Variant report

Variant	rs548198881
Chromosome Location	chr5:114937467-114937468
allele	G/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	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	TAF1	chr5:114937385-114937708	GM12878	blood:	n/a	n/a
12	SIN3A	chr5:114937391-114937927	GM12878	blood:	n/a	chr5:114937651-114937660 chr5:114937645-114937654
13	STAT1	chr5:114937388-114938350	GM12878	blood:	n/a	n/a
14	RELA	chr5:114937302-114937781	GM12892	blood:	n/a	n/a
15	POLR2A	chr5:114937296-114937706	GM12892	blood:	n/a	n/a
16	ATF2	chr5:114937257-114937744	GM12878	blood:	n/a	n/a
17	BATF	chr5:114937319-114937692	GM12878	blood:	n/a	n/a
18	RELA	chr5:114937343-114937787	GM18526	blood:	n/a	n/a
19	POLR2A	chr5:114937337-114938263	GM12878	blood:	n/a	n/a
20	SP1	chr5:114937346-114937757	GM12878	blood:	n/a	n/a
21	STAT5A	chr5:114937287-114937706	GM12878	blood:	n/a	n/a
22	RUNX3	chr5:114937218-114938783	GM12878	blood:	n/a	chr5:114938232-114938241 chr5:114938232-114938241
23	IRF4	chr5:114937307-114937689	GM12878	blood:	n/a	n/a
24	PML	chr5:114937358-114937729	GM12878	blood:	n/a	n/a
25	TAF1	chr5:114937334-114937701	GM12892	blood:	n/a	n/a
26	MAX	chr5:114937419-114937673	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:114937195-114937832	GM12878	blood:	n/a	n/a
28	CTCF	chr5:114937460-114937610	MCF-7	breast:	n/a	n/a
29	NRF1	chr5:114937361-114937495	H1-hESC	embryonic stem cell:	n/a	n/a
30	NFATC1	chr5:114937163-114937730	GM12878	blood:	n/a	n/a
31	POU2F2	chr5:114937292-114938393	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:114936963-114939112	GM12878	blood:	n/a	n/a
33	NFIC	chr5:114937236-114937709	GM12878	blood:	n/a	n/a
34	RELA	chr5:114937289-114938880	GM12891	blood:	n/a	n/a
35	MAX	chr5:114937353-114938404	A549	lung:	n/a	n/a
36	RELA	chr5:114937243-114937771	GM12878	blood:	n/a	n/a
37	PAX5	chr5:114937369-114938676	GM12878	blood:	n/a	chr5:114938628-114938647
38	EBF1	chr5:114937301-114938035	GM12878	blood:	n/a	n/a
39	TCF3	chr5:114937316-114937726	GM12878	blood:	n/a	n/a
40	STAT5A	chr5:114937276-114938942	GM12878	blood:	n/a	n/a
41	PML	chr5:114937254-114938639	GM12878	blood:	n/a	n/a
42	ZBTB7A	chr5:114937355-114938368	ECC-1	luminal epithelium:	n/a	n/a
43	CHD2	chr5:114937393-114938625	GM12878	blood:	n/a	chr5:114937623-114937633
44	YY1	chr5:114937337-114937898	GM12891	blood:	n/a	chr5:114937621-114937635
45	POLR2A	chr5:114937263-114938526	GM18951	blood:	n/a	n/a
46	RCOR1	chr5:114937365-114938502	GM12878	blood:	n/a	n/a
47	FOXM1	chr5:114937298-114938458	GM12878	blood:	n/a	n/a
48	POLR2A	chr5:114937345-114938523	GM12891	blood:	n/a	n/a
49	TCF3	chr5:114937340-114938287	GM12878	blood:	n/a	n/a
50	CTCF	chr5:114937420-114937570	SAEC	small airway:	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
ENSG00000243414	Chromatin interaction
ENSG00000134970	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114935800-114938400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:114936000-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:114936000-114938400	Active TSS	Aorta	Aorta
4	chr5:114936400-114938200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:114936400-114938400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:114936600-114937600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr5:114936600-114938400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:114936600-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:114936600-114938400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:114936600-114938400	Active TSS	NHLF	lung
11	chr5:114936800-114938400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:114936800-114938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:114936800-114938400	Active TSS	Brain Hippocampus Middle	brain
14	chr5:114936800-114938400	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr5:114936800-114938400	Weak transcription	Dnd41	blood
16	chr5:114936800-114938400	Active TSS	HSMM	muscle
17	chr5:114936800-114938400	Active TSS	NH-A	brain
18	chr5:114936800-114938400	Active TSS	NHDF-Ad	bronchial
19	chr5:114936800-114938600	Active TSS	Right Atrium	heart
20	chr5:114937000-114937600	Flanking Active TSS	Fetal Brain Female	brain
21	chr5:114937000-114937600	Flanking Active TSS	HUVEC	blood vessel
22	chr5:114937000-114938000	Active TSS	Thymus	Thymus
23	chr5:114937000-114938400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:114937000-114938400	Active TSS	Fetal Intestine Large	intestine
25	chr5:114937000-114938400	Active TSS	Fetal Intestine Small	intestine
26	chr5:114937000-114938400	Active TSS	Fetal Kidney	kidney
27	chr5:114937000-114938400	Active TSS	Right Ventricle	heart
28	chr5:114937000-114938400	Active TSS	K562	blood
29	chr5:114937000-114938400	Active TSS	Osteobl	bone
30	chr5:114937000-114938600	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr5:114937000-114938600	Active TSS	Fetal Lung	lung
32	chr5:114937000-114938600	Active TSS	Psoas Muscle	Psoas
33	chr5:114937000-114939000	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr5:114937000-114939000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:114937000-114939000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:114937200-114937600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:114937200-114937600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr5:114937200-114937600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr5:114937200-114937600	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr5:114937200-114937600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr5:114937200-114937600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:114937200-114937600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr5:114937200-114937600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr5:114937200-114937600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:114937200-114937600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr5:114937200-114937600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:114937200-114937600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:114937200-114937600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:114937200-114938000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr5:114937200-114938000	Active TSS	Brain Germinal Matrix	brain

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