Variant report

Variant	rs72737046
Chromosome Location	chr15:50475727-50475728
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	MAX	chr15:50473527-50475924	MCF-7	breast:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
2	SMARCC1	chr15:50473774-50476040	Hela-S3	cervix:	n/a	n/a
3	ZNF143	chr15:50475549-50476138	K562	blood:	n/a	n/a
4	EP300	chr15:50475492-50475918	K562	blood:	n/a	n/a
5	SMC3	chr15:50474095-50476014	Hela-S3	cervix:	n/a	chr15:50474366-50474380
6	MAX	chr15:50474087-50475975	Hela-S3	cervix:	n/a	chr15:50474123-50474132 chr15:50474330-50474337 chr15:50474511-50474520
7	MYC	chr15:50474126-50475994	NB4	blood:	n/a	chr15:50474330-50474337 chr15:50474511-50474520
8	MAX	chr15:50474133-50475981	NB4	blood:	n/a	chr15:50474330-50474337 chr15:50474511-50474520
9	MAZ	chr15:50475478-50476051	K562	blood:	n/a	n/a
10	USF2	chr15:50475561-50476039	Hela-S3	cervix:	n/a	n/a
11	CUX1	chr15:50475419-50475977	K562	blood:	n/a	chr15:50475447-50475456
12	EBF1	chr15:50475537-50475885	GM12878	blood:	n/a	chr15:50475690-50475699 chr15:50475688-50475699 chr15:50475690-50475699
13	HA-E2F1	chr15:50473931-50475953	MCF-7	breast:	n/a	chr15:50474373-50474382
14	RCOR1	chr15:50474129-50476016	Hela-S3	cervix:	n/a	n/a
15	RFX5	chr15:50474218-50475961	Hela-S3	cervix:	n/a	chr15:50474408-50474417
16	GTF2F1	chr15:50474908-50475987	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr15:50475619-50476027	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:50473723-50475990	Hela-S3	cervix:	n/a	n/a
19	WRNIP1	chr15:50475699-50475877	GM12878	blood:	n/a	n/a
20	RUNX3	chr15:50475578-50475989	GM12878	blood:	n/a	n/a
21	ELF1	chr15:50475607-50475976	K562	blood:	n/a	n/a
22	ELF1	chr15:50473606-50476198	MCF-7	breast:	n/a	chr15:50474375-50474387 chr15:50474439-50474451
23	IKZF1	chr15:50475671-50475830	GM12878	blood:	n/a	n/a
24	JUND	chr15:50475580-50476032	K562	blood:	n/a	n/a
25	RCOR1	chr15:50475473-50476043	K562	blood:	n/a	n/a
26	RCOR1	chr15:50475407-50476181	K562	blood:	n/a	n/a
27	MAFK	chr15:50475680-50476018	K562	blood:	n/a	n/a
28	MYC	chr15:50475648-50475848	K562	blood:	n/a	n/a
29	ZNF384	chr15:50475671-50476310	K562	blood:	n/a	n/a
30	ATF1	chr15:50475697-50476012	K562	blood:	n/a	n/a
31	POLR2A	chr15:50474139-50476125	Hela-S3	cervix:	n/a	n/a
32	HDAC2	chr15:50473644-50476019	MCF-7	breast:	n/a	n/a
33	RUNX3	chr15:50475562-50475911	GM12878	blood:	n/a	n/a
34	TEAD4	chr15:50475574-50476022	K562	blood:	n/a	n/a
35	MXI1	chr15:50474135-50475997	Hela-S3	cervix:	n/a	n/a
36	RAD21	chr15:50474226-50475997	Hela-S3	cervix:	n/a	chr15:50474366-50474380 chr15:50474365-50474384

No.	Distal block	Cell Line	Cell type
1	chr15:50475267..50477449-chr15:50487507..50490048,2	K562	blood:
2	chr15:50475076..50477234-chr15:50491575..50493600,2	MCF-7	breast:
3	chr15:50471286..50473926-chr15:50475708..50479311,4	K562	blood:
4	chr15:50473948..50476834-chr15:50511893..50514231,2	MCF-7	breast:
5	chr15:50471646..50476620-chr15:50646050..50650091,9	MCF-7	breast:
6	chr15:50473235..50476211-chr15:50645559..50648841,7	MCF-7	breast:
7	chr15:50471854..50475641-chr15:50475703..50478122,4	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000104064	Chromatin interaction
ENSG00000104043	Chromatin interaction
ENSG00000200605	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000140284	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11070756	0.85[ASN][1000 genomes]
rs11070757	0.85[ASN][1000 genomes]
rs11854761	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11854881	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11858160	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12440837	0.81[ASN][1000 genomes]
rs12906623	0.81[ASN][1000 genomes]
rs12912519	0.81[ASN][1000 genomes]
rs16963441	0.80[AMR][1000 genomes]
rs17415862	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17499726	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2414037	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34490804	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803371	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740521	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55852503	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55853214	0.89[ASN][1000 genomes]
rs55970302	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56083537	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56306192	0.80[AMR][1000 genomes]
rs57335604	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58277329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59690694	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60383354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60387657	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66472276	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7182866	0.80[AMR][1000 genomes]
rs72737014	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737020	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737025	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737026	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737028	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737030	0.85[ASN][1000 genomes]
rs72737033	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737034	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737035	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72737040	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72737047	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737057	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72737059	0.83[AMR][1000 genomes]
rs73395114	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8033014	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036098	0.81[ASN][1000 genomes]
rs9672196	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv904209	chr15:50444824-50482133	Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50473800-50475800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr15:50474000-50475800	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr15:50474000-50476000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
5	chr15:50474000-50476000	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr15:50474000-50476000	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr15:50474000-50476200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50474200-50477400	Active TSS	Liver	Liver
9	chr15:50474600-50475800	Flanking Active TSS	Pancreas	Pancrea
10	chr15:50474800-50475800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr15:50474800-50476000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:50475000-50475800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
13	chr15:50475000-50475800	Bivalent Enhancer	Fetal Heart	heart
14	chr15:50475000-50475800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
15	chr15:50475000-50476000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:50475000-50476000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:50475000-50476000	Flanking Active TSS	K562	blood
18	chr15:50475200-50475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:50475200-50475800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr15:50475200-50475800	Enhancers	Gastric	stomach
21	chr15:50475200-50475800	Bivalent Enhancer	Stomach Mucosa	stomach
22	chr15:50475200-50476000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:50475200-50476000	Active TSS	Colonic Mucosa	Colon
24	chr15:50475200-50476000	Flanking Active TSS	A549	lung
25	chr15:50475200-50476000	Flanking Active TSS	HepG2	liver
26	chr15:50475200-50476200	Active TSS	Placenta	Placenta
27	chr15:50475400-50475800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr15:50475400-50475800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:50475400-50475800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr15:50475400-50475800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr15:50475400-50475800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr15:50475400-50475800	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr15:50475400-50475800	Enhancers	Brain Angular Gyrus	brain
34	chr15:50475400-50475800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
35	chr15:50475400-50475800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
36	chr15:50475400-50475800	Bivalent Enhancer	NH-A	brain
37	chr15:50475400-50476000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:50475400-50476000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:50475400-50476000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr15:50475400-50476200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr15:50475400-50476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:50475400-50476200	Flanking Active TSS	Hela-S3	cervix
43	chr15:50475600-50475800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
44	chr15:50475600-50475800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr15:50475600-50475800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
46	chr15:50475600-50475800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr15:50475600-50475800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr15:50475600-50475800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr15:50475600-50475800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:50475600-50476000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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