Variant report

Variant	rs2650755
Chromosome Location	chr19:21579718-21579719
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	POLR2A	chr19:21579706-21580409	GM12892	blood:	n/a	n/a
2	CBX3	chr19:21579619-21579995	K562	blood:	n/a	n/a
3	IRF1	chr19:21579600-21580088	K562	blood:	n/a	chr19:21579827-21579841
4	GABPA	chr19:21579693-21580077	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:21579629-21580323	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:21579656-21580269	K562	blood:	n/a	n/a
7	POLR2A	chr19:21579552-21580242	PFSK-1	brain:	n/a	n/a
8	NRF1	chr19:21579710-21579968	GM12878	blood:	n/a	n/a
9	GABPA	chr19:21579520-21580279	SK-N-SH	brain:	n/a	n/a
10	ELK1	chr19:21579604-21580080	GM12878	blood:	n/a	n/a
11	FOS	chr19:21579669-21580041	MCF10A-Er-Src	breast:	n/a	chr19:21579850-21579859
12	SP2	chr19:21579670-21579976	K562	blood:	n/a	chr19:21579823-21579838 chr19:21579827-21579836
13	POLR2A	chr19:21579626-21580196	GM19099	blood:	n/a	n/a
14	SRF	chr19:21579584-21580023	ECC-1	luminal epithelium:	n/a	n/a
15	SP1	chr19:21579536-21580144	GM12878	blood:	n/a	chr19:21579827-21579838 chr19:21579827-21579839 chr19:21579827-21579839 chr19:21579829-21579838
16	NFYB	chr19:21579475-21580100	GM12878	blood:	n/a	chr19:21579848-21579858
17	CEBPB	chr19:21579629-21579973	IMR90	lung:	n/a	n/a
18	TAF1	chr19:21579688-21580091	K562	blood:	n/a	n/a
19	ELF1	chr19:21579637-21580240	K562	blood:	n/a	chr19:21579911-21579924 chr19:21579913-21579922 chr19:21579912-21579923 chr19:21580134-21580146
20	JUND	chr19:21579642-21580173	H1-hESC	embryonic stem cell:	n/a	chr19:21579850-21579859 chr19:21580070-21580081
21	POLR2A	chr19:21579650-21580364	GM18951	blood:	n/a	n/a
22	SMC3	chr19:21579684-21580032	HepG2	liver:	n/a	n/a
23	MYC	chr19:21579641-21580218	MCF10A-Er-Src	breast:	n/a	n/a
24	GABPA	chr19:21579515-21580282	MCF-7	breast:	n/a	n/a
25	POU2F2	chr19:21579685-21580236	GM12878	blood:	n/a	n/a
26	ELF1	chr19:21579660-21580439	GM12878	blood:	n/a	chr19:21579911-21579924 chr19:21579913-21579922 chr19:21579912-21579923 chr19:21580134-21580146
27	POLR2A	chr19:21579670-21580292	GM19193	blood:	n/a	n/a
28	POLR2A	chr19:21579687-21580433	MCF-7	breast:	n/a	n/a
29	POLR2A	chr19:21579693-21580309	GM12878	blood:	n/a	n/a
30	RUNX3	chr19:21579655-21580171	GM12878	blood:	n/a	n/a
31	SPI1	chr19:21579637-21579799	K562	blood:	n/a	n/a
32	GABPA	chr19:21579633-21580255	K562	blood:	n/a	n/a
33	TAF1	chr19:21579687-21580177	GM12878	blood:	n/a	n/a
34	POU2F2	chr19:21579641-21580181	GM12891	blood:	n/a	n/a
35	POLR2A	chr19:21579565-21580560	H1-hESC	embryonic stem cell:	n/a	n/a
36	TAF1	chr19:21579709-21580171	ECC-1	luminal epithelium:	n/a	n/a
37	SP1	chr19:21579636-21580108	H1-hESC	embryonic stem cell:	n/a	chr19:21579827-21579838 chr19:21579827-21579839 chr19:21579827-21579839 chr19:21579829-21579838
38	RFX5	chr19:21579229-21580347	SK-N-SH	brain:	n/a	chr19:21580109-21580123 chr19:21579849-21579858
39	GABPA	chr19:21579567-21580229	HL-60	blood:	n/a	n/a
40	CHD2	chr19:21579636-21580139	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr19:21579613-21579962	K562	blood:	n/a	n/a
42	GABPA	chr19:21579683-21580134	GM12878	blood:	n/a	n/a
43	POLR2A	chr19:21579650-21580279	HL-60	blood:	n/a	n/a
44	CEBPB	chr19:21579637-21579958	K562	blood:	n/a	n/a
45	SPI1	chr19:21579620-21579858	GM12878	blood:	n/a	n/a
46	SPI1	chr19:21579640-21579906	GM12891	blood:	n/a	n/a
47	SRF	chr19:21579649-21579840	HepG2	liver:	n/a	n/a
48	PBX3	chr19:21579676-21579911	GM12878	blood:	n/a	chr19:21579797-21579817 chr19:21579810-21579819
49	IRF1	chr19:21579673-21580067	K562	blood:	n/a	chr19:21579827-21579841
50	MAX	chr19:21579648-21580217	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
ZNF493	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10410243	1.00[AFR][1000 genomes]
rs10410762	0.82[YRI][hapmap];1.00[AFR][1000 genomes]
rs10415892	0.86[AFR][1000 genomes]
rs11085448	1.00[AFR][1000 genomes]
rs1566475	1.00[YRI][hapmap]
rs1678825	0.86[AFR][1000 genomes]
rs1781881	0.85[YRI][hapmap]
rs2133818	1.00[AFR][1000 genomes]
rs2359146	1.00[YRI][hapmap]
rs2562406	1.00[AFR][1000 genomes]
rs2562410	1.00[AFR][1000 genomes]
rs2650800	1.00[AFR][1000 genomes]
rs2650846	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2914632	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2928212	0.85[YRI][hapmap]
rs2968027	0.85[YRI][hapmap]
rs4808280	1.00[YRI][hapmap]
rs4809136	0.85[YRI][hapmap]
rs7254098	1.00[YRI][hapmap]
rs939300	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv911421	chr19:21579718-21613397	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21567400-21579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21578800-21581200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:21579000-21579800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:21579000-21581600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:21579200-21579800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:21579200-21579800	Flanking Active TSS	Dnd41	blood
7	chr19:21579200-21580800	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr19:21579200-21580800	Active TSS	Stomach Smooth Muscle	stomach
9	chr19:21579400-21579800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:21579400-21579800	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:21579400-21579800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:21579400-21579800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr19:21579400-21580000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr19:21579400-21580400	Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr19:21579400-21580400	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:21579400-21580600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:21579400-21580600	Active TSS	Duodenum Mucosa	Duodenum
18	chr19:21579400-21580800	Active TSS	Primary T cells from cord blood	blood
19	chr19:21579400-21580800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:21579400-21580800	Active TSS	Fetal Brain Female	brain
21	chr19:21579400-21581200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:21579400-21581400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:21579600-21579800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr19:21579600-21579800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr19:21579600-21579800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr19:21579600-21579800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr19:21579600-21579800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr19:21579600-21579800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:21579600-21579800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:21579600-21579800	Flanking Active TSS	Fetal Thymus	thymus
31	chr19:21579600-21579800	Weak transcription	Right Atrium	heart
32	chr19:21579600-21580000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:21579600-21580000	Active TSS	Brain Germinal Matrix	brain
34	chr19:21579600-21580000	Active TSS	HepG2	liver
35	chr19:21579600-21580200	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:21579600-21580400	Active TSS	Primary hematopoietic stem cells	blood
37	chr19:21579600-21580400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:21579600-21580600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:21579600-21580600	Active TSS	HUVEC	blood vessel
40	chr19:21579600-21580800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:21579600-21580800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:21579600-21580800	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr19:21579600-21580800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr19:21579600-21580800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:21579600-21580800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr19:21579600-21580800	Active TSS	Brain Anterior Caudate	brain
47	chr19:21579600-21580800	Active TSS	Fetal Brain Male	brain
48	chr19:21579600-21580800	Active TSS	Fetal Lung	lung
49	chr19:21579600-21580800	Active TSS	Fetal Muscle Leg	muscle
50	chr19:21579600-21580800	Active TSS	Rectal Mucosa Donor 31	rectum

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