Variant report

Variant	rs548575756
Chromosome Location	chr8:1919139-1919140
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:1918841-1920609	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr8:1918781-1920038	SK-N-MC	brain:	n/a	n/a
3	EP300	chr8:1919138-1919582	SK-N-SH_RA	brain:	n/a	chr8:1919326-1919336
4	POLR2A	chr8:1919114-1919772	SK-N-MC	brain:	n/a	n/a
5	FOXP2	chr8:1919122-1919744	SK-N-MC	brain:	n/a	n/a
6	EP300	chr8:1918882-1920538	SK-N-SH	brain:	n/a	chr8:1919326-1919336

Variant related genes	Relation type
ENSG00000270988	TF binding region
KBTBD11-OT1	TF binding region
KBTBD11	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	17 gene(s)	inside rSNPs	diseases
4	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
6	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv609531	chr8:1717036-1965389	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv889717	chr8:1746950-1924237	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv889724	chr8:1756800-1965389	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	12 gene(s)	inside rSNPs	diseases
10	nsv889729	chr8:1800560-1947417	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv889731	chr8:1868842-1965389	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv889736	chr8:1892069-1965389	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv889738	chr8:1897249-1965389	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv824473	chr8:1914305-1965389	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv824474	chr8:1915145-1960212	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv824477	chr8:1915145-1965389	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv889740	chr8:1916347-1954464	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv889741	chr8:1916347-1955283	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv889742	chr8:1918352-1955142	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1905600-1921000	Weak transcription	Aorta	Aorta
2	chr8:1906600-1921000	Weak transcription	Right Ventricle	heart
3	chr8:1911600-1919200	Weak transcription	Brain Germinal Matrix	brain
4	chr8:1912000-1920600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:1912200-1920800	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:1913600-1921200	Weak transcription	Esophagus	oesophagus
7	chr8:1914600-1921200	Weak transcription	Left Ventricle	heart
8	chr8:1914800-1921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:1914800-1921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:1916600-1920800	Weak transcription	HSMMtube	muscle
11	chr8:1916600-1921200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:1916800-1920800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1916800-1920800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:1916800-1920800	Weak transcription	Fetal Heart	heart
15	chr8:1916800-1921000	Weak transcription	HSMM	muscle
16	chr8:1918400-1919200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:1918400-1920000	Enhancers	Fetal Brain Male	brain
18	chr8:1918600-1919600	Weak transcription	Colonic Mucosa	Colon
19	chr8:1918600-1921000	Weak transcription	Small Intestine	intestine
20	chr8:1918800-1919800	Enhancers	Fetal Intestine Large	intestine
21	chr8:1918800-1921000	Enhancers	Liver	Liver
22	chr8:1919000-1919200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr8:1919000-1919200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr8:1919000-1919400	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:1919000-1919400	Enhancers	Fetal Kidney	kidney
26	chr8:1919000-1919600	Enhancers	Fetal Intestine Small	intestine
27	chr8:1919000-1919600	Enhancers	Pancreas	Pancrea
28	chr8:1919000-1920000	Flanking Active TSS	Fetal Brain Female	brain
29	chr8:1919000-1920000	Enhancers	Fetal Lung	lung
30	chr8:1919000-1921000	Enhancers	Fetal Muscle Leg	muscle
31	chr8:1919000-1921400	Enhancers	Spleen	Spleen

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