Variant report

Variant	rs570626856
Chromosome Location	chr19:21512492-21512493
allele	A/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	POLR2A	chr19:21511510-21512583	GM12892	blood:	n/a	n/a
2	YY1	chr19:21511472-21512498	SK-N-SH	brain:	n/a	chr19:21511847-21511869 chr19:21511835-21511849 chr19:21511848-21511856 chr19:21511847-21511857
3	TAF1	chr19:21511953-21512550	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr19:21511469-21512533	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:21511657-21512510	GM19193	blood:	n/a	n/a
6	POLR2A	chr19:21511147-21512532	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr19:21511704-21512510	NB4	blood:	n/a	n/a
8	POLR2A	chr19:21511336-21512501	GM12892	blood:	n/a	n/a
9	REST	chr19:21511697-21512521	H1-neurons	neurons:	n/a	chr19:21511835-21511848
10	POLR2A	chr19:21511562-21512525	H1-neurons	neurons:	n/a	n/a
11	TAF1	chr19:21511607-21512529	H1-neurons	neurons:	n/a	n/a
12	GABPA	chr19:21511903-21512503	HL-60	blood:	n/a	n/a
13	POLR2A	chr19:21511736-21512521	HEK293	kidney:	n/a	n/a
14	KAP1	chr19:21511470-21512496	HEK293	kidney:	n/a	n/a
15	POLR2A	chr19:21511766-21512511	Raji	blood:	n/a	n/a
16	MAZ	chr19:21512025-21512500	HepG2	liver:	n/a	n/a
17	ELF1	chr19:21511675-21512573	HCT-116	colon:	n/a	chr19:21511938-21511950 chr19:21512171-21512182 chr19:21512171-21512182 chr19:21512172-21512181
18	ELF1	chr19:21511636-21512512	MCF-7	breast:	n/a	chr19:21511938-21511950 chr19:21512171-21512182 chr19:21512171-21512182 chr19:21512172-21512181
19	POLR2A	chr19:21511671-21512519	GM15510	blood:	n/a	n/a
20	PBX3	chr19:21512028-21512532	SK-N-SH	brain:	n/a	n/a
21	SRF	chr19:21511864-21512522	MCF-7	breast:	n/a	n/a
22	POLR2A	chr19:21511588-21512527	GM18951	blood:	n/a	n/a
23	POLR2A	chr19:21511318-21512518	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:21511602-21512547	GM12892	blood:	n/a	n/a
25	MXI1	chr19:21511220-21512513	GM12878	blood:	n/a	n/a
26	GABPA	chr19:21511935-21512514	SK-N-SH	brain:	n/a	n/a
27	MXI1	chr19:21510535-21512676	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr19:21511685-21512500	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:21511607-21512508	GM18505	blood:	n/a	n/a
30	POLR2A	chr19:21511096-21512498	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:21511934-21512494	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:21511634-21512525	GM19099	blood:	n/a	n/a
33	POLR2A	chr19:21511720-21512495	K562	blood:	n/a	n/a
34	RELA	chr19:21511589-21512495	GM12891	blood:	n/a	n/a
35	REST	chr19:21511006-21512548	H1-neurons	neurons:	n/a	chr19:21511835-21511848
36	POLR2A	chr19:21511652-21512551	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr19:21511041-21512596	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:21511605-21512512	PFSK-1	brain:	n/a	n/a
39	CREB1	chr19:21511863-21512550	HepG2	liver:	n/a	n/a
40	POLR2A	chr19:21511471-21512551	GM12892	blood:	n/a	n/a
41	ELF1	chr19:21511571-21512560	GM12878	blood:	n/a	chr19:21511938-21511950 chr19:21512171-21512182 chr19:21512171-21512182 chr19:21512172-21512181
42	POLR2A	chr19:21511680-21512527	H1-hESC	embryonic stem cell:	n/a	n/a
43	GATA1	chr19:21511581-21512516	PBDE	blood:	n/a	chr19:21512390-21512401
44	SIN3AK20	chr19:21511695-21512613	MCF-7	breast:	n/a	n/a
45	ELF1	chr19:21511704-21512590	SK-N-SH	brain:	n/a	chr19:21511938-21511950 chr19:21512171-21512182 chr19:21512171-21512182 chr19:21512172-21512181
46	POLR2A	chr19:21511543-21512602	GM12878	blood:	n/a	n/a
47	ELF1	chr19:21511836-21512504	MCF-7	breast:	n/a	chr19:21511938-21511950 chr19:21512171-21512182 chr19:21512171-21512182 chr19:21512172-21512181

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21510924..21513197-chr19:21688433..21691004,2	MCF-7	breast:

Variant related genes	Relation type
ZNF708	TF binding region
ENSG00000197013	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3415719	chr19:21511760-21519079	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21509800-21512600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21510400-21512600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:21510400-21512600	Active TSS	Fetal Brain Female	brain
4	chr19:21510800-21512600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:21510800-21512600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:21510800-21512600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:21510800-21512600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:21510800-21512600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:21510800-21512600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:21510800-21512600	Active TSS	Brain Cingulate Gyrus	brain
11	chr19:21510800-21512600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:21510800-21512600	Active TSS	Fetal Brain Male	brain
13	chr19:21511000-21512600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:21511000-21512600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:21511000-21512600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:21511000-21512600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:21511000-21512600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr19:21511000-21512600	Active TSS	Stomach Smooth Muscle	stomach
19	chr19:21511000-21512600	Active TSS	HSMM	muscle
20	chr19:21511000-21512600	Active TSS	HSMMtube	muscle
21	chr19:21511000-21512600	Active TSS	K562	blood
22	chr19:21511200-21512600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:21511200-21512600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:21511200-21512600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:21511200-21512600	Active TSS	Fetal Lung	lung
26	chr19:21511200-21512600	Active TSS	Thymus	Thymus
27	chr19:21511400-21512600	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr19:21511400-21512600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:21511400-21512600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr19:21511400-21512600	Active TSS	Brain Anterior Caudate	brain
31	chr19:21511400-21512600	Active TSS	Brain Substantia Nigra	brain
32	chr19:21511400-21512600	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr19:21511400-21512600	Active TSS	Fetal Thymus	thymus
34	chr19:21511400-21512600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr19:21511400-21512600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr19:21511400-21512600	Active TSS	Rectal Smooth Muscle	rectum
37	chr19:21511400-21512600	Active TSS	Right Ventricle	heart
38	chr19:21511400-21512600	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr19:21511600-21512600	Active TSS	Primary T cells from cord blood	blood
40	chr19:21511600-21512600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:21511800-21512600	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:21511800-21512600	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr19:21512000-21512600	Active TSS	Brain Germinal Matrix	brain
44	chr19:21512200-21512600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr19:21512200-21512600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr19:21512200-21512600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr19:21512200-21512600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:21512200-21512600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:21512200-21512600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:21512200-21512600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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