Variant report

Variant	rs115434390
Chromosome Location	chr8:1916357-1916358
allele	A/G
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	MAX	chr8:1916001-1916806	A549	lung:	n/a	n/a
2	REST	chr8:1916299-1916724	ECC-1	luminal epithelium:	n/a	n/a
3	FOXP2	chr8:1916353-1916623	PFSK-1	brain:	n/a	n/a
4	FOXA2	chr8:1916162-1916884	A549	lung:	n/a	n/a
5	SP1	chr8:1916033-1916738	A549	lung:	n/a	n/a
6	POLR2A	chr8:1916044-1916722	HCT-116	colon:	n/a	n/a
7	FOXA2	chr8:1916248-1916806	A549	lung:	n/a	n/a
8	POLR2A	chr8:1915957-1916703	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1877543..1880354-chr8:1915068..1917833,2	K562	blood:

Variant related genes	Relation type
KBTBD11-OT1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv889739	chr8:1898547-1918352	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv525036	chr8:1910658-1918352	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1905600-1921000	Weak transcription	Aorta	Aorta
2	chr8:1905800-1916800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:1906600-1921000	Weak transcription	Right Ventricle	heart
4	chr8:1909000-1919000	Weak transcription	Fetal Kidney	kidney
5	chr8:1911600-1919200	Weak transcription	Brain Germinal Matrix	brain
6	chr8:1912000-1920600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:1912200-1918800	Weak transcription	Liver	Liver
8	chr8:1912200-1920800	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:1913600-1916600	Enhancers	Fetal Muscle Leg	muscle
10	chr8:1913600-1921200	Weak transcription	Esophagus	oesophagus
11	chr8:1913800-1916600	Enhancers	HSMMtube	muscle
12	chr8:1914400-1916600	Enhancers	Psoas Muscle	Psoas
13	chr8:1914600-1918200	Weak transcription	Small Intestine	intestine
14	chr8:1914600-1921200	Weak transcription	Left Ventricle	heart
15	chr8:1914800-1916400	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:1914800-1916800	Enhancers	HSMM	muscle
17	chr8:1914800-1921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:1914800-1921200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:1915200-1916400	Weak transcription	Fetal Brain Female	brain
20	chr8:1915200-1916400	Weak transcription	Right Atrium	heart
21	chr8:1915200-1916600	Enhancers	Fetal Brain Male	brain
22	chr8:1915200-1916800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:1915200-1918000	Weak transcription	Colonic Mucosa	Colon
24	chr8:1915200-1918000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:1915200-1919000	Weak transcription	Fetal Lung	lung
26	chr8:1915200-1919000	Weak transcription	Pancreas	Pancrea
27	chr8:1915200-1919000	Weak transcription	Spleen	Spleen
28	chr8:1915400-1918000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:1915800-1916400	Flanking Active TSS	A549	lung
30	chr8:1915800-1916600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr8:1916000-1916600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:1916200-1916600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr8:1916200-1916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:1916200-1916800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr8:1916200-1916800	Enhancers	Fetal Heart	heart

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