Variant report

Variant	rs16927767
Chromosome Location	chr8:62607275-62607276
allele	A/T
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:5)
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	chr8:62606651-62608214	U87	brain:	n/a	n/a
2	POLR2A	chr8:62605982-62609125	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:62606635-62608214	U87	brain:	n/a	n/a
4	POLR2A	chr8:62604848-62607545	U87	brain:	n/a	n/a
5	POLR2A	chr8:62604841-62611937	K562	blood:	n/a	n/a
6	POLR2A	chr8:62604945-62609676	K562	blood:	n/a	n/a
7	POLR2A	chr8:62606633-62607473	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:62604927-62608320	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:62603609-62612048	A549	lung:	n/a	n/a
10	POLR2A	chr8:62603786-62609667	K562	blood:	n/a	n/a
11	POLR2A	chr8:62604848-62607600	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62598806..62603846-chr8:62603890..62607885,6	K562	blood:
3	chr8:62605925..62608885-chr8:62622452..62624247,2	MCF-7	breast:
4	chr8:62544962..62547917-chr8:62605591..62607681,2	K562	blood:
5	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:

No data

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

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10090651	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10098691	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10099866	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11986004	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11992990	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13255699	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16927652	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.97[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17205360	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17793991	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2350917	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2350925	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2882536	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35337652	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35550451	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35683980	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4272369	0.86[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs4354302	0.96[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4377960	0.84[CEU][hapmap];0.89[YRI][hapmap]
rs4446731	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4515541	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4633055	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6471968	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6549	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[EUR][1000 genomes]
rs67189750	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6984286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990099	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7009611	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7015043	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7813834	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7830237	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7840731	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7842421	1.00[CEU][hapmap];0.96[CHB][hapmap];0.83[JPT][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][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:76 , 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	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:62599800-62608800	Enhancers	Osteobl	bone
8	chr8:62600200-62607600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
10	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
11	chr8:62602200-62608800	Enhancers	NHDF-Ad	bronchial
12	chr8:62602800-62607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
14	chr8:62603000-62608000	Weak transcription	Right Atrium	heart
15	chr8:62603000-62608000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:62603000-62608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:62603000-62608600	Weak transcription	Brain Anterior Caudate	brain
18	chr8:62603000-62609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr8:62603000-62609600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
23	chr8:62603000-62612400	Weak transcription	HSMM	muscle
24	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
29	chr8:62603200-62609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr8:62603200-62610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:62603200-62610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:62603400-62607400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr8:62604200-62608000	Weak transcription	Psoas Muscle	Psoas
34	chr8:62604200-62611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
36	chr8:62604400-62608400	Genic enhancers	Hela-S3	cervix
37	chr8:62604400-62610600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:62604600-62608000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:62604600-62612400	Weak transcription	Fetal Heart	heart
40	chr8:62605200-62608000	Weak transcription	Stomach Mucosa	stomach
41	chr8:62605400-62612400	Enhancers	K562	blood
42	chr8:62605800-62607800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:62605800-62607800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:62605800-62608600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:62605800-62612400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:62605800-62612400	Weak transcription	Spleen	Spleen
47	chr8:62605800-62612600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:62605800-62612800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr8:62606000-62608000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr8:62606000-62609800	Weak transcription	HepG2	liver

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