Variant report

Variant	rs72643751
Chromosome Location	chr5:5421534-5421535
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	GATA1	chr5:5420982-5423236	PBDE	blood:	n/a	chr5:5421964-5421971 chr5:5421964-5421971 chr5:5421962-5421972 chr5:5421962-5421971 chr5:5421957-5421978 chr5:5421964-5421971 chr5:5421959-5421975 chr5:5421953-5421970
2	SPI1	chr5:5421232-5421670	GM12891	blood:	n/a	chr5:5421471-5421484 chr5:5421309-5421322 chr5:5421472-5421485 chr5:5421472-5421485 chr5:5421308-5421321
3	MAX	chr5:5421446-5423004	K562	blood:	n/a	n/a
4	SPI1	chr5:5421253-5421601	GM12891	blood:	n/a	chr5:5421471-5421484 chr5:5421309-5421322 chr5:5421472-5421485 chr5:5421472-5421485 chr5:5421308-5421321
5	SMARCB1	chr5:5421156-5423586	Hela-S3	cervix:	n/a	chr5:5422368-5422377
6	MYC	chr5:5421323-5422740	K562	blood:	n/a	n/a
7	BHLHE40	chr5:5421365-5422756	K562	blood:	n/a	chr5:5422346-5422362
8	POLR2A	chr5:5421215-5422717	K562	blood:	n/a	n/a
9	RUNX3	chr5:5421351-5422850	GM12878	blood:	n/a	n/a
10	TCF3	chr5:5421499-5421723	GM12878	blood:	n/a	chr5:5421512-5421525 chr5:5421636-5421649 chr5:5421639-5421653
11	POLR2A	chr5:5421284-5422986	K562	blood:	n/a	n/a
12	POLR2A	chr5:5421036-5423482	GM18505	blood:	n/a	n/a
13	TAL1	chr5:5421251-5422726	K562	blood:	n/a	n/a
14	POLR2A	chr5:5421461-5423518	GM18951	blood:	n/a	n/a
15	POLR2A	chr5:5421140-5423232	Raji	blood:	n/a	n/a
16	CUX1	chr5:5421097-5421800	K562	blood:	n/a	n/a
17	MAX	chr5:5421279-5423193	A549	lung:	n/a	n/a
18	MTA3	chr5:5421323-5422803	GM12878	blood:	n/a	n/a
19	USF1	chr5:5421371-5421587	SK-N-SH_RA	brain:	n/a	chr5:5421419-5421430
20	POLR2A	chr5:5421360-5423355	GM12892	blood:	n/a	n/a
21	USF1	chr5:5421257-5421679	K562	blood:	n/a	chr5:5421419-5421430
22	SPI1	chr5:5421158-5421807	HL-60	blood:	n/a	chr5:5421471-5421484 chr5:5421309-5421322 chr5:5421472-5421485 chr5:5421472-5421485 chr5:5421308-5421321
23	SPI1	chr5:5421332-5421595	K562	blood:	n/a	chr5:5421471-5421484 chr5:5421472-5421485 chr5:5421472-5421485
24	POLR2A	chr5:5421425-5422004	K562	blood:	n/a	n/a
25	SPI1	chr5:5421328-5421642	HL-60	blood:	n/a	chr5:5421471-5421484 chr5:5421472-5421485 chr5:5421472-5421485
26	POLR2A	chr5:5421212-5422581	GM12878	blood:	n/a	n/a
27	MXI1	chr5:5421180-5423239	GM12878	blood:	n/a	chr5:5422215-5422230
28	POLR2A	chr5:5421271-5422649	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:5421258-5423155	K562	blood:	n/a	n/a
30	POLR2A	chr5:5421328-5423140	GM12878	blood:	n/a	n/a
31	MAX	chr5:5421448-5421703	GM12878	blood:	n/a	n/a
32	GABPA	chr5:5421339-5421688	K562	blood:	n/a	n/a
33	TBP	chr5:5421244-5422972	K562	blood:	n/a	n/a
34	MAX	chr5:5421448-5422785	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:5421424-5423038	K562	blood:	n/a	n/a
36	MYC	chr5:5421118-5423218	K562	blood:	n/a	n/a
37	STAT1	chr5:5421392-5423472	Hela-S3	cervix:	n/a	chr5:5422343-5422355 chr5:5421842-5421850
38	POLR2A	chr5:5421472-5421688	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:5421315-5424244	MCF10A-Er-Src	breast:	n/a	n/a
40	USF2	chr5:5421300-5421594	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:5420943-5423880	GM12891	blood:	n/a	n/a
42	POLR2A	chr5:5421490-5423189	GM19193	blood:	n/a	n/a
43	RUNX3	chr5:5421458-5422948	GM12878	blood:	n/a	n/a
44	POLR2A	chr5:5421272-5423053	K562	blood:	n/a	n/a
45	ELF1	chr5:5421391-5421684	K562	blood:	n/a	n/a
46	POLR2A	chr5:5421342-5423742	K562	blood:	n/a	n/a
47	RCOR1	chr5:5421462-5422739	K562	blood:	n/a	n/a
48	POLR2A	chr5:5421038-5423860	GM12878	blood:	n/a	n/a
49	USF1	chr5:5421301-5421562	A549	lung:	n/a	chr5:5421419-5421430
50	MAX	chr5:5421460-5421752	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5140550..5142104-chr5:5420363..5422226,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED10-16	chr5:5421516-5421919	NONHSAT100175

Variant related genes	Relation type
KIAA0947	TF binding region
ENSG00000145536	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12659887	0.93[EUR][1000 genomes]
rs60016681	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60221804	1.00[EUR][1000 genomes]
rs62000446	0.93[EUR][1000 genomes]
rs72643752	0.93[EUR][1000 genomes]
rs72643753	0.93[EUR][1000 genomes]
rs72643754	0.93[EUR][1000 genomes]
rs747515	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021802	chr5:5415877-5452886	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:5416200-5421600	Enhancers	NH-A	brain
2	chr5:5417000-5421600	Weak transcription	Aorta	Aorta
3	chr5:5418400-5421600	Enhancers	HSMMtube	muscle
4	chr5:5419400-5421600	Flanking Active TSS	GM12878-XiMat	blood
5	chr5:5420000-5421600	Enhancers	HSMM	muscle
6	chr5:5420200-5421600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:5420200-5421800	Weak transcription	Ovary	ovary
8	chr5:5420800-5421600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:5421000-5421600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:5421000-5421600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr5:5421000-5421600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:5421000-5421600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:5421000-5421600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:5421000-5421600	Enhancers	Fetal Muscle Leg	muscle
15	chr5:5421000-5421600	Enhancers	Placenta	Placenta
16	chr5:5421000-5421600	Flanking Active TSS	Pancreas	Pancrea
17	chr5:5421000-5421800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:5421000-5421800	Enhancers	Gastric	stomach
19	chr5:5421000-5421800	Enhancers	Lung	lung
20	chr5:5421000-5421800	Flanking Active TSS	HepG2	liver
21	chr5:5421000-5422000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:5421000-5422000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:5421000-5422000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr5:5421000-5422000	Flanking Active TSS	Dnd41	blood
25	chr5:5421000-5422000	Flanking Active TSS	HMEC	breast
26	chr5:5421000-5422200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:5421000-5422200	Flanking Active TSS	K562	blood
28	chr5:5421000-5422400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:5421000-5423800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr5:5421200-5421600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:5421200-5421600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr5:5421200-5421600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:5421200-5421600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:5421200-5421600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr5:5421200-5421600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr5:5421200-5421600	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:5421200-5421600	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr5:5421200-5421600	Enhancers	HUVEC	blood vessel
39	chr5:5421200-5421800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr5:5421200-5421800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:5421200-5421800	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr5:5421200-5421800	Flanking Active TSS	Fetal Intestine Large	intestine
43	chr5:5421200-5421800	Flanking Active TSS	Fetal Lung	lung
44	chr5:5421200-5421800	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr5:5421200-5421800	Flanking Active TSS	Thymus	Thymus
46	chr5:5421200-5421800	Enhancers	Spleen	Spleen
47	chr5:5421200-5421800	Flanking Active TSS	A549	lung
48	chr5:5421200-5422000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr5:5421200-5422000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:5421200-5422000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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