Variant report

Variant	rs56248706
Chromosome Location	chr15:40398753-40398754
allele	-/AT
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	ATF2	chr15:40398654-40399073	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr15:40398661-40399400	K562	blood:	n/a	n/a
3	CUX1	chr15:40398639-40399431	K562	blood:	n/a	n/a
4	SIN3A	chr15:40398608-40399273	H1-hESC	embryonic stem cell:	n/a	chr15:40398872-40398883 chr15:40398803-40398816
5	FOXA1	chr15:40398661-40399032	HepG2	liver:	n/a	n/a
6	SPI1	chr15:40398687-40399511	GM12878	blood:	n/a	chr15:40399266-40399275 chr15:40399180-40399189
7	TBP	chr15:40398697-40398948	K562	blood:	n/a	n/a
8	POLR2A	chr15:40397095-40399385	GM12878	blood:	n/a	n/a
9	CEBPB	chr15:40398736-40399085	A549	lung:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
10	EP300	chr15:40398695-40399137	Hela-S3	cervix:	n/a	n/a
11	EP300	chr15:40398618-40399150	HepG2	liver:	n/a	n/a
12	CEBPB	chr15:40398640-40399309	ECC-1	luminal epithelium:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
13	SMC3	chr15:40398731-40399270	HepG2	liver:	n/a	n/a
14	CEBPB	chr15:40398719-40399131	HepG2	liver:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
15	IRF1	chr15:40398602-40399413	K562	blood:	n/a	chr15:40399179-40399188 chr15:40398866-40398880 chr15:40399180-40399190 chr15:40398816-40398828
16	MAFK	chr15:40398661-40398861	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:40398709-40399059	HepG2	liver:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
18	POLR2A	chr15:40398530-40399237	SK-N-MC	brain:	n/a	n/a
19	TBL1XR1	chr15:40398622-40399353	K562	blood:	n/a	n/a
20	POLR2A	chr15:40398744-40399111	HepG2	liver:	n/a	n/a
21	POLR2A	chr15:40396993-40399173	K562	blood:	n/a	n/a
22	CEBPB	chr15:40398699-40399147	A549	lung:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
23	CEBPB	chr15:40398603-40399310	K562	blood:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
24	TCF12	chr15:40398664-40399102	H1-hESC	embryonic stem cell:	n/a	chr15:40398876-40398886
25	RFX5	chr15:40398742-40399071	K562	blood:	n/a	n/a
26	RCOR1	chr15:40398292-40399452	K562	blood:	n/a	n/a
27	KAP1	chr15:40398497-40399261	HEK293	kidney:	n/a	n/a
28	ZMIZ1	chr15:40398679-40399267	K562	blood:	n/a	n/a
29	RUNX3	chr15:40398736-40399438	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:40396998-40399990	GM19193	blood:	n/a	n/a
31	RUNX3	chr15:40396683-40399468	GM12878	blood:	n/a	n/a
32	MAZ	chr15:40398677-40399283	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr15:40398738-40399111	IMR90	lung:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
34	RAD21	chr15:40398599-40399040	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPD	chr15:40398595-40399160	K562	blood:	n/a	chr15:40398909-40398920
36	BHLHE40	chr15:40398455-40399194	K562	blood:	n/a	n/a
37	POLR2A	chr15:40397493-40399454	GM18951	blood:	n/a	n/a
38	CEBPD	chr15:40398462-40399412	K562	blood:	n/a	chr15:40398909-40398920
39	POLR2A	chr15:40396998-40399519	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:40396177-40399852	GM12878	blood:	n/a	n/a
41	BHLHE40	chr15:40398743-40399189	HepG2	liver:	n/a	n/a
42	CCNT2	chr15:40398639-40398952	K562	blood:	n/a	n/a
43	EP300	chr15:40398599-40399420	GM12878	blood:	n/a	chr15:40399378-40399394 chr15:40399175-40399189 chr15:40399176-40399185
44	CEBPB	chr15:40398634-40399380	MCF-7	breast:	n/a	chr15:40398908-40398919 chr15:40398908-40398921
45	POLR2A	chr15:40398530-40399457	HL-60	blood:	n/a	n/a
46	POLR2A	chr15:40398164-40401658	HepG2	liver:	n/a	n/a
47	TAF1	chr15:40398669-40399126	H1-hESC	embryonic stem cell:	n/a	n/a
48	MTA3	chr15:40396603-40399426	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:40397049-40399409	GM19099	blood:	n/a	n/a
50	POLR2A	chr15:40396188-40399776	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40321938..40324558-chr15:40397349..40402797,4	MCF-7	breast:
2	chr15:40329348..40332922-chr15:40394377..40398986,5	MCF-7	breast:
3	chr15:40330945..40332578-chr15:40397344..40399517,2	K562	blood:

Variant related genes	Relation type
BMF	TF binding region
ENSG00000128829	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000248508	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35477346	0.97[EUR][1000 genomes]
rs580781	0.83[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40389200-40400000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr15:40389800-40400400	Enhancers	Small Intestine	intestine
3	chr15:40390400-40399800	Transcr. at gene 5' and 3'	Thymus	Thymus
4	chr15:40391000-40399800	Enhancers	Liver	Liver
5	chr15:40391200-40398800	Enhancers	Placenta	Placenta
6	chr15:40391400-40400000	Enhancers	Stomach Mucosa	stomach
7	chr15:40392000-40400000	Enhancers	Right Atrium	heart
8	chr15:40392000-40400000	Enhancers	Right Ventricle	heart
9	chr15:40392000-40400400	Enhancers	Pancreas	Pancrea
10	chr15:40392200-40400200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:40393800-40399200	Enhancers	Ovary	ovary
12	chr15:40393800-40400200	Enhancers	Esophagus	oesophagus
13	chr15:40394000-40400200	Enhancers	Left Ventricle	heart
14	chr15:40394200-40398800	Enhancers	Gastric	stomach
15	chr15:40394200-40400000	Enhancers	Fetal Intestine Large	intestine
16	chr15:40394200-40400000	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:40394400-40399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:40394800-40400000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:40394800-40400200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:40395000-40400200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:40395200-40399600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr15:40395200-40400200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:40395200-40400200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:40395400-40398800	Enhancers	Fetal Brain Male	brain
25	chr15:40395400-40400400	Flanking Active TSS	GM12878-XiMat	blood
26	chr15:40395600-40399400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr15:40395600-40399800	Enhancers	Fetal Heart	heart
28	chr15:40395800-40399800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr15:40395800-40400000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:40395800-40400200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr15:40396000-40399600	Enhancers	HSMM	muscle
32	chr15:40396200-40398800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr15:40396200-40398800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr15:40396200-40398800	Genic enhancers	Fetal Intestine Small	intestine
35	chr15:40396200-40399000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr15:40396200-40400200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:40396200-40400800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr15:40396400-40400000	Enhancers	A549	lung
39	chr15:40396400-40400200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr15:40396600-40399000	Enhancers	Fetal Kidney	kidney
41	chr15:40396600-40399800	Enhancers	Brain Germinal Matrix	brain
42	chr15:40396600-40400200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr15:40396600-40400400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr15:40396600-40400800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr15:40396800-40399000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr15:40396800-40399200	Weak transcription	Fetal Brain Female	brain
47	chr15:40396800-40399600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr15:40396800-40400200	Enhancers	Primary T cells from cord blood	blood
49	chr15:40396800-40400200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:40396800-40400200	Enhancers	Spleen	Spleen

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