Variant report

Variant	rs73125912
Chromosome Location	chr5:79421906-79421907
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	SPI1	chr5:79421649-79422207	GM12891	blood:	n/a	n/a
2	STAT5A	chr5:79421219-79422238	GM12878	blood:	n/a	chr5:79421659-79421667 chr5:79421836-79421845 chr5:79421837-79421846
3	NFATC1	chr5:79420939-79422309	GM12878	blood:	n/a	n/a
4	JUND	chr5:79421029-79422566	GM12878	blood:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421846 chr5:79421835-79421847
5	MAX	chr5:79420751-79422412	GM12878	blood:	n/a	chr5:79420856-79420875 chr5:79421837-79421846 chr5:79421836-79421845 chr5:79420861-79420870 chr5:79420860-79420871
6	IRF4	chr5:79421035-79422242	GM12878	blood:	n/a	n/a
7	SP1	chr5:79421579-79422245	HCT-116	colon:	n/a	n/a
8	POU2F2	chr5:79421171-79422054	GM12891	blood:	n/a	chr5:79421456-79421469
9	RCOR1	chr5:79420630-79422579	GM12878	blood:	n/a	n/a
10	FOXM1	chr5:79420863-79422481	GM12878	blood:	n/a	n/a
11	PML	chr5:79421040-79422414	GM12878	blood:	n/a	chr5:79421838-79421847
12	MEF2A	chr5:79421147-79422261	GM12878	blood:	n/a	n/a
13	CHD1	chr5:79421059-79422462	GM12878	blood:	n/a	n/a
14	JUND	chr5:79421576-79422123	SK-N-SH	brain:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421846 chr5:79421835-79421847
15	BCL11A	chr5:79421586-79422425	GM12878	blood:	n/a	chr5:79421836-79421845 chr5:79421837-79421846
16	FOSL1	chr5:79421502-79422164	HCT-116	colon:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
17	FOS	chr5:79421694-79422238	MCF10A-Er-Src	breast:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
18	FOSL2	chr5:79421579-79422146	SK-N-SH	brain:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
19	RELA	chr5:79420526-79422445	GM19099	blood:	n/a	n/a
20	CEBPB	chr5:79421808-79422109	GM12878	blood:	n/a	n/a
21	BCLAF1	chr5:79421053-79422333	GM12878	blood:	n/a	chr5:79421836-79421845 chr5:79421837-79421846
22	TBP	chr5:79421086-79422455	GM12878	blood:	n/a	n/a
23	TCF3	chr5:79421833-79422065	GM12878	blood:	n/a	n/a
24	BHLHE40	chr5:79420700-79422430	GM12878	blood:	n/a	chr5:79420861-79420870 chr5:79420860-79420869 chr5:79420861-79420870 chr5:79420859-79420872
25	PBX3	chr5:79421589-79422092	SK-N-SH	brain:	n/a	n/a
26	CUX1	chr5:79421116-79422469	GM12878	blood:	n/a	n/a
27	EBF1	chr5:79421776-79422267	GM12878	blood:	n/a	n/a
28	PBX3	chr5:79421738-79421932	GM12878	blood:	n/a	n/a
29	EP300	chr5:79421673-79422005	SK-N-SH_RA	brain:	n/a	chr5:79421837-79421846 chr5:79421836-79421845
30	MTA3	chr5:79420685-79422477	GM12878	blood:	n/a	n/a
31	BATF	chr5:79421593-79422440	GM12878	blood:	n/a	n/a
32	IRF4	chr5:79420944-79422406	GM12878	blood:	n/a	n/a
33	SPI1	chr5:79421681-79422242	GM12891	blood:	n/a	n/a
34	POLR2A	chr5:79421591-79422370	U87	brain:	n/a	n/a
35	FOS	chr5:79421672-79422009	MCF10A-Er-Src	breast:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
36	BCL3	chr5:79421723-79422179	GM12878	blood:	n/a	chr5:79421836-79421845 chr5:79421837-79421846
37	SPI1	chr5:79420891-79422558	GM12878	blood:	n/a	n/a
38	NFATC1	chr5:79421085-79422223	GM12878	blood:	n/a	n/a
39	CREB1	chr5:79421117-79422231	GM12878	blood:	n/a	n/a
40	BCLAF1	chr5:79420928-79422356	GM12878	blood:	n/a	chr5:79421836-79421845 chr5:79421837-79421846
41	TBL1XR1	chr5:79420743-79422402	GM12878	blood:	n/a	n/a
42	ZNF143	chr5:79421291-79422416	GM12878	blood:	n/a	n/a
43	RUNX3	chr5:79420750-79422570	GM12878	blood:	n/a	chr5:79422238-79422247 chr5:79422238-79422247
44	FOS	chr5:79421706-79422023	MCF10A-Er-Src	breast:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
45	ATF2	chr5:79420979-79422560	GM12878	blood:	n/a	n/a
46	PAX5	chr5:79421724-79422115	GM12878	blood:	n/a	n/a
47	BATF	chr5:79421687-79422272	GM12878	blood:	n/a	n/a
48	POU2F2	chr5:79420989-79422225	GM12878	blood:	n/a	chr5:79421456-79421469
49	FOSL1	chr5:79421551-79422089	HCT-116	colon:	n/a	chr5:79421837-79421846 chr5:79421838-79421845 chr5:79421836-79421846 chr5:79421837-79421845 chr5:79421835-79421847
50	NFIC	chr5:79420777-79422612	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79414738..79417325-chr5:79420437..79423118,2	K562	blood:

Variant related genes	Relation type
ENSG00000251675	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58965928	0.82[AFR][1000 genomes]
rs73125913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73125929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432748	chr5:79300434-79577760	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv598744	chr5:79388745-79423347	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79407400-79424000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:79410000-79430800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:79412600-79424200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:79417000-79437000	Weak transcription	Pancreas	Pancrea
5	chr5:79417400-79425400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:79417400-79430400	Weak transcription	Dnd41	blood
7	chr5:79418200-79422200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:79418200-79424000	Weak transcription	Fetal Stomach	stomach
9	chr5:79418600-79423200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:79419200-79422000	Weak transcription	Small Intestine	intestine
11	chr5:79419200-79422400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:79419400-79423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:79419600-79422400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:79419600-79423000	Genic enhancers	Primary T cells from cord blood	blood
15	chr5:79419600-79423000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:79419600-79435200	Weak transcription	Liver	Liver
17	chr5:79420400-79422200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:79420400-79423200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:79420600-79422200	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:79420600-79422200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:79420600-79422600	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:79420600-79424000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:79420800-79424000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:79420800-79437000	Weak transcription	Lung	lung
25	chr5:79421000-79423000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:79421000-79437000	Weak transcription	Fetal Brain Male	brain
27	chr5:79421200-79422000	Weak transcription	Right Ventricle	heart
28	chr5:79421200-79424000	Weak transcription	Placenta	Placenta
29	chr5:79421200-79435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:79421200-79436800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:79421400-79422000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:79421400-79422000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:79421400-79422000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:79421400-79422200	Enhancers	HMEC	breast
35	chr5:79421400-79422600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:79421400-79423000	Enhancers	HSMM	muscle
37	chr5:79421400-79423400	Enhancers	HSMMtube	muscle
38	chr5:79421400-79424600	Enhancers	NHDF-Ad	bronchial
39	chr5:79421600-79422000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:79421600-79422400	Flanking Active TSS	NH-A	brain
41	chr5:79421600-79422600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:79421600-79423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:79421600-79423000	Weak transcription	Fetal Intestine Small	intestine
44	chr5:79421600-79423600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:79421600-79424000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:79421600-79428600	Weak transcription	Thymus	Thymus
47	chr5:79421600-79435800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:79421600-79438800	Weak transcription	Esophagus	oesophagus
49	chr5:79421800-79422000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr5:79421800-79422000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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