Variant report

Variant	rs56052948
Chromosome Location	chr15:75506681-75506682
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	BCLAF1	chr15:75505652-75508826	GM12878	blood:	n/a	chr15:75507383-75507390 chr15:75507561-75507574
2	POLR2A	chr15:75505563-75508929	ECC-1	luminal epithelium:	n/a	n/a
3	BCLAF1	chr15:75504465-75508533	GM12878	blood:	n/a	chr15:75504683-75504692 chr15:75507383-75507390 chr15:75507561-75507574
4	POLR2A	chr15:75503968-75508962	GM18526	blood:	n/a	n/a
5	POLR2A	chr15:75503585-75508807	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:75506170-75506742	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:75506380-75506890	MCF-7	breast:	n/a	n/a
8	ELF1	chr15:75505530-75509026	GM12878	blood:	n/a	chr15:75505566-75505578
9	POLR2A	chr15:75505475-75509060	U87	brain:	n/a	n/a
10	POLR2A	chr15:75506292-75509098	U87	brain:	n/a	n/a
11	POLR2A	chr15:75504973-75507965	NB4	blood:	n/a	n/a
12	POLR2A	chr15:75503711-75508969	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:75503412-75508310	A549	lung:	n/a	n/a
14	BCL3	chr15:75506576-75508365	GM12878	blood:	n/a	chr15:75507383-75507390 chr15:75507561-75507574
15	POLR2A	chr15:75504559-75509010	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr15:75504349-75506939	K562	blood:	n/a	n/a
17	POLR2A	chr15:75499212-75509025	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:75503799-75508816	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:75501382-75508952	Hela-S3	cervix:	n/a	n/a
20	ATF2	chr15:75505713-75508426	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:75506661-75507265	A549	lung:	n/a	n/a
22	FOSL2	chr15:75504754-75508851	HepG2	liver:	n/a	chr15:75506822-75506831
23	POLR2A	chr15:75499180-75510106	GM12892	blood:	n/a	n/a
24	POLR2A	chr15:75503447-75508620	K562	blood:	n/a	n/a
25	RXRA	chr15:75505014-75507308	GM12878	blood:	n/a	chr15:75506267-75506278 chr15:75506625-75506634
26	POLR2A	chr15:75505335-75508435	HCT-116	colon:	n/a	n/a
27	NFATC1	chr15:75504997-75509017	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:75506533-75506791	U87	brain:	n/a	n/a
29	POLR2A	chr15:75506597-75506685	H1-hESC	embryonic stem cell:	n/a	n/a
30	RUNX3	chr15:75506487-75508451	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:75505533-75507243	PANC-1	pancreas:	n/a	n/a
32	ELF1	chr15:75506144-75507029	A549	lung:	n/a	n/a
33	BCL3	chr15:75505663-75508535	A549	lung:	n/a	chr15:75507383-75507390 chr15:75507561-75507574
34	ELF1	chr15:75506327-75507331	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:75503536-75507041	K562	blood:	n/a	n/a
36	POU2F2	chr15:75504331-75508597	GM12891	blood:	n/a	chr15:75506170-75506182 chr15:75506167-75506179
37	POLR2A	chr15:75503496-75508425	HepG2	liver:	n/a	n/a
38	MYBL2	chr15:75506514-75507433	HepG2	liver:	n/a	n/a
39	POLR2A	chr15:75503181-75509014	GM12892	blood:	n/a	n/a
40	MAZ	chr15:75506571-75506761	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr15:75504935-75508761	PFSK-1	brain:	n/a	n/a
42	FOXM1	chr15:75505379-75507493	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:75504321-75508791	GM12891	blood:	n/a	n/a
44	POLR2A	chr15:75503737-75510069	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:75506169-75507220	GM10847	blood:	n/a	n/a
46	POLR2A	chr15:75504821-75509048	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr15:75505325-75506768	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr15:75503618-75508948	HL-60	blood:	n/a	n/a
49	POLR2A	chr15:75499185-75510301	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:75506062-75506806	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75313377..75315921-chr15:75506187..75507954,2	K562	blood:
2	chr15:75505979..75508081-chr15:75512017..75514345,2	K562	blood:
3	chr15:75506671..75508576-chr15:75520216..75522246,2	K562	blood:
4	chr15:75505897..75507685-chr15:75540087..75541728,2	MCF-7	breast:
5	chr15:75506077..75507609-chr15:75524423..75526889,2	K562	blood:
6	chr15:75493323..75495130-chr15:75505921..75507436,2	MCF-7	breast:
7	chr15:75504624..75507046-chr15:75507156..75508861,2	MCF-7	breast:
8	chr15:75322075..75324448-chr15:75506120..75508117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261779	TF binding region
ENSG00000260660	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12592387	0.91[AMR][1000 genomes]
rs16966780	0.91[AMR][1000 genomes]
rs1873380	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv1053212	chr15:75428467-75534408	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv833056	chr15:75452947-75614590	Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv904384	chr15:75493823-75520378	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv569995	chr15:75493823-75537475	Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv569996	chr15:75493823-75540491	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv904385	chr15:75493823-75546700	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
12	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75496800-75507200	Weak transcription	NH-A	brain
2	chr15:75497600-75507000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:75498000-75507000	Genic enhancers	Spleen	Spleen
4	chr15:75498200-75507000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:75498200-75508000	Strong transcription	Fetal Stomach	stomach
6	chr15:75498400-75507000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:75498400-75507000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:75498400-75507200	Strong transcription	Primary T cells from cord blood	blood
9	chr15:75498400-75507200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:75500000-75507000	Strong transcription	Fetal Intestine Large	intestine
11	chr15:75500000-75510200	Strong transcription	Fetal Intestine Small	intestine
12	chr15:75500800-75507000	Strong transcription	Dnd41	blood
13	chr15:75501000-75506800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:75502000-75507000	Strong transcription	Gastric	stomach
15	chr15:75502200-75507600	Weak transcription	Fetal Heart	heart
16	chr15:75502400-75507000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:75502800-75506800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:75503000-75507800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:75503200-75507400	Strong transcription	Placenta	Placenta
20	chr15:75503400-75506800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr15:75503400-75507200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:75503400-75508800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:75503600-75507400	Strong transcription	Lung	lung
24	chr15:75504200-75507200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:75504200-75507800	Weak transcription	K562	blood
26	chr15:75504200-75511400	Weak transcription	Stomach Mucosa	stomach
27	chr15:75504400-75506800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr15:75504600-75506800	Weak transcription	Small Intestine	intestine
29	chr15:75504600-75507000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:75504600-75507200	Strong transcription	Adipose Nuclei	Adipose
31	chr15:75504600-75507600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:75504600-75507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr15:75504800-75506800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:75504800-75506800	Weak transcription	Fetal Lung	lung
35	chr15:75504800-75506800	Strong transcription	Ovary	ovary
36	chr15:75504800-75506800	Strong transcription	Stomach Smooth Muscle	stomach
37	chr15:75504800-75507600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:75504800-75508200	Weak transcription	HSMM	muscle
39	chr15:75504800-75508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:75504800-75508800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:75504800-75515800	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:75505000-75507000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:75505000-75507400	Weak transcription	Brain Anterior Caudate	brain
44	chr15:75505000-75507400	Strong transcription	Esophagus	oesophagus
45	chr15:75505000-75507800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:75505200-75507000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr15:75505200-75507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:75505200-75507600	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:75505200-75507800	Weak transcription	NHEK	skin
50	chr15:75505200-75508600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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