Variant report

Variant	rs73254595
Chromosome Location	chr5:114938360-114938361
allele	C/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	RCOR1	chr5:114938085-114938386	K562	blood:	n/a	n/a
2	ZNF384	chr5:114937915-114938635	K562	blood:	n/a	n/a
3	BCLAF1	chr5:114937314-114938529	GM12878	blood:	n/a	chr5:114937585-114937594
4	POLR2A	chr5:114937337-114938493	GM15510	blood:	n/a	n/a
5	POLR2A	chr5:114937251-114938986	GM12892	blood:	n/a	n/a
6	CTCF	chr5:114938340-114938490	HRPEpiC	eye:	n/a	n/a
7	CHD1	chr5:114937799-114938757	GM12878	blood:	n/a	n/a
8	BCLAF1	chr5:114937744-114938571	GM12878	blood:	n/a	n/a
9	MYC	chr5:114937506-114938422	NB4	blood:	n/a	n/a
10	RELA	chr5:114937998-114938967	GM19099	blood:	n/a	n/a
11	CUX1	chr5:114938267-114938514	K562	blood:	n/a	n/a
12	MTA3	chr5:114937716-114938677	GM12878	blood:	n/a	n/a
13	IKZF1	chr5:114938201-114938591	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:114937659-114938372	ProgFib	skin:	n/a	n/a
15	WRNIP1	chr5:114938159-114939129	GM12878	blood:	n/a	n/a
16	RUNX3	chr5:114937218-114938783	GM12878	blood:	n/a	chr5:114938232-114938241 chr5:114938232-114938241
17	POLR2A	chr5:114937927-114938541	GM12892	blood:	n/a	n/a
18	POLR2A	chr5:114937699-114938398	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr5:114938240-114938390	HAc	cerebellar:	n/a	n/a
20	CTCF	chr5:114938320-114938470	BJ	skin:	n/a	n/a
21	BHLHE40	chr5:114938084-114938417	K562	blood:	n/a	n/a
22	YY1	chr5:114937913-114938378	GM12892	blood:	n/a	n/a
23	POU2F2	chr5:114937292-114938393	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:114936963-114939112	GM12878	blood:	n/a	n/a
25	SPI1	chr5:114938004-114938375	HL-60	blood:	n/a	chr5:114938240-114938249
26	RELA	chr5:114937289-114938880	GM12891	blood:	n/a	n/a
27	MAX	chr5:114937353-114938404	A549	lung:	n/a	n/a
28	MAX	chr5:114937495-114938382	K562	blood:	n/a	n/a
29	ATF2	chr5:114937958-114938507	GM12878	blood:	n/a	n/a
30	PAX5	chr5:114937369-114938676	GM12878	blood:	n/a	chr5:114938628-114938647
31	STAT5A	chr5:114937276-114938942	GM12878	blood:	n/a	n/a
32	PML	chr5:114937254-114938639	GM12878	blood:	n/a	n/a
33	MAX	chr5:114937614-114938439	NB4	blood:	n/a	n/a
34	POU2F2	chr5:114937951-114938553	GM12891	blood:	n/a	n/a
35	CTCF	chr5:114938280-114938430	HPAF	blood vessel:	n/a	n/a
36	POLR2A	chr5:114937676-114938420	Gliobla	brain:	n/a	n/a
37	CTCF	chr5:114938360-114938510	AoAF	blood vessel:	n/a	n/a
38	ZBTB7A	chr5:114937355-114938368	ECC-1	luminal epithelium:	n/a	n/a
39	CHD2	chr5:114937393-114938625	GM12878	blood:	n/a	chr5:114937623-114937633
40	POLR2A	chr5:114937263-114938526	GM18951	blood:	n/a	n/a
41	RCOR1	chr5:114937365-114938502	GM12878	blood:	n/a	n/a
42	SPI1	chr5:114938044-114938400	GM12878	blood:	n/a	chr5:114938240-114938249
43	FOXM1	chr5:114937298-114938458	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:114937345-114938523	GM12891	blood:	n/a	n/a
45	POLR2A	chr5:114937296-114938537	GM18526	blood:	n/a	n/a
46	NFIC	chr5:114937791-114938697	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:114937263-114938808	GM18505	blood:	n/a	n/a
48	POLR2A	chr5:114935210-114941425	K562	blood:	n/a	n/a
49	POLR2A	chr5:114937261-114938826	GM19099	blood:	n/a	n/a
50	EP300	chr5:114938007-114938363	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:

Variant related genes	Relation type
ENSG00000249249	TF binding region
TICAM2	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000251201	Chromatin interaction
ENSG00000134970	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs56774716	0.90[AFR][1000 genomes]
rs57651143	0.90[AFR][1000 genomes]
rs57806423	0.90[AFR][1000 genomes]
rs58527582	1.00[AFR][1000 genomes]
rs58575550	0.90[AFR][1000 genomes]
rs58727668	1.00[AFR][1000 genomes]
rs59498080	0.90[AFR][1000 genomes]
rs60230535	0.90[AFR][1000 genomes]
rs60326995	0.90[AFR][1000 genomes]
rs6873889	1.00[AFR][1000 genomes]
rs73254564	0.80[AFR][1000 genomes]
rs73254573	1.00[AFR][1000 genomes]
rs73254575	1.00[AFR][1000 genomes]
rs73254578	1.00[AFR][1000 genomes]
rs73254581	0.80[AFR][1000 genomes]
rs73254582	1.00[AFR][1000 genomes]
rs73254585	1.00[AFR][1000 genomes]
rs73254587	1.00[AFR][1000 genomes]
rs73254592	1.00[AFR][1000 genomes]
rs73254599	1.00[AFR][1000 genomes]
rs73254601	0.91[AFR][1000 genomes]
rs73256603	0.91[AFR][1000 genomes]
rs73260535	1.00[AFR][1000 genomes]
rs73260536	1.00[AFR][1000 genomes]
rs73260539	0.86[AFR][1000 genomes]
rs73260540	0.90[AFR][1000 genomes]
rs73260542	0.90[AFR][1000 genomes]
rs73260543	0.90[AFR][1000 genomes]
rs73260545	0.90[AFR][1000 genomes]
rs73260548	0.90[AFR][1000 genomes]
rs73260552	0.90[AFR][1000 genomes]
rs73260555	0.90[AFR][1000 genomes]
rs73260556	0.90[AFR][1000 genomes]
rs73260562	0.90[AFR][1000 genomes]
rs73260563	0.90[AFR][1000 genomes]
rs73260565	0.90[AFR][1000 genomes]
rs73260567	0.90[AFR][1000 genomes]
rs73260572	0.90[AFR][1000 genomes]
rs73260574	0.90[AFR][1000 genomes]
rs73260579	0.90[AFR][1000 genomes]
rs73260580	0.90[AFR][1000 genomes]
rs73260583	0.90[AFR][1000 genomes]
rs73260584	0.90[AFR][1000 genomes]
rs73260585	0.90[AFR][1000 genomes]
rs73260586	0.90[AFR][1000 genomes]
rs73264716	0.90[AFR][1000 genomes]
rs73264723	0.90[AFR][1000 genomes]
rs73264732	0.90[AFR][1000 genomes]
rs7341161	0.90[AFR][1000 genomes]
rs7722595	0.90[AFR][1000 genomes]
rs7722614	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:125 , 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	chr5:114936400-114938400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:114936600-114938400	Active TSS	Muscle Satellite Cultured Cells	--
6	chr5:114936600-114938400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:114936600-114938400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr5:114936600-114938400	Active TSS	NHLF	lung
9	chr5:114936800-114938400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:114936800-114938400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:114936800-114938400	Active TSS	Brain Hippocampus Middle	brain
12	chr5:114936800-114938400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr5:114936800-114938400	Weak transcription	Dnd41	blood
14	chr5:114936800-114938400	Active TSS	HSMM	muscle
15	chr5:114936800-114938400	Active TSS	NH-A	brain
16	chr5:114936800-114938400	Active TSS	NHDF-Ad	bronchial
17	chr5:114936800-114938600	Active TSS	Right Atrium	heart
18	chr5:114937000-114938400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:114937000-114938400	Active TSS	Fetal Intestine Large	intestine
20	chr5:114937000-114938400	Active TSS	Fetal Intestine Small	intestine
21	chr5:114937000-114938400	Active TSS	Fetal Kidney	kidney
22	chr5:114937000-114938400	Active TSS	Right Ventricle	heart
23	chr5:114937000-114938400	Active TSS	K562	blood
24	chr5:114937000-114938400	Active TSS	Osteobl	bone
25	chr5:114937000-114938600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr5:114937000-114938600	Active TSS	Fetal Lung	lung
27	chr5:114937000-114938600	Active TSS	Psoas Muscle	Psoas
28	chr5:114937000-114939000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr5:114937000-114939000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:114937000-114939000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:114937200-114938400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:114937200-114938400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:114937200-114938400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:114937200-114938400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:114937200-114938400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:114937200-114938400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:114937200-114938400	Active TSS	Adipose Nuclei	Adipose
38	chr5:114937200-114938400	Active TSS	Placenta	Placenta
39	chr5:114937200-114938400	Active TSS	Fetal Stomach	stomach
40	chr5:114937200-114938400	Active TSS	Left Ventricle	heart
41	chr5:114937200-114938400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr5:114937200-114938400	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr5:114937200-114938400	Active TSS	Stomach Smooth Muscle	stomach
44	chr5:114937200-114938400	Active TSS	GM12878-XiMat	blood
45	chr5:114937200-114938400	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:114937200-114938600	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:114937200-114938600	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:114937200-114938600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:114937200-114938600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:114937200-114938600	Active TSS	Brain Substantia Nigra	brain

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