Variant report

Variant	rs1484213
Chromosome Location	chr15:74583403-74583404
allele	A/G
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	GATA1	chr15:74583384-74583964	PBDE	blood:	n/a	chr15:74583604-74583614 chr15:74583597-74583618 chr15:74583628-74583638 chr15:74583599-74583615 chr15:74583604-74583611 chr15:74583604-74583611 chr15:74583602-74583612 chr15:74583604-74583611
2	GATA2	chr15:74583225-74584103	HUVEC	blood vessel:	n/a	chr15:74583604-74583614 chr15:74583344-74583354 chr15:74583597-74583618 chr15:74583628-74583638 chr15:74583341-74583357 chr15:74583599-74583615 chr15:74583604-74583611 chr15:74583601-74583615 chr15:74583604-74583611 chr15:74583602-74583612 chr15:74583604-74583611
3	REST	chr15:74583286-74585011	U87	brain:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
4	REST	chr15:74583187-74584905	PANC-1	pancreas:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
5	REST	chr15:74583294-74584480	HL-60	blood:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
6	NFIC	chr15:74583106-74583443	GM12878	blood:	n/a	n/a
7	EP300	chr15:74583271-74584200	SK-N-SH_RA	brain:	n/a	n/a
8	YY1	chr15:74583391-74583737	GM12892	blood:	n/a	n/a
9	RAD21	chr15:74583365-74584131	SK-N-SH_RA	brain:	n/a	n/a
10	REST	chr15:74583231-74585129	PFSK-1	brain:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74585072-74585085 chr15:74584002-74584011 chr15:74583991-74584011
11	REST	chr15:74583258-74584680	A549	lung:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
12	REST	chr15:74583385-74584666	ECC-1	luminal epithelium:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
13	REST	chr15:74583230-74584474	SK-N-SH	brain:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
14	POLR2A	chr15:74583256-74583993	GM12892	blood:	n/a	n/a
15	YY1	chr15:74583366-74584120	SK-N-SH_RA	brain:	n/a	n/a
16	CEBPD	chr15:74583386-74583910	K562	blood:	n/a	n/a
17	EP300	chr15:74583394-74584160	K562	blood:	n/a	n/a
18	MAX	chr15:74583390-74584115	K562	blood:	n/a	chr15:74583724-74583733
19	RELA	chr15:74582973-74583922	GM12878	blood:	n/a	n/a
20	YY1	chr15:74583323-74584157	SK-N-SH_RA	brain:	n/a	n/a
21	REST	chr15:74583198-74585190	HL-60	blood:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74585072-74585085 chr15:74584002-74584011 chr15:74583991-74584011
22	REST	chr15:74583246-74584725	PANC-1	pancreas:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
23	MAX	chr15:74583366-74584299	NB4	blood:	n/a	chr15:74584260-74584271 chr15:74583724-74583733
24	EP300	chr15:74583396-74584251	SK-N-SH	brain:	n/a	n/a
25	REST	chr15:74583386-74584407	Hela-S3	cervix:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
26	REST	chr15:74583168-74584601	ECC-1	luminal epithelium:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
27	GATA3	chr15:74583318-74584005	SH-SY5Y	brain:	n/a	chr15:74583604-74583614 chr15:74583344-74583354 chr15:74583597-74583618 chr15:74583628-74583638 chr15:74583341-74583357 chr15:74583599-74583615 chr15:74583604-74583611 chr15:74583604-74583611 chr15:74583602-74583612 chr15:74583604-74583611
28	REST	chr15:74583225-74584553	K562	blood:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
29	REST	chr15:74583377-74584737	MCF-7	breast:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
30	REST	chr15:74583315-74585231	PFSK-1	brain:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74585072-74585085 chr15:74584002-74584011 chr15:74583991-74584011
31	REST	chr15:74583273-74585042	U87	brain:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
32	TEAD4	chr15:74583387-74584114	SK-N-SH	brain:	n/a	n/a
33	REST	chr15:74583381-74584751	PANC-1	pancreas:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
34	MAX	chr15:74583377-74584164	K562	blood:	n/a	chr15:74583724-74583733
35	RELA	chr15:74583026-74584114	GM12891	blood:	n/a	n/a
36	REST	chr15:74583373-74584730	MCF-7	breast:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
37	RAD21	chr15:74583358-74584218	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr15:74581942-74586920	SK-N-SH	brain:	n/a	n/a
39	TCF12	chr15:74583245-74584356	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr15:74583306-74584435	H1-neurons	neurons:	n/a	n/a
41	REST	chr15:74583274-74584546	GM12878	blood:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
42	GATA3	chr15:74583382-74584157	SK-N-SH	brain:	n/a	chr15:74583604-74583614 chr15:74583597-74583618 chr15:74583628-74583638 chr15:74583599-74583615 chr15:74583604-74583611 chr15:74583604-74583611 chr15:74583602-74583612 chr15:74583604-74583611
43	GABPA	chr15:74583400-74584161	K562	blood:	n/a	chr15:74583873-74583880
44	GATA3	chr15:74583274-74584178	SK-N-SH	brain:	n/a	chr15:74583604-74583614 chr15:74583344-74583354 chr15:74583597-74583618 chr15:74583628-74583638 chr15:74583341-74583357 chr15:74583599-74583615 chr15:74583604-74583611 chr15:74583604-74583611 chr15:74583602-74583612 chr15:74583604-74583611
45	REST	chr15:74583382-74584913	HCT-116	colon:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011
46	RELA	chr15:74583055-74583612	GM19099	blood:	n/a	n/a
47	MYC	chr15:74583346-74584207	NB4	blood:	n/a	chr15:74583724-74583733
48	POLR2A	chr15:74583349-74584410	H1-neurons	neurons:	n/a	n/a
49	EP300	chr15:74583310-74584178	SK-N-SH_RA	brain:	n/a	n/a
50	REST	chr15:74583293-74584495	Hela-S3	cervix:	n/a	chr15:74583947-74583960 chr15:74583991-74584011 chr15:74583992-74584010 chr15:74583991-74584011 chr15:74583997-74584006 chr15:74583991-74584005 chr15:74583995-74584008 chr15:74584002-74584011 chr15:74583991-74584011

No.	Distal block	Cell Line	Cell type
1	chr15:74583306..74585518-chr15:74588891..74592358,3	MCF-7	breast:
2	chr15:74572285..74574506-chr15:74581544..74583553,2	K562	blood:
3	chr15:74583146..74585264-chr15:74587760..74589552,2	K562	blood:
4	chr15:74516266..74518836-chr15:74583231..74585495,2	MCF-7	breast:
5	chr15:74570759..74572430-chr15:74582400..74584892,2	MCF-7	breast:
6	chr15:74560856..74563474-chr15:74582428..74584503,2	K562	blood:

Variant related genes	Relation type
CCDC33	TF binding region
ENSG00000140481	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16967313	0.80[EUR][1000 genomes]
rs173272	0.82[TSI][hapmap]
rs189499	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs191589	0.80[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2930296	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930297	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2930848	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2930849	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959013	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959014	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959015	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2959016	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351199	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs351201	0.81[CEU][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs351204	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs351207	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351209	0.81[CEU][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs351210	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351211	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351214	0.93[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs351215	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4887125	0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs57622624	0.80[EUR][1000 genomes]
rs7163055	0.80[EUR][1000 genomes]
rs73434405	0.80[EUR][1000 genomes]
rs901133	0.88[TSI][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1035367	chr15:74554972-74586538	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74568000-74583800	Weak transcription	Right Atrium	heart
2	chr15:74579200-74583600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr15:74582000-74584600	Enhancers	GM12878-XiMat	blood
4	chr15:74582800-74583600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr15:74582800-74583600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr15:74582800-74583600	Enhancers	NH-A	brain
7	chr15:74582800-74584400	Enhancers	Spleen	Spleen
8	chr15:74582800-74584800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:74582800-74585000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr15:74582800-74585200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:74582800-74585200	Enhancers	Fetal Brain Male	brain
12	chr15:74583000-74583600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr15:74583000-74583600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
14	chr15:74583000-74583600	Enhancers	K562	blood
15	chr15:74583000-74584600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:74583200-74583600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
17	chr15:74583200-74584000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr15:74583200-74584000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:74583200-74584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:74583200-74584800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:74583400-74583600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:74583400-74583600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:74583400-74583800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr15:74583400-74583800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
25	chr15:74583400-74584000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:74583400-74584000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr15:74583400-74584000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr15:74583400-74584000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:74583400-74584000	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr15:74583400-74584200	Enhancers	Hela-S3	cervix
31	chr15:74583400-74584400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:74583400-74584400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr15:74583400-74584400	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr15:74583400-74584400	Bivalent Enhancer	Placenta	Placenta
35	chr15:74583400-74584600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr15:74583400-74584600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr15:74583400-74584600	Enhancers	HUVEC	blood vessel
38	chr15:74583400-74585200	Enhancers	Fetal Brain Female	brain

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