Variant report

Variant	rs58599469
Chromosome Location	chr15:45571625-45571626
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr15:45571176-45571797	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:45571164-45571862	HEK293	kidney:	n/a	n/a
3	MBD4	chr15:45571099-45571897	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:45571193-45571849	H1-hESC	embryonic stem cell:	n/a	n/a
5	MYC	chr15:45571343-45571701	MCF-7	breast:	n/a	n/a
6	FOXA1	chr15:45571153-45571891	T-47D	breast:	n/a	n/a
7	STAT1	chr15:45571201-45571738	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:45570952-45571748	PFSK-1	brain:	n/a	n/a
9	SP1	chr15:45571145-45571809	HepG2	liver:	n/a	chr15:45571557-45571567 chr15:45571545-45571554 chr15:45571546-45571555 chr15:45571544-45571555 chr15:45571541-45571555 chr15:45571557-45571567
10	POLR2A	chr15:45571124-45571978	HUVEC	blood vessel:	n/a	n/a
11	TCF12	chr15:45571076-45571780	A549	lung:	n/a	n/a
12	SIN3AK20	chr15:45571019-45571912	HCT-116	colon:	n/a	n/a
13	RCOR1	chr15:45571209-45571750	K562	blood:	n/a	n/a
14	IRF1	chr15:45571189-45571853	K562	blood:	n/a	chr15:45571575-45571589
15	POLR2A	chr15:45571144-45571919	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr15:45571141-45571811	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr15:45571194-45571876	HepG2	liver:	n/a	n/a
18	NFYB	chr15:45571258-45571781	GM12878	blood:	n/a	n/a
19	SP4	chr15:45571216-45571778	H1-hESC	embryonic stem cell:	n/a	chr15:45571544-45571555 chr15:45571554-45571570
20	SP1	chr15:45571237-45571795	H1-hESC	embryonic stem cell:	n/a	chr15:45571557-45571567 chr15:45571545-45571554 chr15:45571546-45571555 chr15:45571544-45571555 chr15:45571541-45571555 chr15:45571557-45571567
21	MYC	chr15:45571355-45571653	GM12878	blood:	n/a	n/a
22	GATA3	chr15:45571223-45571659	MCF-7	breast:	n/a	n/a
23	HEY1	chr15:45571085-45571908	HepG2	liver:	n/a	n/a
24	EGR1	chr15:45571377-45571704	K562	blood:	n/a	chr15:45571591-45571600 chr15:45571577-45571584 chr15:45571441-45571450
25	POLR2A	chr15:45571067-45571975	GM12892	blood:	n/a	n/a
26	ELF1	chr15:45571150-45571839	MCF-7	breast:	n/a	chr15:45571371-45571382 chr15:45571437-45571450
27	MYC	chr15:45571342-45571660	MCF-7	breast:	n/a	n/a
28	POLR2A	chr15:45571188-45572048	MCF-7	breast:	n/a	n/a
29	POLR2A	chr15:45571171-45571851	K562	blood:	n/a	n/a
30	POLR2A	chr15:45571043-45572028	U87	brain:	n/a	n/a
31	POLR2A	chr15:45571229-45571730	HUVEC	blood vessel:	n/a	n/a
32	ELF1	chr15:45571273-45571736	A549	lung:	n/a	chr15:45571371-45571382 chr15:45571437-45571450
33	HA-E2F1	chr15:45571173-45571821	MCF-7	breast:	n/a	chr15:45571702-45571709 chr15:45571545-45571557 chr15:45571545-45571554 chr15:45571591-45571600
34	PML	chr15:45571124-45571896	K562	blood:	n/a	n/a
35	HEY1	chr15:45571195-45571809	HepG2	liver:	n/a	n/a
36	PML	chr15:45570987-45571963	GM12878	blood:	n/a	n/a
37	SPI1	chr15:45571163-45571641	GM12878	blood:	n/a	chr15:45571379-45571392 chr15:45571382-45571391
38	ZNF384	chr15:45571318-45571743	GM12878	blood:	n/a	n/a
39	POU2F2	chr15:45571198-45571741	GM12891	blood:	n/a	n/a
40	PML	chr15:45571169-45571897	GM12878	blood:	n/a	n/a
41	TAF1	chr15:45571222-45571816	HepG2	liver:	n/a	n/a
42	HEY1	chr15:45571229-45571831	K562	blood:	n/a	n/a
43	CBX3	chr15:45571105-45571748	K562	blood:	n/a	n/a
44	MYC	chr15:45571211-45571816	K562	blood:	n/a	chr15:45571212-45571222
45	HEY1	chr15:45571158-45571773	K562	blood:	n/a	n/a
46	BHLHE40	chr15:45571213-45571810	GM12878	blood:	n/a	n/a
47	TEAD4	chr15:45571209-45571793	K562	blood:	n/a	n/a
48	POLR2A	chr15:45571095-45571946	HL-60	blood:	n/a	n/a
49	POLR2A	chr15:45571508-45571750	A549	lung:	n/a	n/a
50	SRF	chr15:45571262-45571697	ECC-1	luminal epithelium:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45571596-45571646	K562	blood:	n/a
2	chr15:45571596-45571646	AG09319	gingival:	n/a
3	chr15:45571596-45571646	Jurkat	blood:	n/a
4	chr15:45571596-45571646	ProgFib	skin:	n/a
5	chr15:45571596-45571646	HL-60	blood:	n/a
6	chr15:45571596-45571646	A549	lung:	n/a
7	chr15:45571596-45571646	CMK	blood:	n/a
8	chr15:45571596-45571646	H1-hESC	embryonic stem cell:	embryo
9	chr15:45571596-45571646	T-47D	breast:	n/a
10	chr15:45571596-45571646	MCF-7	breast:	n/a
11	chr15:45571596-45571646	GM12892	blood:	n/a
12	chr15:45571596-45571646	HCF	heart:	n/a
13	chr15:45571596-45571646	SK-N-SH	brain:	n/a
14	chr15:45571596-45571646	HAEpiC	amniotic membrane:	n/a
15	chr15:45571596-45571646	AoSMC	blood vessel:	n/a
16	chr15:45571596-45571646	Hepatocyte	liver:	n/a
17	chr15:45571596-45571646	SAEC	small airway:	n/a
18	chr15:45571596-45571646	HRCEpiC	kidney:	n/a
19	chr15:45571596-45571646	PANC-1	pancreas:	n/a
20	chr15:45571596-45571646	AG09309	skin:	n/a
21	chr15:45571596-45571646	HEEpiC	esophagus:	n/a
22	chr15:45571596-45571646	BE2_C	brain:	n/a
23	chr15:45571596-45571646	MCF10A-Er-Src	breast:	n/a
24	chr15:45571596-45571646	HCPEpiC	choroid plexus:	n/a
25	chr15:45571596-45571646	GM06990	blood:	n/a
26	chr15:45571596-45571646	ECC-1	luminal epithelium:	n/a
27	chr15:45571596-45571646	HRPEpiC	eye:	n/a
28	chr15:45571596-45571646	Caco-2	colon:	n/a
29	chr15:45571596-45571646	NT2-D1	testis:	n/a
30	chr15:45571596-45571646	U87	brain:	n/a
31	chr15:45571596-45571646	HepG2	liver:	n/a
32	chr15:45571596-45571646	HRE	kidney:	n/a
33	chr15:45571596-45571646	HMEC	breast:	n/a
34	chr15:45571596-45571646	SKMC	muscle:	n/a
35	chr15:45571596-45571646	PFSK-1	brain:	n/a
36	chr15:45571596-45571646	LNCaP	prostate:	n/a
37	chr15:45571596-45571646	GM19239	blood:	n/a
38	chr15:45571596-45571646	PrEC	prostate:	n/a
39	chr15:45571596-45571646	AG04449	skin:	fetal
40	chr15:45571596-45571646	BJ	skin:	n/a
41	chr15:45571596-45571646	GM12878	blood:	n/a
42	chr15:45571596-45571646	Hela-S3	cervix:	n/a
43	chr15:45571596-45571646	AG04450	lung:	fetal
44	chr15:45571596-45571646	SK-N-SH_RA	brain:	n/a
45	chr15:45571596-45571646	HUVEC	blood vessel:	n/a
46	chr15:45571596-45571646	RPTEC	kidney:	n/a
47	chr15:45571596-45571646	SK-N-MC	brain:	n/a
48	chr15:45571596-45571646	NB4	blood:	n/a
49	chr15:45571596-45571646	ovcar-3	ovarian:	n/a
50	chr15:45571596-45571646	HEK293	kidney:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45570698..45571654-chr20:30134901..30135595,2	NB4	blood:
2	chr15:45547330..45549104-chr15:45570394..45573078,2	MCF-7	breast:
3	chr15:45570708..45573284-chr15:45693152..45695793,2	MCF-7	breast:
4	chr15:45491756..45494677-chr15:45570318..45572091,2	MCF-7	breast:
5	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:
6	chr15:45464381..45467214-chr15:45569783..45571800,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259520	TF binding region
ENSG00000259520	CpG island
ENSG00000101294	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000101898	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000171763	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57753607	1.00[AMR][1000 genomes]
rs58845756	1.00[AMR][1000 genomes]
rs59653817	1.00[AMR][1000 genomes]
rs60484916	1.00[AMR][1000 genomes]
rs7166428	1.00[AMR][1000 genomes]
rs73406368	1.00[AMR][1000 genomes]
rs73406377	1.00[AMR][1000 genomes]
rs74009611	1.00[AMR][1000 genomes]
rs74009618	1.00[AMR][1000 genomes]
rs74009621	1.00[AMR][1000 genomes]
rs74009628	1.00[AMR][1000 genomes]
rs8031001	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 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	chr15:45570200-45572000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:45570400-45572200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:45570400-45572200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:45570400-45572200	Active TSS	Psoas Muscle	Psoas
5	chr15:45570400-45572200	Active TSS	K562	blood
6	chr15:45570400-45572400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:45570400-45572400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr15:45570400-45572400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:45570400-45572400	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr15:45570400-45572400	Active TSS	HSMM	muscle
11	chr15:45570400-45572400	Active TSS	NHDF-Ad	bronchial
12	chr15:45570600-45571800	Active TSS	Fetal Muscle Trunk	muscle
13	chr15:45570600-45572000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr15:45570600-45572000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:45570600-45572000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:45570600-45572000	Active TSS	Esophagus	oesophagus
17	chr15:45570600-45572000	Active TSS	Left Ventricle	heart
18	chr15:45570600-45572000	Active TSS	Rectal Smooth Muscle	rectum
19	chr15:45570600-45572200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:45570600-45572200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:45570600-45572200	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr15:45570600-45572200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:45570600-45572200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:45570600-45572200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr15:45570600-45572200	Active TSS	Right Atrium	heart
26	chr15:45570600-45572200	Active TSS	Right Ventricle	heart
27	chr15:45570600-45572400	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr15:45570600-45572400	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr15:45570600-45572400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr15:45570600-45572400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:45570600-45572400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:45570600-45572400	Active TSS	HSMMtube	muscle
33	chr15:45570800-45571800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:45570800-45571800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr15:45570800-45571800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:45570800-45571800	Active TSS	Fetal Kidney	kidney
37	chr15:45570800-45572000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:45570800-45572000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:45570800-45572000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:45570800-45572000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45570800-45572000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:45570800-45572000	Active TSS	Aorta	Aorta
43	chr15:45570800-45572000	Active TSS	Colon Smooth Muscle	Colon
44	chr15:45570800-45572000	Active TSS	Pancreas	Pancrea
45	chr15:45570800-45572000	Active TSS	NHLF	lung
46	chr15:45570800-45572200	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr15:45570800-45572200	Active TSS	A549	lung
48	chr15:45570800-45572800	Enhancers	Spleen	Spleen
49	chr15:45571000-45571800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:45571000-45571800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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