Variant report

Variant	rs73269256
Chromosome Location	chr8:62601171-62601172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62600397-62601364	U87	brain:	n/a	n/a
2	CUX1	chr8:62601067-62601188	K562	blood:	n/a	n/a
3	POLR2A	chr8:62601092-62601821	U87	brain:	n/a	n/a
4	TBL1XR1	chr8:62600833-62601518	K562	blood:	n/a	n/a
5	POLR2A	chr8:62599624-62601763	K562	blood:	n/a	n/a
6	JUND	chr8:62601156-62601413	K562	blood:	n/a	n/a
7	EP300	chr8:62601099-62601461	K562	blood:	n/a	n/a
8	POLR2A	chr8:62594700-62601512	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62595760..62598756-chr8:62600966..62603873,2	MCF-7	breast:
3	chr8:62594590..62596826-chr8:62600126..62603073,2	MCF-7	breast:
4	chr8:62600772..62604882-chr8:62678013..62681248,3	MCF-7	breast:
5	chr8:62599050..62601390-chr8:62788513..62790714,2	K562	blood:
6	chr8:62595876..62598514-chr8:62600212..62603017,3	K562	blood:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs73267211	1.00[AMR][1000 genomes]
rs73267217	1.00[AMR][1000 genomes]
rs73267220	1.00[AMR][1000 genomes]
rs73267238	1.00[AMR][1000 genomes]
rs73267240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73267296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271257	1.00[AMR][1000 genomes]
rs73271263	1.00[AMR][1000 genomes]
rs73271272	1.00[AMR][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:100 , 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	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
3	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
4	chr8:62553200-62603800	Weak transcription	Gastric	stomach
5	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
7	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
8	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
10	chr8:62566200-62602200	Weak transcription	Ovary	ovary
11	chr8:62575800-62602200	Weak transcription	Brain Substantia Nigra	brain
12	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:62584000-62602400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:62584400-62602400	Weak transcription	Fetal Brain Female	brain
15	chr8:62585200-62601400	Weak transcription	Brain Germinal Matrix	brain
16	chr8:62586000-62602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:62586000-62603800	Weak transcription	Esophagus	oesophagus
18	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:62586000-62606400	Weak transcription	Lung	lung
20	chr8:62586200-62602200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:62588800-62605000	Weak transcription	Spleen	Spleen
22	chr8:62589000-62601200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:62589800-62601200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:62591600-62602400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:62593400-62602200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:62595200-62602200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:62595400-62602400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:62595600-62601200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:62595600-62602400	Weak transcription	Fetal Lung	lung
31	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:62596200-62602000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr8:62596200-62602400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:62596600-62601400	Weak transcription	Liver	Liver
36	chr8:62596600-62602000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:62596600-62602400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:62596800-62601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:62596800-62601400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:62596800-62602000	Weak transcription	NHLF	lung
41	chr8:62596800-62602200	Weak transcription	HMEC	breast
42	chr8:62596800-62602200	Weak transcription	NHEK	skin
43	chr8:62596800-62602400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:62597200-62602400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:62597400-62602400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:62597400-62602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:62597400-62602600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:62597800-62601200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:62597800-62602200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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