000-62608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:62603000-62608600	Weak transcription	Brain Anterior Caudate	brain
40	chr8:62603000-62609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:62603000-62609600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
45	chr8:62603000-62612400	Weak transcription	HSMM	muscle
46	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung

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