Variant report

Variant	rs372740113
Chromosome Location	chr15:79244406-79244407
allele	A/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	BHLHE40	chr15:79244391-79244551	K562	blood:	n/a	n/a
4	TCF7L2	chr15:79243736-79244574	PANC-1	pancreas:	n/a	chr15:79244453-79244462
5	ELF1	chr15:79244399-79244621	K562	blood:	n/a	chr15:79244605-79244616 chr15:79244606-79244615
6	RCOR1	chr15:79244311-79244682	K562	blood:	n/a	n/a
7	FOSL2	chr15:79244177-79244606	HepG2	liver:	n/a	chr15:79244453-79244462
8	SIN3AK20	chr15:79243896-79244887	MCF-7	breast:	n/a	n/a
9	FOS	chr15:79244270-79244610	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
10	FOXA1	chr15:79244212-79244702	HepG2	liver:	n/a	chr15:79244485-79244500
11	ATF3	chr15:79244352-79244507	K562	blood:	n/a	n/a
12	JUND	chr15:79244283-79244617	K562	blood:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
13	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
14	STAT3	chr15:79244275-79244602	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
15	STAT3	chr15:79244283-79244562	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
16	SMC3	chr15:79244351-79244629	Hela-S3	cervix:	n/a	n/a
17	MAFF	chr15:79244367-79244567	HepG2	liver:	n/a	n/a
18	NR2F2	chr15:79244168-79244595	MCF-7	breast:	n/a	n/a
19	MAFK	chr15:79244341-79244573	HepG2	liver:	n/a	n/a
20	EP300	chr15:79244201-79244502	HepG2	liver:	n/a	n/a
21	FOS	chr15:79244289-79244558	HUVEC	blood vessel:	n/a	chr15:79244453-79244462
22	CEBPB	chr15:79244402-79244559	K562	blood:	n/a	n/a
23	SMC3	chr15:79244361-79244561	HepG2	liver:	n/a	n/a
24	GATA2	chr15:79244099-79244622	HUVEC	blood vessel:	n/a	chr15:79244508-79244517 chr15:79244507-79244519 chr15:79244505-79244521
25	FOXA2	chr15:79244116-79244685	A549	lung:	n/a	n/a
26	FOS	chr15:79244275-79244643	Hela-S3	cervix:	n/a	chr15:79244453-79244462
27	FOS	chr15:79244277-79244644	MCF10A-Er-Src	breast:	n/a	chr15:79244453-79244462
28	ARID3A	chr15:79244305-79244636	HepG2	liver:	n/a	n/a
29	CEBPB	chr15:79244303-79244635	IMR90	lung:	n/a	n/a
30	CEBPB	chr15:79244279-79244669	Hela-S3	cervix:	n/a	n/a
31	FOXA2	chr15:79243947-79244776	A549	lung:	n/a	n/a
32	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
33	CEBPB	chr15:79244236-79244630	A549	lung:	n/a	n/a
34	FOXA1	chr15:79244336-79244576	T-47D	breast:	n/a	chr15:79244485-79244500
35	FOXA1	chr15:79244173-79244605	HepG2	liver:	n/a	chr15:79244485-79244500
36	JUND	chr15:79244139-79244649	HepG2	liver:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
37	TEAD4	chr15:79244263-79244597	K562	blood:	n/a	n/a
38	JUN	chr15:79244052-79244795	K562	blood:	n/a	chr15:79244453-79244462
39	JUND	chr15:79244280-79244561	HepG2	liver:	n/a	chr15:79244451-79244462 chr15:79244453-79244462
40	SP1	chr15:79244210-79244608	A549	lung:	n/a	n/a
41	EP300	chr15:79244239-79244635	HepG2	liver:	n/a	chr15:79244606-79244613
42	HDAC2	chr15:79244291-79244688	HepG2	liver:	n/a	n/a
43	NFIC	chr15:79244261-79244610	HepG2	liver:	n/a	n/a
44	RCOR1	chr15:79244388-79244588	K562	blood:	n/a	n/a
45	FOXA2	chr15:79244294-79244625	HepG2	liver:	n/a	n/a
46	FOSL2	chr15:79244292-79244584	A549	lung:	n/a	chr15:79244453-79244462
47	CEBPB	chr15:79244293-79244632	HepG2	liver:	n/a	n/a
48	MEF2A	chr15:79244200-79244565	K562	blood:	n/a	chr15:79244453-79244461 chr15:79244551-79244559
49	FOXA1	chr15:79244396-79244594	T-47D	breast:	n/a	chr15:79244485-79244500
50	ELF1	chr15:79244324-79244614	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79198022..79200286-chr15:79243264..79245188,2	K562	blood:
2	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
3	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:
4	chr15:79244340..79246222-chr15:79252129..79254810,2	K562	blood:
5	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:47 , 50 per page) page: 1

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	chr15:79242200-79244800	Enhancers	Lung	lung
8	chr15:79242400-79244800	Enhancers	Left Ventricle	heart
9	chr15:79242600-79245000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:79243000-79244600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:79243200-79244600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr15:79243200-79244600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:79243200-79244600	Enhancers	A549	lung
14	chr15:79243200-79244600	Enhancers	GM12878-XiMat	blood
15	chr15:79243200-79244800	Enhancers	HMEC	breast
16	chr15:79243200-79245000	Enhancers	Primary B cells from peripheral blood	blood
17	chr15:79243200-79245000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:79243200-79245400	Enhancers	Hela-S3	cervix
19	chr15:79243400-79244600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:79243400-79244600	Enhancers	Fetal Lung	lung
21	chr15:79243400-79244800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:79243400-79244800	Enhancers	Ovary	ovary
23	chr15:79243600-79244600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:79243600-79244600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:79243600-79244800	Enhancers	Primary B cells from cord blood	blood
26	chr15:79243600-79244800	Enhancers	Right Atrium	heart
27	chr15:79243600-79245000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr15:79243600-79245400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr15:79243800-79244600	Enhancers	HSMMtube	muscle
30	chr15:79243800-79244800	Enhancers	Placenta	Placenta
31	chr15:79243800-79245000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:79244000-79244600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:79244000-79244800	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr15:79244000-79263400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:79244200-79244600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr15:79244200-79244600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:79244200-79244600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr15:79244200-79244600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:79244200-79244600	Enhancers	Fetal Intestine Small	intestine
41	chr15:79244200-79244600	Enhancers	Psoas Muscle	Psoas
42	chr15:79244200-79244600	Flanking Active TSS	HepG2	liver
43	chr15:79244200-79249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr15:79244200-79253400	Weak transcription	Brain Angular Gyrus	brain
45	chr15:79244400-79244600	Enhancers	Spleen	Spleen
46	chr15:79244400-79245000	Enhancers	NHEK	skin
47	chr15:79244400-79247600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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