Variant report

Variant	rs572947720
Chromosome Location	chr15:79244384-79244385
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	FOXA2	chr15:79244091-79244759	HepG2	liver:	n/a	n/a
2	ELF1	chr15:79244290-79244707	HepG2	liver:	n/a	chr15:79244605-79244616 chr15:79244606-79244615
3	TCF7L2	chr15:79243736-79244574	PANC-1	pancreas:	n/a	chr15:79244453-79244462
4	RCOR1	chr15:79244311-79244682	K562	blood:	n/a	n/a
5	FOSL2	chr15:79244177-79244606	HepG2	liver:	n/a	chr15:79244453-79244462
6	SIN3AK20	chr15:79243896-79244887	MCF-7	breast:	n/a	n/a
7	FOS	chr15:79244270-79244610	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
8	FOXA1	chr15:79244212-79244702	HepG2	liver:	n/a	chr15:79244485-79244500
9	ATF3	chr15:79244352-79244507	K562	blood:	n/a	n/a
10	JUND	chr15:79244283-79244617	K562	blood:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
11	GATA3	chr15:79244034-79244862	MCF-7	breast:	n/a	chr15:79244746-79244755 chr15:79244747-79244764 chr15:79244508-79244517 chr15:79244746-79244753 chr15:79244507-79244519 chr15:79244505-79244521
12	STAT3	chr15:79244275-79244602	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
13	STAT3	chr15:79244283-79244562	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
14	SMC3	chr15:79244351-79244629	Hela-S3	cervix:	n/a	n/a
15	MAFF	chr15:79244367-79244567	HepG2	liver:	n/a	n/a
16	NR2F2	chr15:79244168-79244595	MCF-7	breast:	n/a	n/a
17	MAFK	chr15:79244341-79244573	HepG2	liver:	n/a	n/a
18	EP300	chr15:79244201-79244502	HepG2	liver:	n/a	n/a
19	FOS	chr15:79244289-79244558	HUVEC	blood vessel:	n/a	chr15:79244453-79244462
20	SMC3	chr15:79244361-79244561	HepG2	liver:	n/a	n/a
21	GATA2	chr15:79244099-79244622	HUVEC	blood vessel:	n/a	chr15:79244508-79244517 chr15:79244507-79244519 chr15:79244505-79244521
22	FOXA2	chr15:79244116-79244685	A549	lung:	n/a	n/a
23	CTCF	chr15:79244240-79244390	SAEC	small airway:	n/a	n/a
24	FOS	chr15:79244275-79244643	Hela-S3	cervix:	n/a	chr15:79244453-79244462
25	FOS	chr15:79244277-79244644	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
26	ARID3A	chr15:79244305-79244636	HepG2	liver:	n/a	n/a
27	CEBPB	chr15:79244303-79244635	IMR90	lung:	n/a	n/a
28	CEBPB	chr15:79244279-79244669	Hela-S3	cervix:	n/a	n/a
29	FOXA2	chr15:79243947-79244776	A549	lung:	n/a	n/a
30	GATA3	chr15:79244094-79244806	MCF-7	breast:	n/a	chr15:79244746-79244755 chr15:79244747-79244764 chr15:79244508-79244517 chr15:79244746-79244753 chr15:79244507-79244519 chr15:79244505-79244521
31	CEBPB	chr15:79244236-79244630	A549	lung:	n/a	n/a
32	FOXA1	chr15:79244336-79244576	T-47D	breast:	n/a	chr15:79244485-79244500
33	FOXA1	chr15:79244173-79244605	HepG2	liver:	n/a	chr15:79244485-79244500
34	JUND	chr15:79244139-79244649	HepG2	liver:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
35	TEAD4	chr15:79244263-79244597	K562	blood:	n/a	n/a
36	JUN	chr15:79244052-79244795	K562	blood:	n/a	chr15:79244453-79244462
37	JUND	chr15:79244280-79244561	HepG2	liver:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
38	SP1	chr15:79244210-79244608	A549	lung:	n/a	n/a
39	EP300	chr15:79244239-79244635	HepG2	liver:	n/a	chr15:79244606-79244613
40	HDAC2	chr15:79244291-79244688	HepG2	liver:	n/a	n/a
41	NFIC	chr15:79244261-79244610	HepG2	liver:	n/a	n/a
42	FOXA2	chr15:79244294-79244625	HepG2	liver:	n/a	n/a
43	FOSL2	chr15:79244292-79244584	A549	lung:	n/a	chr15:79244453-79244462
44	CEBPB	chr15:79244293-79244632	HepG2	liver:	n/a	n/a
45	MEF2A	chr15:79244200-79244565	K562	blood:	n/a	chr15:79244453-79244461 chr15:79244551-79244559
46	ELF1	chr15:79244324-79244614	HepG2	liver:	n/a	n/a
47	FOS	chr15:79244287-79244571	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
48	FOSL2	chr15:79244186-79244579	HepG2	liver:	n/a	chr15:79244453-79244462
49	RAD21	chr15:79244327-79244596	Hela-S3	cervix:	n/a	n/a
50	MEF2A	chr15:79244244-79244594	K562	blood:	n/a	chr15:79244453-79244461 chr15:79244551-79244559

No.	Distal block	Cell Line	Cell type
1	chr15:79198022..79200286-chr15:79243264..79245188,2	K562	blood:
2	chr15:79242855..79244395-chr15:79271553..79274104,2	MCF-7	breast:
3	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
4	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:
5	chr15:79244340..79246222-chr15:79252129..79254810,2	K562	blood:
6	chr15:79238657..79240315-chr15:79242629..79245251,2	K562	blood:

Variant related genes	Relation type
CTSH	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
3	chr15:79241000-79245200	Enhancers	Liver	Liver
4	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
5	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine
6	chr15:79242000-79245400	Enhancers	Duodenum Mucosa	Duodenum
7	chr15:79242200-79244400	Enhancers	Fetal Kidney	kidney
8	chr15:79242200-79244800	Enhancers	Lung	lung
9	chr15:79242400-79244400	Enhancers	Adipose Nuclei	Adipose
10	chr15:79242400-79244800	Enhancers	Left Ventricle	heart
11	chr15:79242600-79245000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr15:79243000-79244600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:79243200-79244600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:79243200-79244600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:79243200-79244600	Enhancers	A549	lung
16	chr15:79243200-79244600	Enhancers	GM12878-XiMat	blood
17	chr15:79243200-79244800	Enhancers	HMEC	breast
18	chr15:79243200-79245000	Enhancers	Primary B cells from peripheral blood	blood
19	chr15:79243200-79245000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:79243200-79245400	Enhancers	Hela-S3	cervix
21	chr15:79243400-79244400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr15:79243400-79244600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:79243400-79244600	Enhancers	Fetal Lung	lung
24	chr15:79243400-79244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr15:79243400-79244800	Enhancers	Ovary	ovary
26	chr15:79243600-79244400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:79243600-79244400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:79243600-79244400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:79243600-79244400	Enhancers	Small Intestine	intestine
30	chr15:79243600-79244400	Enhancers	HSMM	muscle
31	chr15:79243600-79244400	Enhancers	HUVEC	blood vessel
32	chr15:79243600-79244400	Enhancers	NH-A	brain
33	chr15:79243600-79244400	Enhancers	Osteobl	bone
34	chr15:79243600-79244600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:79243600-79244600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:79243600-79244800	Enhancers	Primary B cells from cord blood	blood
37	chr15:79243600-79244800	Enhancers	Right Atrium	heart
38	chr15:79243600-79245000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:79243600-79245400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr15:79243800-79244400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:79243800-79244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:79243800-79244400	Enhancers	Primary hematopoietic stem cells	blood
43	chr15:79243800-79244400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:79243800-79244400	Enhancers	Aorta	Aorta
45	chr15:79243800-79244400	Weak transcription	Spleen	Spleen
46	chr15:79243800-79244600	Enhancers	HSMMtube	muscle
47	chr15:79243800-79244800	Enhancers	Placenta	Placenta
48	chr15:79243800-79245000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:79244000-79244400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr15:79244000-79244400	Enhancers	Primary T cells fromperipheralblood	blood

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