Variant report

Variant	rs560914289
Chromosome Location	chr5:114937374-114937375
allele	A/C
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	BCLAF1	chr5:114937272-114937742	GM12878	blood:	n/a	chr5:114937585-114937594
2	POLR2A	chr5:114937306-114938303	GM12878	blood:	n/a	n/a
3	YY1	chr5:114937340-114937729	GM12878	blood:	n/a	chr5:114937621-114937635
4	IRF4	chr5:114937308-114937807	GM12878	blood:	n/a	n/a
5	EP300	chr5:114937279-114937711	GM12878	blood:	n/a	n/a
6	YY1	chr5:114937307-114937731	GM12878	blood:	n/a	chr5:114937621-114937635
7	BCLAF1	chr5:114937314-114938529	GM12878	blood:	n/a	chr5:114937585-114937594
8	POLR2A	chr5:114937337-114938493	GM15510	blood:	n/a	n/a
9	POLR2A	chr5:114937251-114938986	GM12892	blood:	n/a	n/a
10	YY1	chr5:114937321-114937792	GM12892	blood:	n/a	chr5:114937621-114937635
11	RELA	chr5:114937302-114937781	GM12892	blood:	n/a	n/a
12	POLR2A	chr5:114937296-114937706	GM12892	blood:	n/a	n/a
13	ATF2	chr5:114937257-114937744	GM12878	blood:	n/a	n/a
14	BATF	chr5:114937319-114937692	GM12878	blood:	n/a	n/a
15	RELA	chr5:114937343-114937787	GM18526	blood:	n/a	n/a
16	POLR2A	chr5:114937337-114938263	GM12878	blood:	n/a	n/a
17	SP1	chr5:114937346-114937757	GM12878	blood:	n/a	n/a
18	STAT5A	chr5:114937287-114937706	GM12878	blood:	n/a	n/a
19	RUNX3	chr5:114937218-114938783	GM12878	blood:	n/a	chr5:114938232-114938241 chr5:114938232-114938241
20	IRF4	chr5:114937307-114937689	GM12878	blood:	n/a	n/a
21	PML	chr5:114937358-114937729	GM12878	blood:	n/a	n/a
22	TAF1	chr5:114937334-114937701	GM12892	blood:	n/a	n/a
23	POLR2A	chr5:114937195-114937832	GM12878	blood:	n/a	n/a
24	NRF1	chr5:114937361-114937495	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFATC1	chr5:114937163-114937730	GM12878	blood:	n/a	n/a
26	POU2F2	chr5:114937292-114938393	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:114936963-114939112	GM12878	blood:	n/a	n/a
28	NFIC	chr5:114937236-114937709	GM12878	blood:	n/a	n/a
29	RELA	chr5:114937289-114938880	GM12891	blood:	n/a	n/a
30	MAX	chr5:114937353-114938404	A549	lung:	n/a	n/a
31	RELA	chr5:114937243-114937771	GM12878	blood:	n/a	n/a
32	PAX5	chr5:114937369-114938676	GM12878	blood:	n/a	chr5:114938628-114938647
33	EBF1	chr5:114937301-114938035	GM12878	blood:	n/a	n/a
34	TCF3	chr5:114937316-114937726	GM12878	blood:	n/a	n/a
35	STAT5A	chr5:114937276-114938942	GM12878	blood:	n/a	n/a
36	PML	chr5:114937254-114938639	GM12878	blood:	n/a	n/a
37	ZBTB7A	chr5:114937355-114938368	ECC-1	luminal epithelium:	n/a	n/a
38	YY1	chr5:114937337-114937898	GM12891	blood:	n/a	chr5:114937621-114937635
39	POLR2A	chr5:114937263-114938526	GM18951	blood:	n/a	n/a
40	RCOR1	chr5:114937365-114938502	GM12878	blood:	n/a	n/a
41	FOXM1	chr5:114937298-114938458	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:114937345-114938523	GM12891	blood:	n/a	n/a
43	TCF3	chr5:114937340-114938287	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:114937296-114938537	GM18526	blood:	n/a	n/a
45	POU2F2	chr5:114937315-114937735	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:114937263-114938808	GM18505	blood:	n/a	n/a
47	POLR2A	chr5:114935210-114941425	K562	blood:	n/a	n/a
48	POLR2A	chr5:114937261-114938826	GM19099	blood:	n/a	n/a
49	BHLHE40	chr5:114937335-114938650	GM12878	blood:	n/a	n/a
50	MTA3	chr5:114937140-114937706	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:114877886..114879457-chr5:114935009..114937600,2	K562	blood:
2	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
3	chr5:114936247..114938177-chr5:114959534..114962655,3	K562	blood:

Variant related genes	Relation type
ENSG00000249249	TF binding region
ENSG00000134970	Chromatin interaction
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3344393	chr5:114937053-114938901	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
3	chr5:114930200-114937400	Weak transcription	Hela-S3	cervix
4	chr5:114933000-114937400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:114935000-114937400	Enhancers	Brain Anterior Caudate	brain
6	chr5:114935200-114937400	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:114935600-114937400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:114935600-114937400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:114935600-114937400	Weak transcription	NHEK	skin
10	chr5:114935800-114937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:114935800-114937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:114935800-114938400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr5:114936000-114937400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:114936000-114937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:114936000-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:114936000-114938400	Active TSS	Aorta	Aorta
17	chr5:114936200-114937400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:114936200-114937400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:114936200-114937400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:114936200-114937400	Enhancers	Stomach Mucosa	stomach
21	chr5:114936400-114937400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:114936400-114937400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:114936400-114937400	Weak transcription	Gastric	stomach
24	chr5:114936400-114937400	Enhancers	A549	lung
25	chr5:114936400-114938200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:114936400-114938400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:114936600-114937400	Weak transcription	Brain Angular Gyrus	brain
28	chr5:114936600-114937600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr5:114936600-114938400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:114936600-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:114936600-114938400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr5:114936600-114938400	Active TSS	NHLF	lung
33	chr5:114936800-114937400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:114936800-114938400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114936800-114938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:114936800-114938400	Active TSS	Brain Hippocampus Middle	brain
37	chr5:114936800-114938400	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr5:114936800-114938400	Weak transcription	Dnd41	blood
39	chr5:114936800-114938400	Active TSS	HSMM	muscle
40	chr5:114936800-114938400	Active TSS	NH-A	brain
41	chr5:114936800-114938400	Active TSS	NHDF-Ad	bronchial
42	chr5:114936800-114938600	Active TSS	Right Atrium	heart
43	chr5:114937000-114937400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:114937000-114937400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:114937000-114937400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr5:114937000-114937400	Active TSS	Fetal Brain Male	brain
47	chr5:114937000-114937400	Weak transcription	Fetal Heart	heart
48	chr5:114937000-114937600	Flanking Active TSS	Fetal Brain Female	brain
49	chr5:114937000-114937600	Flanking Active TSS	HUVEC	blood vessel
50	chr5:114937000-114938000	Active TSS	Thymus	Thymus

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